The proteins produced from both genes are thought to act as tumor suppressors, which normally keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in either of these genes may help cells grow and divide without control or order to form a tumor.
Some of this lymph fluid is then taken up by lymphatic vessels and passed back to the heart, where it is again mixed with the blood. On its way, the fluid passes through the lymph nodes , small nodular organs located throughout the body but concentrated in certain areas such as the armpits or groin .
This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Generalized lymphadenopathy" – news · newspapers · books · scholar · JSTOR ( March 2007 ) ( Learn how and when to remove this template message ) Generalized lymphadenopathy Lymphadenopathy due to systemic lupus erythematosus with characteristic necrosis and haematoxylin bodies. H&E stain . Specialty Infectious disease Generalized lymphadenopathy is swollen lymph glands in many areas of the body. [1] Usually this is in response to a body-wide infectious disease such as influenza and will go away once the person has recovered, but sometimes it can persist long-term, even when there is no obvious cause of disease. This is then called persistent generalized lymphadenopathy (PGL). Causes of generalized lymphadenopathy [ edit ] Infection : Viral : Infectious mononucleosis , Infective hepatitis , AIDS Bacterial : Tuberculosis , Brucellosis , secondary syphilis , Tularemia Protozoal : Toxoplasmosis Fungal : Histoplasmosis Malignant : Leukaemia Metastatic carcinoma Immunological : Systemic lupus erythematosus Felty's syndrome Still's disease Drug hypersensitivity as Hydantoin , Hydralazine , Allopurinol Misc. : Sarcoidosis Amyloidosis Lipid storage disease Hyperthyroidism References [ edit ] ^ http://www.aafp.org/afp/20021201/2103.html External links [ edit ] Classification D ICD - 10 : R59.1 v t e Symptoms and signs that are general or constitutional Temperature heat Fever of unknown origin drug-induced postoperative Hyperthermia Hyperhidrosis Night sweats cold Chills Hypothermia Aches and pains Headache Chronic pain Cancer pain Myalgia Tenderness Malaise and fatigue Lassitude Lethargy Atrophy of muscle Debility (or asthenia ) Miscellaneous Cachexia Anorexia Polyphagia and polydipsia Flu-like symptoms v t e Lymphatic disease : organ and vessel diseases Thymus Abscess Hyperplasia Hypoplasia DiGeorge syndrome Ectopic thymus Thymoma Thymic carcinoma Spleen Asplenia Asplenia with cardiovascular anomalies Accessory spleen Polysplenia Wandering spleen Splenomegaly Banti's syndrome Splenic infarction Splenic tumor Lymph node Lymphadenopathy Generalized lymphadenopathy Castleman's disease Intranodal palisaded myofibroblastoma Kikuchi disease Tonsils see Template:Respiratory pathology Lymphatic vessels Lymphangitis Lymphangiectasia Lymphedema Primary lymphedema Congenital lymphedema Lymphedema praecox Lymphedema tarda Lymphedema–distichiasis syndrome Milroy's disease Secondary lymphedema Bullous lymphedema Factitial lymphedema Postinflammatory lymphedema Postmastectomy lymphangiosarcoma Waldmann disease
Additionally, irrigating the bladder with distilled water three times daily with 3 way Foley's catheter and urinary antiseptics like pyridium may be used to help relieve urinary symptoms.
Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body. Epidemiology Prevalence is unknown but more than 700 cases have been described in the literature. Clinical description Malakoplakia can occur in all ages, with a mean age at diagnosis of 50 years old and a female predominance. Pediatric cases are rare. It is most common in immunodeficient patients with a history of diabetes, transplantation, lymphoma, steroid therapy or alcoholism. In the majority of cases (60-80%), malakoplakia affects the urinary tract (bladder, kidney, and ureters) and cases of locoregional extension have been reported (retroperitoneal region and lymph nodes).
Malakoplakia is a rare chronic inflammatory disease. It most commonly involves the urogenital system (reproductive organs and urinary system), but may also be found in other regions of the body, including the pelvis, bones, lungs, thyroid gland , gastrointestinal (digestive) tract, skin, and kidneys. Symptoms of malakoplakia differ depending on the involved area. For example, when the skin is affected the malakoplakia may appear rash-like with small areas of itchy, reddened skin that may be painful and/or fluid filled. The cause of malakoplakia is not well understood. It is thought to be related to an issue with the function of one's macrophages, which are one type of cell within the immune system that respond to foreign invaders (bacteria). E.coli is the most common type of bacteria that leads to malakoplakia. Individuals with a compromised immune system have an elevated risk to develop malakoplakia.
Contents 1 Treatment 2 See also 3 References 4 External links Treatment [ edit ] Cognitive behavioural therapy , individual therapy, and group therapy are often beneficial in helping people keep track of their eating habits and changing the way they cope with difficult situations.
Primary factors for diagnosing urinothorax include low protein and high LDH content. [5] Low glucose levels and acidity are also described, but not reliable ways to diagnose or rule out urinothorax. [2] The most important chemical diagnostic factor of the fluid is that the ratio of creatinine to serum is more than 1 and usually more than 10. [5] Treatment [ edit ] Treatment mainly consists of relieving urinary obstruction if it is present.
Pregnancy Management See Hereditary Hemorrhagic Telangiectasia, Pregnancy Management Therapies Under Investigation Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.
10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.
Juvenile polyposis syndrome (JPS) is a disorder characterized by having a susceptibility to developing hamartomatous polyps in the gastrointestinal (GI) tract . A hamartomatous polyp is a benign (noncancerous) tumor-like malformation made up of an abnormal mixture of cells and tissues. In JPS, these polyps can occur in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp and not the age at which the polyps develop. Most people with JPS have some polyps by the age of age 20. The number of polyps in affected people vary.
A rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract. Epidemiology Annual incidence is estimated at between 1/100,000 and 1/15,000. Clinical description Polyps may develop at any age from infancy through to adulthood, with most affected individuals presenting polyps by adolescence/early adulthood. A diagnosis of JIP is made on the basis of one or several of the following findings: the presence of more than five juvenile polyps in the colon and/or rectum; the presence of juvenile polyposis throughout the digestive tract, including the stomach; the presence of any number of juvenile polyps in association with a family history of JIP. Several types of JIP have been described, including three forms that differ on the basis of the location of the polyps (generalized juvenile polyposis of the upper and lower GI tract, juvenile polyposis coli and juvenile polyposis of the stomach) and a more severe infantile form, juvenile polyposis of infancy (see this term).
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome (chr10: 81.6-88.9 Mb, NCBI36). Description The 10q22.3-q23.2 region is characterized by a complex set of low-copy repeats (LCRs), which can give rise to various genomic changes mediated by nonallelic homologous recombination (NAHR). Recurrent deletions of chromosome 10q22.3-q23.2, including the BMPR1A gene (601299) have been associated with dysmorphic facies, developmental delay, and multiple congenital anomalies. Some patients with deletions that extend distally to include the PTEN gene (601728) have a more severe phenotype with infantile/juvenile polyposis, macrocephaly, dysmorphic facial features, and developmental delay (summary by van Bon et al., 2011). Clinical Features Alliman et al. (2010) reported 4 unrelated patients with a recurrent interstitial deletion of chromosome 10q22.3-q23.2, including the BMPR1A gene but not the PTEN gene.
A number sign (#) is used with this entry because juvenile polyposis syndrome (JPS) is caused by heterozygous mutation in the SMAD4 gene (600993) on chromosome 18q21 or in the gene encoding bone morphogenetic protein receptor-1A (BMPR1A; 601299) on chromosome 10q21. Description Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005). It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (601728), the same gene that is mutant in Cowden syndrome-1 (158350). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS).
Juvenile polyposis syndrome Other names Retention polyps Micrograph of a gastric juvenile polyp, as may be seen in juvenile polyposis syndrome. H&E stain Juvenile polyposis syndrome is an autosomal dominant genetic condition characterized by the appearance of multiple juvenile polyps in the gastrointestinal tract. Polyps are abnormal growths arising from a mucous membrane . These usually begin appearing before age 20, but the term juvenile refers to the type of polyp (i.e benign hamartoma, as opposed to adenoma for example), not to the age of the affected person. [1] While the majority of the polyps found in juvenile polyposis syndrome are non- neoplastic , hamartomatous , self-limiting and benign, there is an increased risk of adenocarcinoma . Solitary juvenile polyps most commonly occur in the rectum and present with rectal bleeding. The World Health Organization criteria for diagnosis of juvenile polyposis syndrome are one of either: More than five juvenile polyps in the colon or rectum; or Juvenile polyps throughout the gastrointestinal tract ; or Any number of juvenile polyps in a person with a family history of juvenile polyposis. [2] Contents 1 Presentation 2 Genetics 3 Screening 4 Treatment 5 Prognosis 6 References 7 Further reading 8 External links Presentation [ edit ] Age of onset is variable.
A number sign (#) is used with this entry because juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT) is caused by heterozygous mutation in the SMAD4 gene (600993) on chromosome 18q21. Description The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS; 174900) and hereditary hemorrhagic telangiectasia (HHT; 187300) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010). Clinical Features Cox et al. (1980) described a 28-year-old woman and her 10-year-old daughter with this combination. Both showed severe digital clubbing. Polyps were discovered in the colon of the daughter at age 5 years.
The structure of chromatin can be changed (remodeled) to alter how tightly regions of DNA are packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is often lower than when DNA is loosely packed.
Pregnancy Management As no females with CSS have been reported to reproduce, potential complications of pregnancy are unknown. Therapies Under Investigation Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.
A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations. Epidemiology More than 150 cases of genetically confirmed Coffin-Siris syndrome (CSS) have been clinically reported to date. Exact prevalence and incidence are not known but the disorder is probably under-recognized. Clinical description Coffin-Siris syndrome is a clinically and genetically heterogeneous disorder. It involves a wide range of major and minor clinical findings. Characteristic major features include mild to severe developmental or cognitive delay (in all patients), fifth finger nail/distal phalanx hypoplasia or aplasia (almost all patients at birth), and coarse facial features (commonly observed over time).
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-9 (CSS9) is caused by heterozygous mutation in the SOX11 gene (600898) on chromosome 2p25. Description Coffin-Siris syndrome 9 is characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails (Tsurusaki et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). Clinical Features Tsurusaki et al. (2014) applied whole-exome sequencing to 92 patients meeting the diagnostic criteria for Coffin-Siris syndrome (CSS; 135900) and identified 2 de novo SOX11 mutations in 2 unrelated female patients. Both patients showed dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability.
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-6 (CSS6) is caused by heterozygous mutation in the ARID2 gene (609539) on chromosome 12q12. Description Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-1 (CSS1) is caused by heterozygous mutation in the ARID1B gene (614556) on chromosome 6q25. Description Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris Syndrome Forms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor.
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-8 (CSS8) is caused by heterozygous mutation in the SMARCC2 gene (601734) on chromosome 12q13. Description Coffin-Siris syndrome-8 is characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities. Dysmorphic features may or may not be present and include hypertrichosis or thin scalp hair, thick eyebrows, thin upper vermilion, and upturned nose (Machol et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). Clinical Features As part of a study of 119 patients with undiagnosed genetic disorders analyzed by whole-exome sequencing, Zhu et al. (2015) identified a 7-year-old boy with failure to thrive, benign hydrocephalus, speech delay, hypotonia, elevated lactate and ammonia, vitiligo, and developmental delay.
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-4 (CSS4) is caused by heterozygous mutation in the SMARCA4 gene (603254) on chromosome 19p13. The SMARCA4 gene is one of several genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. Description Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-5 (CSS5) is caused by heterozygous mutation in the SMARCE1 gene (603111) on chromosome 17q21. Description Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
Coffin–Siris syndrome Other names Dwarfism-Onychodysplasia , Fifth Digit Syndrome , Mental Retardation with Hypoplastic 5th Fingernails and Toenails , Short Stature-Onychodysplasia Coffin–Siris syndrome is inherited in an autosomal dominant manner Coffin–Siris Syndrome is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. There had been 31 reported cases by 1991. [1] The number of occurrences since then has grown and is now reported to be around 80. [2] The differential includes Nicolaides–Baraitser syndrome . [3] Contents 1 Presentation 2 Causes 3 Diagnosis 4 Treatment 5 References 6 External links Presentation [ edit ] mild to severe intellectual disability , [4] [5] also called " developmental disability " [6] short fifth digits with hypoplastic or absent nails low birth weight feeding difficulties upon birth frequent respiratory infections during infancy hypotonia joint laxity delayed bone age microcephaly coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes Causes [ edit ] Autosomal dominant inheritance is the most likely, usually by de novo mutation. This syndrome has been associated with mutations in the ARID1B gene. [7] Mutations in SOX11 are associated to this syndrome. [8] A second gene that has been associated with this syndrome is the AT-rich interaction domain 2 ( ARID2 ) gene. [9] The diagnosis is generally based on the presence of major and at least one minor clinical sign and can be confirmed by molecular genetic testing of the causative genes. Recent studies revealed that fifth finger nail/distal phalanx hypoplasia or aplasia is not a mandatory finding. Diagnosis [ edit ] This section is empty. You can help by adding to it . ( January 2018 ) Treatment [ edit ] There is no known cure or standard for treatment.
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-3 (CSS3) is caused by heterozygous mutation in the SMARCB1 gene (601607) on chromosome 22q11. The SMARCB1 gene is one of several genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. Description Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-2 (CSS2) is caused by heterozygous mutation in the ARID1A gene (603024) on chromosome 1p36. Description Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-7 (CSS7) is caused by heterozygous mutation in the DPF2 gene (601671) on chromosome 11q13. Description Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). Clinical Features Vasileiou et al. (2018) reported 8 unrelated patients with a neurodevelopmental disorder consistent with CSS. The patients, who ranged in age from 3 to 18 years, were ascertained from several collaborative groups.
Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A , ARID1B , SMARCA4 , SMARCB1 , DPF2 or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.
Others propose that biotin transporter proteins may interact with thiamine transporters in such a way that biotin levels influence the course of the disease.
No information regarding risk to the fetus of an affected mother is available. Therapies Under Investigation Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.
A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine.
Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner.
Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine. Epidemiology Two cases have been described so far. Clinical description Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia. Etiology The disease results from mutations in the SLC19A3 gene, encoding a thiamine transporter. Genetic counseling Transmission is autosomal recessive.
A number sign (#) is used with this entry because thiamine metabolism dysfunction syndrome-2 (THMD2), also known as biotin-responsive basal ganglia disease (BBGD) or thiamine-responsive encephalopathy, is caused by homozygous or compound heterozygous mutation in the SLC19A3 gene (606152), which encodes a thiamine transporter, on chromosome 2q36. Description Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter.
No ZDHHC15 gene expression was detected in the patient's peripheral blood, whereas all controls presented normal expression levels. A WAIS-III test at age 41 years revealed that the patient had an IQ of 111, indicating that the ZDHHC15 gene in not involved in intellectual disability.
Hoffmann and Tielens (1987) commented on the fact that the use of automated flow-cytochemical analyzers in the hematology laboratory had stimulated interest in peroxidase activity of granulocytes and brought many cases of hereditary and acquired deficiency to attention. It was in this way that their case was detected. Valdes and Calero (1987) described a patient with deficiency of eosinophil peroxidase detected by flow cytochemistry.
Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response. During a normal immune response, these cells are turned on (activated), and they travel to the area of injury or inflammation . The cells then release proteins and other compounds that have a toxic effect on severely damaged cells or invading organisms. One of these proteins is called eosinophil peroxidase. In eosinophil peroxidase deficiency, eosinophils have little or no eosinophil peroxidase. A lack of this protein does not seem to affect the eosinophils' ability to carry out an immune response.
Through its interactions with these proteins, pericentrin plays a role in regulation of the cell cycle , which is the cell's way of replicating itself in an organized, step-by-step fashion.
A number sign (#) is used with this entry because microcephalic osteodysplastic primordial dwarfism type II (MOPD2) is caused by homozygous or compound heterozygous mutation in the PCNT gene (605925), encoding pericentrin, on chromosome 21q22. Description Microcephalic osteodysplastic primordial dwarfism type II is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (see 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild mental retardation (summary by Willems et al., 2010). Clinical Features In 3 unrelated children, Majewski et al. (1982) described a form of intrauterine and postnatal dwarfism with microcephaly and facial features resembling those of Seckel syndrome (see 210600) but with anomalies of bones: disproportionate shortness of forearms and legs in the first years of life, brachymesophalangy, brachymetacarpy I, V-shaped flare of at least the distal femoral metaphyses, triangular shape of the distal femoral epiphyses, high and narrow pelvis, proximal femoral epiphysiolysis, and coxa vara. They pointed to seemingly identical cases reported by Brizard et al. (1973) and Anoussakis et al. (1974).
A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. Epidemiology Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is one of the most common forms of microcephalic primordial dwarfism (MPD) and accounts for more than 150 cases worldwide. Clinical description MOPDII is congenital, with a perinatal and infancy onset. It is characterized by severe pre- and postnatal growth retardation, with proportionate severe microcephaly, skeletal dysplasia, abnormal dentition, an increased risk for cerebrovascular disease (aneurysms and Moya Moya disease in 19%-52% of cases) and insulin resistance. Intrauterine growth restriction (IUGR) is common. The average length, weight, and head occipitofrontal circumference (OFC) at birth are respectively 7.0, 3.9, and 4.6 SDs below the population mean (after correcting for gestational age <37 weeks).
Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner.
Microcephalic osteodysplastic primordial dwarfism type II Other names Majewski osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner Specialty Medical genetics Microcephalic osteodysplastic primordial dwarfism type II ( MOPD II ) is a form of dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982. [1] MOPD II is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This indicates that MOPD (or a subtype of MOPD) affects less than 200,000 people in the US population. It is associated with the protein pericentrin (PCNT). [2] Notable persons with MOPD II Lucia Zarate , sideshow entertainer See also [ edit ] Primordial dwarfism References [ edit ] ^ Majewski F, Ranke M, Schinzel A (May 1982). "Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism".
Renpenning syndrome is a genetic condition which occurs mostly in males. Signs and symptoms include the following: developmental delay, a small head (microcephaly), short stature, and distinctive facial features. Approximately two-thirds of individuals with Renpenning syndrome have moderate to severe intellectual disability. Additional features may include heart defects, muscular atrophy, cleft palate, and eye abnormalities. Renpenning syndrome is caused by mutations in the PQBP1 gene and is inherited in an X-linked recessive manner.
Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature. Epidemiology Prevalence is unknown. Clinical description The main clinical manifestations of Renpenning syndrome are usually moderate intellectual deficiency, leanness, microcephaly and short stature (relative to familial target measurements) and sometimes small testes (testicular volumes below 15 ml), that are noticed at puberty. Manifestations are expressed only in males, and female carriers show normal facial features, growth development and intelligence. Small head and brain sizes are noted at birth. Characteristic craniofacial features include long triangular faces with upslanting palpebral fissures, half-depilated eyebrows, large ridged or bulbous nose with overhanging columella, short philtrum, and cupped and laterally protruding ears. Patients are thin and show failure to thrive. Delayed motor and language development is noticed in children from an early age.
This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Renpenning's syndrome" – news · newspapers · books · scholar · JSTOR ( September 2010 ) ( Learn how and when to remove this template message ) Renpenning's syndrome Renpenning's syndrome is inherited in an X-linked recessive manner. Specialty Medical genetics Renpenning's syndrome is a neurodevelopmental disorder recognised in males that causes intellectual disability , mild growth retardation with examples in the testes and head , and a somewhat short stature. The condition only affects males, starting at birth. Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 Epidemiology 6 History 7 See also 8 References 9 External links Presentation [ edit ] People with Renpenning's typically begin learning language at an ordinary pace, but by the age of 3–4 they experience a regression in mental and physical development, such as mild low muscle tone resulting in elongated faces and rapid loss in the normal growth of the head ( microcephaly ). Small testes and short stature are also known to commonly occur. Genetics [ edit ] It is associated with mutations in the PQBP1 gene. [1] The gene product is a polyglutamine-binding protein involved in transcription and pre-mRNA splicing.
A number sign (#) is used with this entry because Renpenning syndrome is caused by mutation in the PQBP1 gene (300463) on chromosome Xp11. Description Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.
Evaluation of Relatives at Risk See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes. Therapies Under Investigation Search ClinicalTrials.gov in the US and www.ClinicalTrialsRegister.eu in Europe for access to information on clinical studies for a wide range of diseases and conditions.
A number sign (#) is used with this entry because early-onset ataxia with oculomotor apraxia and hypoalbuminemia (EAOH) is caused by homozygous or compound heterozygous mutation in the gene encoding aprataxin (APTX; 606350) on chromosome 9p21. Adult-onset ataxia with oculomotor apraxia is also caused by mutation in the APTX gene. Description Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). Genetic Heterogeneity of Ataxia-Oculomotor Apraxia See also AOA2 (606002), caused by mutation in the SETX gene (608465) on chromosome 9q34; AOA3 (615217), caused by mutation in the PIK3R5 gene (611317) on chromosome 17p; and AOA4 (616267), caused by mutation in the PNKP gene (605610) on chromosome 19q13. Clinical Features Aicardi et al. (1988) described an autosomal recessive syndrome that closely resembled ataxia-telangiectasia (AT; 208900) but differed in important respects.
Ataxia with oculomotor apraxia is a condition characterized by problems with movement that worsen over time. The hallmark of this condition is poor coordination and balance (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision. There are several types of ataxia with oculomotor apraxia, the most common of which are types 1, 2, and 4.
In the early stages of acute allergic reaction, lymphocytes previously sensitized to a specific protein or protein fraction react by quickly producing a particular type of antibody known as secreted IgE (sIgE), which circulates in the blood and binds to IgE-specific receptors on the surface of other kinds of immune cells called mast cells and basophils . ... PMID 24388012 . ^ a b c Tong WS, Yuen AW, Wai CY, Leung NY, Chu KH, Leung PS (2018). ... Clin Rev Allergy Immunol . 46 (3): 225–40. doi : 10.1007/s12016-012-8339-6 . PMID 23229594 . ^ Leung NY, Wai CY, Shu S, Wang J, Kenny TP, Chu KH, Leung PS (June 2014).
Blurred vision may also occur. [2] The symptoms can range from mild and occasional to severe and continuous. [3] Scarring of the cornea may occur in some cases without treatment. [2] Dry eye occurs when either the eye does not produce enough tears or when the tears evaporate too quickly. [2] This can result from contact lens use, meibomian gland dysfunction , pregnancy , Sjögren syndrome , vitamin A deficiency , omega-3 fatty acid deficiency, LASIK surgery , and certain medications such as antihistamines , some blood pressure medication , hormone replacement therapy , and antidepressants . [2] [3] [4] Chronic conjunctivitis such as from tobacco smoke exposure or infection may also lead to the condition. [2] Diagnosis is mostly based on the symptoms, though a number of other tests may be used. [6] Treatment depends on the underlying cause. [2] Artificial tears are the usual first line treatment. [2] Wrap around glasses that fit close to the face may decrease tear evaporation. [2] Stopping or changing certain medications may help. [2] The medication ciclosporin or steroid eye drops may be used in some cases. [2] Another option is lacrimal plugs that prevent tears from draining from the surface of the eye. [2] Dry eye syndrome occasionally makes wearing contact lenses impossible. [2] Dry eye syndrome is a common eye disease . [3] It affects 5–34% of people to some degree depending on the population looked at. [5] Among older people it affects up to 70%. [7] In China it affects about 17% of people. [8] The phrase "keratoconjunctivitis sicca" means "dryness of the cornea and conjunctiva " in Latin. [9] Contents 1 Signs and symptoms 2 Causes 2.1 Decreased tear or excessive evaporation 2.2 Additional causes 3 Pathophysiology 4 Diagnosis 5 Prevention 6 Treatment 6.1 Environmental control 6.2 Rehydration 6.2.1 Autologous serum eye drops 6.2.2 Additional options 6.3 Medication 6.3.1 Ciclosporin 6.4 Conserving tears 6.5 Other 6.6 Surgery 7 Prognosis 8 Epidemiology 9 Synonyms 10 Other animals 10.1 Dogs 10.2 Cats 11 See also 12 References 13 Further reading 14 External links Signs and symptoms [ edit ] Typical symptoms of dry eye syndrome are dryness, burning [10] and a sandy-gritty eye irritation that gets worse as the day goes on. [11] Symptoms may also be described as itchy, scratchy, stinging or tired eyes. [10] [12] Other symptoms are pain, redness, a pulling sensation, and pressure behind the eye. [4] [10] There may be a feeling that something, such as a speck of dirt, is in the eye. [4] [10] The resultant damage to the eye surface increases discomfort and sensitivity to bright light. [10] Both eyes usually are affected. [13] There may also be a stringy discharge from the eyes. ... One may experience excessive tearing in the same way as one would if something got into the eye. ... Utilizing this technique it is possible to determine the concentrations of Ap4A in the tears of patients and in such way diagnose objectively if the samples are indicative of dry eye. [26] The tear osmolarity test has been proposed as a test for dry eye disease. [27] Tear osmolarity may be a more sensitive method of diagnosing and grading the severity of dry eye compared to corneal and conjunctival staining, tear break-up time, Schirmer test, and meibomian gland grading. [28] Others have recently questioned the utility of tear osmolarity in monitoring dry eye treatment. [19] Prevention [ edit ] Avoiding refractive surgery (LASIK & PRK), limiting contact lens use, limiting computer screen use, avoiding environmental conditions can decrease symptoms. [29] Complications can be prevented by use of wetting and lubricating drops and ointments. [30] Treatment [ edit ] A variety of approaches can be taken to treatment. ... Reversing Dry Eye Syndrome: Practical Ways to Improve Your Comfort, Vision, and Appearance .
Motor nerve conduction velocities were severely reduced, and nerve biopsies showed myelin outfoldings. In the index patient of each family, visual impairment was precocious and severe, leading to a loss of vision.
Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. CMT4B2 can also cause glaucoma (damage to the eye’s optic nerve). There is currently no cure for CMT4B2, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. CMT4B2 is inherited in an autosomal recessive fashion. It is caused by mutations in the SBF1 gene .
Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.
Clinical Features Has et al. (2012) described 3 unrelated children, a boy and 2 girls, who had congenital interstitial lung disease, nephrotic syndrome, and mild epidermolysis bullosa. The index patient was a boy from southern Italy who had respiratory distress at birth requiring high-flow supplemental oxygen; chest x-ray showed severe reticulonodular changes.
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.
Mapping By genomewide linkage analysis in 2 families with horizontal gaze palsy with progressive scoliosis, Jen et al. (2002) mapped the disease locus to a 30-cM interval on chromosome 11q23-q25 (combined maximum multipoint lod score of 5.46 near marker GATA140F03). Molecular Genetics In 10 HGPPS index patients, Jen et al. (2004) identified 10 different mutations (608630.0001-608630.0010) in the ROBO3 gene.
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine ( scoliosis ). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects. Scoliosis develops in infancy or childhood and worsens over time. Scoliosis can be painful and may interfere with movement so it is often treated with surgery early in life. HGPPS is caused by changes (mutations) in the ROBO3 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Six traits were selected for linkage analysis on the basis of expert evaluation and statistical analysis, including obsessionality, age at menarche, anxiety for quantitative trait locus (QTL) linkage analysis, lifetime minimum body mass index (BMI), concern over mistakes, and food-related obsessions.
Two weeks after his visit to Lameris, Siemens encountered the index cases of the Bavarian family. The ophthalmologic features of the Lameris family were reported by Rochat (1906).
Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin condition. KFSD is a form of ichthyoses, a group of inherited conditions of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. The face, neck, and forearms are frequently involved. The thickening of the skin is accompanied by the loss of eyebrows, eyelashes, and hair on the face and head. Allergic reactions (atopy), reduced tolerance of bright light (photophobia), and inflammation of the eye's cornea (keratitis) may also occur. KFSD is thought to be caused by mutations in the SAT1 gene and inherited in an X-linked manner.
Keratosis follicularis spinulosa decalvans Other names Siemens-1 syndrome Keratosis follicularis spinulosa decalvans is a rare X-linked disorder described by Siemens in 1926, a disease that begins in infancy with keratosis pilaris localized on the face, then evolves to more diffuse involvement. [1] : 580,762 [2] : 649,714 [3] An association with SAT1 has been suggested. [4] See also [ edit ] Keratosis follicularis Hermann Werner Siemens Cicatricial alopecia List of cutaneous conditions References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. ISBN 978-1-4160-2999-1 . ^ Gimelli, G.; Giglio, S.; Zuffardi, O.; Alhonen, L.; Suppola, S.; Cusano, R.; Lo Nigro, C.; Gatti, R.; et al.
Description Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; 308800) (Castori et al., 2009). Clinical Features Bellet et al. (2008) reported a father, son, and daughter with keratosis follicularis spinulosa decalvans. The son presented at age 17 years with hair loss. He reported dryness and flaking of his scalp at the age of 10 years, which progressed to lesions and permanent hair loss. Keratosis pilaris was present on the extensor surfaces of the upper and lower extremities bilaterally.
Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.
