Injection site reactions are allergic reactions that result in cutaneous necrosis that may occur at sites of medication injection, typically presenting in one of two forms, (1) those associated with intravenous infusion or (2) those related to intramuscular injection. [1] : 123–4 Intra muscular injections may produce a syndrome called livedo dermatitis . [1] : 124 See also [ edit ] Application site reaction Vitamin K reactions Skin lesion List of cutaneous conditions References [ edit ] ^ a b James, William; Berger, Timothy; Elston, Dirk (2005).
Autosomal recessive intellectual disability 58 is a very rare genetic condition characterized by intellectual disability without identified malformations in other organs (non-syndromic) of the body. To date, there are only eight cases reported in the medical literature.
Molecular Genetics Najmabadi et al. (2011) performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arabic) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability.
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating.
Distinguishing the disorder from Jeune syndrome (208500) were the different thoracic configuration, lack of neonatal respiratory distress, and absence of acetabular spurs in infancy and of phalangeal cone-shaped epiphyses in childhood.
See 311100 for a possible X-linked optic atrophy--spastic paraplegia syndrome. Eyes - Optic atrophy - Pale optic discs - Constricted visual fields Neuro - Spastic paraplegia - Early dementia Inheritance - Autosomal dominant ▲ Close
The children had growth retardation, microcephaly, minor facial anomalies reminiscent of mild Brachmann-de Lange syndrome (BDLS; 122470), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics.
Jejunal atresia is a birth defect in a newborn characterized by partial or complete absence of the membrane connecting the small intestines to the abdominal wall (the mesentery). It causes a portion of the small intestines (the jejunum) to twist around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or " atresia ." Common symptoms in the newborn include feeding difficulties, failure to thrive , vomiting bile (a yellowish-green fluid), abdominal swelling, and/or absence of bowel movements after birth. It typically occurs sporadically in people with no family history of the condition; however, more than one family member can rarely be affected, suggesting that there may be a genetic component in some cases. Jejunal atresia is typically treated with surgery.
Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease) , and autoimmune diseases ( rheumatoid arthritis, Sjogren’s syndrome, Wegener’s granulomatosis, and IgG4-related disease) must be ruled out.
A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histiopatholgical features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestation are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness.
A reversible diving disorder that occurs when a diver descends below about 150 m using a breathing gas based on helium High-pressure nervous syndrome ( HPNS – also known as high-pressure neurological syndrome ) is a neurological and physiological diving disorder which can result when a diver descends below about 500 feet (150 m) using a breathing gas containing helium. ... However, these reports were not available in the West until 1967. [3] The term high-pressure nervous syndrome was first used by Brauer in 1968 to describe the combined symptoms of tremor, electroencephalography (EEG) changes, and somnolence that appeared during a 1,189-foot (362 m) chamber dive in Marseille . [4] Contents 1 Symptoms 2 Causes 3 Prevention 4 In popular culture 5 See also 6 References 7 External links Symptoms [ edit ] Symptoms of HPNS include tremors , myoclonic jerking , somnolence , EEG changes, [5] visual disturbance, nausea , dizziness , and decreased mental performance. [1] [2] Causes [ edit ] HPNS has two components, one resulting from the speed of compression and the other from the absolute pressure. ... See also [ edit ] Nitrogen narcosis – Reversible narcotic effects of respiratory nitrogen at elevated partial pressures Decompression sickness – Disorder caused by dissolved gases in the tissues forming bubbles during reduction of the surrounding pressure References [ edit ] ^ a b c d e f g h Bennett, Peter B; Rostain, Jean Claude (2003). "The High Pressure Nervous Syndrome". In Brubakk, Alf O; Neuman, Tom S (eds.). ... Fructus; A. Gosset; R. Naquet. (1968). "Syndrome neurologique et electrographique des hautes pressions". ... "The causes, mechanisms and prevention of the high pressure nervous syndrome" . Undersea Biomed. Res . 1 (1): 1–28.
CSF1R -related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is characterized by executive dysfunction, memory decline, personality changes, motor impairments, and seizures. A frontal lobe syndrome (e.g., loss of judgment, lack of social inhibitors, lack of insight, and motor persistence) usually appears early in the disease course. ... Clinical Characteristics Clinical Description CSF1R- related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is characterized by a constellation of findings including executive dysfunction, memory decline, personality changes, motor impairments, and seizures. A frontal lobe syndrome (including loss of judgment, lack of social inhibitors, lack of insight, and motor persistence) usually appears early in the disease course. ... Fabry disease GLA WML Gray matter pathology Mitochondrial disorders (caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA) Leigh syndrome mtDNA deletion Psychomotor regression; WML may be present in adult mt diseases Strikingly different clinical presentation; brain MRI in mt diseases may demonstrate symmetric T 1 -weighted hypointense & T 2 -weighted hyperintense signal abnormalities in deep gray matter; abnormalities are not restricted to vascular territories; lesions often fluctuate over the course of the disease. ... MELAS MT-TL1 or other mtDNA genes Alpers-Huttenlocher syndrome POLG 1 MNGIE TYMP 1 Other (complex multifactorial inheritance/sporadic) Primary progressive multiple sclerosis (PPMS) WML Cognitive decline occurs later; callosomarginal lesions occur. Confluent WML in frontoparietal areas are more consistent w/ CSF1R -related ALSP than w/PPMS 2 . Susac syndrome Cognitive impairment, behavioral changes Branch retinal artery inclusions, tinnitus, hearing loss, vertigo; gray matter lesions Frontotemporal lobar degeneration The combination of FTD & atypical parkinsonism is characterized by multisystem atrophy & progressive supranuclear palsy; the addition of ALS can mimic clinical ALSP.
Molecular Genetics Bell et al. (1999) identified heterozygous germline mutations in CHK2 in patients with Li-Fraumeni syndrome-2 (609265). Bell et al. (1999) suggested that CHK2 is a tumor suppressor gene conferring predisposition to sarcoma, breast cancer, and brain tumors, and that their observations provided a link between the central role of p53 (191170) inactivation in human cancer and the well-defined G2 checkpoint in yeast. Vahteristo et al. (2001) analyzed the CHK1 (603078), CHK2, and p53 genes for mutations in 44 Finnish families with Li-Fraumeni syndrome, Li-Fraumeni-like syndrome (see 151623), or a phenotype suggestive of Li-Fraumeni syndrome. ... Because inherited CHK2 mutations are found in some Li-Fraumeni cancer syndrome families, Miller et al. (2002) examined the role of CHK2 mutations in sporadic cancer. ... The finding of CHK2 gene mutations were consistent with osteosarcoma being a defining tumor of Li-Fraumeni syndrome. The occurrence of CHK2 mutations in sporadic cancers emphasized the importance of the stress pathway, which includes TP53. ... They further concluded, in light of the finding of 2 mutations in CHK2 in patients with Li-Fraumeni syndrome (Bell et al., 1999), that the results provided a mechanistic link between Chk2 and p53 to explain the phenotypic similarity of these 2 genetically distinct Li-Fraumeni syndrome families.
Caries often occur in the cervical regions of teeth , where the tooth surface narrows at the junction of the crown and the root; decay is primarily centered on the buccal ( cheek ) side of the teeth, and on tooth surfaces that are adjacent to incisors and canines . [3] [5] Eventually, the coronal tooth area (near the crown) can be affected by the decay and erosion. [6] The dental caries of meth mouth often progress slowly, perhaps because their advancement is hindered by intermittent hygienic practices. [5] The decay can lead to tooth fractures and severe pain. [3] In some cases, teeth are permanently damaged and must be removed . [5] Along with malnutrition and weight loss, the dental effects of methamphetamine use contribute to the appearance of premature aging seen in some users. [1] Methamphetamine users sometimes experience soreness in the joint of the jaw and dental attrition (tooth wear) due to bruxism, a common side effect of stimulant drugs. [5] This bruxism can occur continuously. [7] Chronic use of the drug might also cause trismus , the inability to open the jaw. [8] The effects of meth mouth are similar to those of Sjögren's syndrome , an autoimmune disease that causes a lack of saliva , which results in tooth decay. [5] [6] Causes [ edit ] Powder methamphetamine on tin foil The hypothesized causes of meth mouth are a combination of MA side effects and lifestyle factors which may be present in users: Dry mouth (xerostomia) [9] Clenching and grinding of the teeth (bruxism) Infrequent oral hygiene [9] Frequent consumption of sugary, fizzy drinks [9] Caustic nature of methamphetamine [9] The dental effects of long-term methamphetamine use are often attributed to its effects on saliva. [4] The reduction in saliva increases the likelihood of dental caries, enamel erosion, and periodontal disease . ... Pilocarpine and cevimeline are sialogogues approved by the Food and Drug Administration (FDA) to treat low salivation caused by Sjögren syndrome and may have the potential to effectively treat dry mouth caused by methamphetamine use. [13] Uncertainty [ edit ] There have not been any controlled studies on meth mouth, and several of its aspects are unclear. [11] Although the condition has been popularized by media coverage and case reports, no systematic studies have been conducted to conclusively tie methamphetamine use to symptoms that are commonly described as meth mouth. ... American Dental Association Overview of Meth Mouth Meth Mouth Image Gallery at CBSNews.com v t e Methamphetamine Enantiomers Dextromethamphetamine Levomethamphetamine Neuropharmacology Biomolecular targets TAAR1 (agonist) σ1R (agonist) σ2R (agonist) α 2A adrenoceptor (agonist) α 2B adrenoceptor (agonist) α 2C adrenoceptor (agonist) MAO ( competitive inhibitor ) Inhibited transporters DAT NET SERT VMAT1 VMAT2 EAAT1 EAAT2 SLC22A3 SLC22A5 Health Amphetamine dependence Meth mouth Prenatal methamphetamine exposure History and culture Amphetamine Crystal Darkness Crystal Meth Anonymous Faces of Meth History and culture of amphetamines Montana Meth Project No More Sunsets Party and play Rolling meth lab Ya ba Law Legal status Combat Methamphetamine Epidemic Act of 2005 Comprehensive Methamphetamine Control Act of 1996 Illinois Methamphetamine Precursor Control Act Ethnicity and nationality United States Native Americans Australia v t e Oral and maxillofacial pathology Lips Cheilitis Actinic Angular Plasma cell Cleft lip Congenital lip pit Eclabium Herpes labialis Macrocheilia Microcheilia Nasolabial cyst Sun poisoning Trumpeter's wart Tongue Ankyloglossia Black hairy tongue Caviar tongue Crenated tongue Cunnilingus tongue Fissured tongue Foliate papillitis Glossitis Geographic tongue Median rhomboid glossitis Transient lingual papillitis Glossoptosis Hypoglossia Lingual thyroid Macroglossia Microglossia Rhabdomyoma Palate Bednar's aphthae Cleft palate High-arched palate Palatal cysts of the newborn Inflammatory papillary hyperplasia Stomatitis nicotina Torus palatinus Oral mucosa – Lining of mouth Amalgam tattoo Angina bullosa haemorrhagica Behçet's disease Bohn's nodules Burning mouth syndrome Candidiasis Condyloma acuminatum Darier's disease Epulis fissuratum Erythema multiforme Erythroplakia Fibroma Giant-cell Focal epithelial hyperplasia Fordyce spots Hairy leukoplakia Hand, foot and mouth disease Hereditary benign intraepithelial dyskeratosis Herpangina Herpes zoster Intraoral dental sinus Leukoedema Leukoplakia Lichen planus Linea alba Lupus erythematosus Melanocytic nevus Melanocytic oral lesion Molluscum contagiosum Morsicatio buccarum Oral cancer Benign: Squamous cell papilloma Keratoacanthoma Malignant: Adenosquamous carcinoma Basaloid squamous carcinoma Mucosal melanoma Spindle cell carcinoma Squamous cell carcinoma Verrucous carcinoma Oral florid papillomatosis Oral melanosis Smoker's melanosis Pemphigoid Benign mucous membrane Pemphigus Plasmoacanthoma Stomatitis Aphthous Denture-related Herpetic Smokeless tobacco keratosis Submucous fibrosis Ulceration Riga–Fede disease Verruca vulgaris Verruciform xanthoma White sponge nevus Teeth ( pulp , dentin , enamel ) Amelogenesis imperfecta Ankylosis Anodontia Caries Early childhood caries Concrescence Failure of eruption of teeth Dens evaginatus Talon cusp Dentin dysplasia Dentin hypersensitivity Dentinogenesis imperfecta Dilaceration Discoloration Ectopic enamel Enamel hypocalcification Enamel hypoplasia Turner's hypoplasia Enamel pearl Fluorosis Fusion Gemination Hyperdontia Hypodontia Maxillary lateral incisor agenesis Impaction Wisdom tooth impaction Macrodontia Meth mouth Microdontia Odontogenic tumors Keratocystic odontogenic tumour Odontoma Dens in dente Open contact Premature eruption Neonatal teeth Pulp calcification Pulp stone Pulp canal obliteration Pulp necrosis Pulp polyp Pulpitis Regional odontodysplasia Resorption Shovel-shaped incisors Supernumerary root Taurodontism Trauma Avulsion Cracked tooth syndrome Vertical root fracture Occlusal Tooth loss Edentulism Tooth wear Abrasion Abfraction Acid erosion Attrition Periodontium ( gingiva , periodontal ligament , cementum , alveolus ) – Gums and tooth-supporting structures Cementicle Cementoblastoma Gigantiform Cementoma Eruption cyst Epulis Pyogenic granuloma Congenital epulis Gingival enlargement Gingival cyst of the adult Gingival cyst of the newborn Gingivitis Desquamative Granulomatous Plasma cell Hereditary gingival fibromatosis Hypercementosis Hypocementosis Linear gingival erythema Necrotizing periodontal diseases Acute necrotizing ulcerative gingivitis Pericoronitis Peri-implantitis Periodontal abscess Periodontal trauma Periodontitis Aggressive As a manifestation of systemic disease Chronic Perio-endo lesion Teething Periapical, mandibular and maxillary hard tissues – Bones of jaws Agnathia Alveolar osteitis Buccal exostosis Cherubism Idiopathic osteosclerosis Mandibular fracture Microgenia Micrognathia Intraosseous cysts Odontogenic : periapical Dentigerous Buccal bifurcation Lateral periodontal Globulomaxillary Calcifying odontogenic Glandular odontogenic Non-odontogenic: Nasopalatine duct Median mandibular Median palatal Traumatic bone Osteoma Osteomyelitis Osteonecrosis Bisphosphonate-associated Neuralgia-inducing cavitational osteonecrosis Osteoradionecrosis Osteoporotic bone marrow defect Paget's disease of bone Periapical abscess Phoenix abscess Periapical periodontitis Stafne defect Torus mandibularis Temporomandibular joints , muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities Bruxism Condylar resorption Mandibular dislocation Malocclusion Crossbite Open bite Overbite Overeruption Overjet Prognathia Retrognathia Scissor bite Maxillary hypoplasia Temporomandibular joint dysfunction Salivary glands Benign lymphoepithelial lesion Ectopic salivary gland tissue Frey's syndrome HIV salivary gland disease Necrotizing sialometaplasia Mucocele Ranula Pneumoparotitis Salivary duct stricture Salivary gland aplasia Salivary gland atresia Salivary gland diverticulum Salivary gland fistula Salivary gland hyperplasia Salivary gland hypoplasia Salivary gland neoplasms Benign: Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: Acinic cell carcinoma Adenocarcinoma Adenoid cystic carcinoma Carcinoma ex pleomorphic adenoma Lymphoma Mucoepidermoid carcinoma Sclerosing polycystic adenosis Sialadenitis Parotitis Chronic sclerosing sialadenitis Sialectasis Sialocele Sialodochitis Sialosis Sialolithiasis Sjögren's syndrome Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia Melkersson–Rosenthal syndrome Microstomia Noma Oral Crohn's disease Orofacial granulomatosis Perioral dermatitis Pyostomatitis vegetans Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease
An infant with anencephaly and acrania It is known that people taking certain anticonvulsants and people with insulin-dependent diabetes have a higher risk of having a child with a neural tube defect. [15] Relation to genetic ciliopathy [ edit ] Until recently, medical literature did not indicate a connection among many genetic disorders , both genetic syndromes and genetic diseases , that are now being found to be related. ... The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and, thus, offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases. Known ciliopathies include primary ciliary dyskinesia , Bardet–Biedl syndrome , polycystic kidney and liver disease , nephronophthisis , Alström syndrome , Meckel–Gruber syndrome , and some forms of retinal degeneration . [16] Diagnosis [ edit ] Ultrasound image of fetus with anencephaly. ... Retrieved 2013-08-23 . ^ Chen, Chih-Ping (2008). "Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (III)" . ... External links [ edit ] Classification D ICD - 10 : Q00.0 ICD - 9-CM : 740.0 OMIM : 206500 MeSH : D000757 DiseasesDB : 705 External resources MedlinePlus : 001580 eMedicine : neuro/639 Wikimedia Commons has media related to Anencephaly . v t e Congenital malformations and deformations of nervous system Brain Neural tube defect Anencephaly Acephaly Acrania Acalvaria Iniencephaly Encephalocele Chiari malformation Other Microcephaly Congenital hydrocephalus Dandy–Walker syndrome other reduction deformities Holoprosencephaly Lissencephaly Microlissencephaly Pachygyria Hydranencephaly Septo-optic dysplasia Megalencephaly Hemimegalencephaly CNS cyst Porencephaly Schizencephaly Polymicrogyria Bilateral frontoparietal polymicrogyria Spinal cord Neural tube defect Spina bifida Rachischisis Other Currarino syndrome Diastomatomyelia Syringomyelia
Disorders that fall into this category include glucocorticoid remediable aldosteronism (103900), the syndrome of apparent mineralocorticoid excess (218030), and Liddle syndrome (177200), which is known to be caused by a mutation in either the beta subunit or the gamma subunit of the renal epithelial sodium channel. Unlike the preceding conditions, hypotension characterizes the following mendelian disorders: pseudohypoaldosteronism type 1 (264350), which can be produced by mutation in either the alpha subunit (600228) or the beta subunit (600760) of the same epithelial sodium channel involved in Liddle syndrome; and Gitelman syndrome (263800), which is caused by mutations in the thiazide-sensitive Na-Cl cotransporter (600968). Lifton et al. (2001) reviewed rare syndromic forms of hyper- and hypotension showing mendelian inheritance, for some of which the underlying mutations have been identified by positional cloning and candidate gene analyses. ... Pending Linkage and Association Studies Chromosome 1p36.3-p36.2 Tumor necrosis factor receptor-2 (TNFRSF1B; 191191) has been implicated in insulin resistance and metabolic syndrome disorders such as hypertension. ... Chromosome 18p11 Studies in hypertensive humans and rats, as well as in familial orthostatic hypotensive syndrome (143850), suggested that chromosome 18 may have a role in hypertension.
Hypertension is a key feature of some rare genetic disorders, including familial hyperaldosteronism, pseudohypoaldosteronism type 2, Liddle syndrome, and tumors known as paragangliomas.
Overview Molluscum contagiosum (mo-LUS-kum kun-tay-jee-OH-sum) is a fairly common skin infection caused by a virus. It causes round, firm, painless bumps ranging in size from a pinhead to a pencil eraser. If the bumps are scratched or injured, the infection can spread to nearby skin. Molluscum contagiosum also spreads through person-to-person contact and contact with infected objects. Though most common in children, molluscum contagiosum can affect adults as well — particularly those with weakened immune systems.
