Antihistamines are of questionable benefit in this instance since histamine is not the causative factor. [ citation needed ] Exercise [ edit ] The condition was first distinguished in 1980. People with exercise urticaria (EU) experience hives, itchiness, shortness of breath and low blood pressure five to 30 minutes after beginning exercise. ... Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. ... Antihistamines [ edit ] Non-sedating antihistamines that block histamine H1 receptors are the first line of therapy. First-generation antihistamines , such as diphenhydramine or hydroxyzine , block both brain and peripheral H1 receptors, and cause sedation. ... Hippocrates in the 4th century first described urticaria as "knidosis" after the Greek word knido for nettle. [54] The discovery of mast cells by Paul Ehrlich in 1879 brought urticaria and similar conditions under a comprehensive idea of allergic conditions. [55] See also [ edit ] Urticarial vasculitis References [ edit ] ^ a b c d e "Hives" . ... PMID 23432142 . ^ Kaplan AP (2009). "What the first 10,000 patients with chronic urticaria have taught me: a personal journey".
Beare et al. (1966) described an Irish family in which 4 persons in 3 generations suffered from annular erythema. Inheritance - Autosomal dominant Skin - Annular erythema ▲ Close
Figurate erythema Specialty Dermatology Figurate erythema is a form of erythema that presents in a ring or an arc shape. [1] An example is erythema marginatum . References [ edit ] ^ Robert Parker; Asheesh Sharma (October 2008). General Medicine . Elsevier Health Sciences. pp. 102–. ISBN 978-0-7234-3461-0 . Retrieved 1 May 2011 . v t e Urticaria and erythema Urticaria ( acute / chronic ) Allergic urticaria Urticarial allergic eruption Physical urticaria Cold urticaria Familial Primary cold contact urticaria Secondary cold contact urticaria Reflex cold urticaria Heat urticaria Localized heat contact urticaria Solar urticaria Dermatographic urticaria Vibratory angioedema Pressure urticaria Cholinergic urticaria Aquagenic urticaria Other urticaria Acquired C1 esterase inhibitor deficiency Adrenergic urticaria Exercise urticaria Galvanic urticaria Schnitzler syndrome Urticaria-like follicular mucinosis Angioedema Episodic angioedema with eosinophilia Hereditary angioedema Erythema Erythema multiforme / drug eruption Erythema multiforme minor Erythema multiforme major Stevens–Johnson syndrome , Toxic epidermal necrolysis panniculitis ( Erythema nodosum ) Acute generalized exanthematous pustulosis Figurate erythema Erythema annulare centrifugum Erythema marginatum Erythema migrans Erythema gyratum repens Other erythema Necrolytic migratory erythema Erythema toxicum Erythroderma Palmar erythema Generalized erythema This cutaneous condition article is a stub . You can help Wikipedia by expanding it . v t e
In 2 instances the apparently autosomal dominant trait was transmitted from father to son. ... Lab - Elevated serum alkaline phosphatase with no disease Inheritance - ? Autosomal dominant ▲ Close
Winchester (1958) reported a 6-generation family segregating a 'rather conspicuous point or tubercle' on the infolded edge of the outer portion of the ear, the so-called 'Darwin's ear point,' as an autosomal dominant with incomplete penetrance. The trait showed variable expressivity, being unilateral in some affected individuals and bilateral in others. ... They noted that to date there was no clinical significance or specific syndromic association attached to the Darwinian tubercle. INHERITANCE - Autosomal dominant HEAD & NECK Ears - Expansion of helical fold at superior point of true longitudinal axis of ear ▲ Close
Badejo (1984) suspected that the father in each family might be a carrier of a sex-limited autosomal dominant gene. Kupfer et al. (1992) reported a mother and daughter with the condition. ... Thorax - Unilateral giant breast Inheritance - Sex-limited autosomal dominant ▲ Close
A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.
Gigantomastia is a rare condition characterized by excessive breast growth. It may occur spontaneously, during puberty or pregnancy, or while taking certain medications. There is no universally accepted definition of gigantomastia, but the majority of medical articles refer to a particular weight of excess breast tissue. Symptoms of gigantomastic may include mastalgia (breast pain), ulceration/infection, posture problems, back pain and chronic traction injury to 4th/5th/6th intercostal nerves with resultant loss of nipple sensation. It is also associated with decreased fetal growth, if it occurs during pregnancy.
The findings suggested a loss of function, although a dominant-negative effect could not be ruled out. ... There was a decrease in neurons in the cortical plate and an accumulation of cells within the ventricular and intermediate zones. INHERITANCE - Autosomal dominant HEAD & NECK Head - Microcephaly (-2.5 to -4 SD) Eyes - Microphthalmia (1 patient) - Retinal dysplasia (1 patient) NEUROLOGIC Central Nervous System - Delayed psychomotor development, severe - Delayed speech - Ataxia - Dysmorphic basal ganglia - White matter streaks - Corpus callosum abnormalities - Brainstem hypoplasia - Cerebellar hypoplasia - Cortical dysplasia (1 patient) - Polymicrogyria (1 patient) - Band heterotopia (1 patient) MISCELLANEOUS - Three unrelated patients have been reported (last curated April 2014) - Onset at birth - De novo mutation MOLECULAR BASIS - Caused by mutation in the beta-tubulin gene (TUBB, 191130.0001 ) ▲ Close
CMTX1 is transmitted as an X-linked dominant trait and males are more severely affected than females, whereas the other CMTX types are X-linked recessive and female carriers are usually unaffected. ... Genetic counseling As an X-linked dominant trait, there is no male-to-male transmission; female carriers are usually mildly affected and have a 50% risk of transmitting the disease to their offspring.
Clinical Features Schonberger et al. (2000) described 2 kindreds with autosomal dominant transmission and age-related penetrance of both sensorineural hearing loss and dilated cardiomyopathy (DCM) in the absence of other disorders. ... The authors noted that previously described mutations causing dilated cardiomyopathy affected structural proteins, whereas EYA4 is a transcriptional coactivator. INHERITANCE - Autosomal dominant HEAD & NECK Ears - Hearing loss, sensorineural, postlingual CARDIOVASCULAR Heart - Progressive heart failure - Sudden death - Left ventricular dilation - Left ventricular dysfunction - Hypertrophic myocytes with enlarged hyperchromatic nuclei - Increased interstitial fibrous connective tissue MISCELLANEOUS - Based on description of one family (MCE) - Some family members had hearing loss and no detectable heart disease MOLECULAR BASIS - Caused by mutation in the EYA transcriptional coactivator and phosphatase 4 gene (EYA4, 603350.0003 ) ▲ Close
Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
Wheezing and hemoptysis (coughing up blood) are common features, and mucus plugging is seen in 31–69% of patients. [8] Blood tests and serology [ edit ] The first stage involves exposing the skin to Aspergillus fumigatus antigens; an immediate reaction is hallmark of ABPA. [23] The test should be performed first by skin prick testing, and if negative followed with an intradermal injection. ... External links [ edit ] Classification D ICD - 10-CM : B44.81 ICD - 9-CM : 518.6 OMIM : 103920 MeSH : D001229 DiseasesDB : 956 External resources MedlinePlus : 000070 Orphanet : 1164 Fungal Research Trust Aspergillus Website Allergic Bronchopulmonary Aspergillosis — GP Notebook Medpix.
Contents 1 Prevalence 2 National response 3 See also 4 References Prevalence [ edit ] The first cases of HIV / AIDS in Mali were reported in 1985. ... Cultural factors related to HIV vulnerability may include male dominance of women , the early onset of sexual activity among females , and polygamy , while poverty may result in increased prostitution .
Contents 1 Signs and symptoms 2 Diagnosis 2.1 Types 3 Treatment 4 References 5 External links Signs and symptoms [ edit ] Most patients have symptoms in the first year of life. It is rare for symptoms to be undetected until adulthood, and usually adults have associated complications. ... External links [ edit ] Classification D ICD - 10 : Q44.4 ICD - 9-CM : 751.69 MeSH : D015529 DiseasesDB : 2527 External resources eMedicine : article/172099 article/366004 article/934267 v t e Cystic diseases Respiratory system Langerhans cell histiocytosis Lymphangioleiomyomatosis Cystic bronchiectasis Skin stratified squamous: follicular infundibulum Epidermoid cyst and Proliferating epidermoid cyst Milia Eruptive vellus hair cyst outer root sheath Trichilemmal cyst and Pilar cyst and Proliferating trichilemmal cyst and Malignant trichilemmal cyst sebaceous duct Steatocystoma multiplex and Steatocystoma simplex Keratocyst nonstratified squamous: Cutaneous ciliated cyst Hidrocystoma no epithelium: Pseudocyst of the auricle Mucocele other and ungrouped: Cutaneous columnar cyst Keratin implantation cyst Verrucous cyst Adenoid cystic carcinoma Breast cyst Human musculoskeletal system Cystic hygroma Human digestive system oral cavity: Cysts of the jaws Odontogenic cyst Periapical cyst Dentigerous cyst Odontogenic keratocyst Nasopalatine duct cyst liver: Polycystic liver disease Congenital hepatic fibrosis Peliosis hepatis bile duct: Biliary hamartomas Caroli disease Choledochal cysts Bile duct hamartoma Nervous system Cystic leukoencephalopathy Genitourinary system Polycystic kidney disease Autosomal dominant polycystic kidney Autosomal recessive polycystic kidney Medullary cystic kidney disease Nephronophthisis Congenital cystic dysplasia Other conditions Hydatid cyst Von Hippel–Lindau disease Tuberous sclerosis v t e Congenital malformations and deformations of digestive system Upper GI tract Tongue , mouth and pharynx Cleft lip and palate Van der Woude syndrome tongue Ankyloglossia Macroglossia Hypoglossia Esophagus EA/TEF Esophageal atresia: types A, B, C, and D Tracheoesophageal fistula: types B, C, D and E esophageal rings Esophageal web (upper) Schatzki ring (lower) Stomach Pyloric stenosis Hiatus hernia Lower GI tract Intestines Intestinal atresia Duodenal atresia Meckel's diverticulum Hirschsprung's disease Intestinal malrotation Dolichocolon Enteric duplication cyst Rectum / anal canal Imperforate anus Rectovestibular fistula Persistent cloaca Rectal atresia Accessory Pancreas Annular pancreas Accessory pancreas Johanson–Blizzard syndrome Pancreas divisum Bile duct Choledochal cysts Caroli disease Biliary atresia Liver Alagille syndrome Polycystic liver disease
History Brodie (1846) is said to have first described diffuse symmetrical lipomatosis with predilection for the neck. It was called 'Fetthals" (fat neck) by Madelung (1888). Inheritance - Autosomal dominant Neuro - Somatic and autonomic neuropathy Skin - Neck collar of fat - Multiple lipomata ▲ Close
MSL can also be transmitted following an autosomal dominant mode of inheritance. Management and treatment In some patients, treatment may not be required.
Multiple symmetric lipomatosis is a rare condition characterized by the symmetric growth of fatty tumors ( lipomas ) around the neck, shoulders, upper arms and/or upper trunk. It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person. Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain. The lipomas can cause physical deformity and peripheral neuropathy, when they compress a nerve.
Benign symmetric lipomatosis Other names Benign symmetric lipomatosis of Launois–Bensaude, Madelung's disease, multiple symmetric lipomatosis, cephalothoracic lipodystrophy A young man with benign symmetric lipomatosis (Madelung's disease) of unknown cause Specialty Endocrinology Benign symmetric lipomatosis is a skin condition characterized by extensive symmetric fat deposits in the head, neck, and shoulder girdle area. [1] The German surgeon Otto Wilhelm Madelung was the first to give a detailed description of the disorder.
Constraint-induced movement therapy is a newer form of physical therapy for SHCP that involves casting or splinting the unaffected arm to promote the use of the affected arm (Taub).
An acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.
A significant minority of those with trypophobia meet the DSM-5 criteria for obsessive–compulsive disorder. [3] Martínez-Aguayo et al. stated that other findings refer to trypophobia having common comorbid psychiatric diagnosis, such as major depressive disorder or generalized anxiety disorder , although Le et al. felt that general anxiety does not cause trypophobia. [3] Treatment [ edit ] There are no known treatments for trypophobia, but exposure therapy , which has been used to treat phobias, is likely to be effective for treating trypophobia. [1] Epidemiology [ edit ] The extent to which trypophobia exists is unknown, [1] but the available data suggests that having an aversion to trypophobic imagery is relatively common. [1] [2] [3] 16% of a sample of 286 participants in a 2013 study reported discomfort or repulsion when presented with an image of a lotus seed pod and its authors found that non-trypophobic individuals also experienced more discomfort when viewing trypophobic imagery than when viewing neutral images. [1] Trypophobia appears to be more prevalent in women. [3] Society and culture [ edit ] The term trypophobia is believed to have been coined by a participant in an online forum in 2005. [5] The word is from the Greek : τρῦπα , trŷpa , meaning "hole" and φόβος , phóbos , meaning "fear". [5] Groups on social media sites such as Facebook and Instagram exist for self-identified trypophobics to share and discuss images that they say induce the reaction. [5] [11] Because trypophobia is not well known to the general public, many people with the condition do not know the name for it and believe that they are alone in their trypophobic reactions and thoughts until they find an online community to share them with. [12] This has led to an increase in trypophobic images on social media; in some cases, people seek to intentionally induce trypophobia in those who have it by showing them trypophobic images, with the most trypophobic-inducing images being holes and clusters (especially the lotus seedhead) photoshopped onto human skin. [12] Cole and Wilkins also stated that the level of disgust with trypophobia increases if the holes are on human skin. [12] Writing in Popular Science , Jennifer Abbasi argues that emotional contagion within such social media groups may be responsible for some of the aversive reactions to such images. [5] In 2017, trypophobia received media attention when American Horror Story featured a trypophobic character [13] and trypophobia-inducing advertisements promoting the storyline; some people were disturbed by the imagery, [12] [14] and criticized the show for "insensitivity towards sufferers of trypophobia". [14] Although there was sentiment that the increased media attention could lead to people trying to induce trypophobia, there were also opinions that it might help people understand trypophobia and encourage more research on the matter. [12] Some users responded to the September 2019 release of Apple's iPhone 11 Pro , which features three closely spaced camera lenses, with comments that it triggered their trypophobia. [15] Writer and editor Kathleen McAuliffe suggested that trypophobia is yet to be extensively studied because researchers have not given as much attention to topics of disgust as they have to other areas of research, and because of the revulsion viewing the images could incite in researchers. [16] See also [ edit ] List of phobias References [ edit ] ^ a b c d e f g h i j k l Milosevic, Irena; McCabe, Randi E. (2015).
Systemic blood flow is diverted to pulmonary flow, elevating pressures in the pulmonary venous system, and promoting leaks of proteinaceous and lipid-rich fluids from the lymphatics into the bronchial tree. [2] Diagnosis [ edit ] Plastic bronchitis cast The diagnosis of plastic bronchitis is confirmed by recovery of casts that have been coughed up or visualized during a bronchoscopy.
The authors suggested that SEMDSP might be genetically heterogeneous, but noted that they could not exclude the possibility of deep intronic or promoter variants, large intragenic rearrangements, or large intragenic deletions in the TONSL gene in the latter patients.
A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.
Management is supportive. [ citation needed ] Epidemiology [ edit ] This condition is considered to be rare with less than 100 cases reported in the literature. [ citation needed ] History [ edit ] This condition was first described in 1983. [8] References [ edit ] ^ Cooper HA, Crowe J, Butler MG (2000) Sponastrime dysplasia: report of an 11-year-old boy and review of the literature.
BORSD is inherited in an autosomal dominant manner. The offspring of an affected individual are at a 50% risk of inheriting the pathogenic variant. ... Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected.