Pinheiro and Freire-Maia (1979) suggested that the syndrome had 2 forms: a 'major' form in males, and a 'minor' form in females. ... Halperin and Curtis (1942) reported an association with mental retardation, but this is usually not a feature of the syndrome. Affected Females In the family reported by Roberts (1929), skin involvement in heterozygous females was patchy. ... Van Steensel and van der Hout (2009) suggested that Lelis syndrome may be a manifestation of X-linked HED. ... The designation they proposed, Christ-Siemens-Touraine (CST) syndrome, runs the risk of confusion with the CRST syndrome (calcinosis-Raynaud-sclerodactyly-telangiectasia; see 181750), which has phenotypic similarities to the Osler-Rendu-Weber syndrome (187300). ... History Thurnam (1848) reported 2 male first cousins and described a carrier, their maternal grandmother, with a hereditary syndrome associated with sparse hair, missing teeth, and dry skin.
A number sign (#) is used with this entry because of evidence that autosomal recessive hypohidrotic ectodermal dysplasia-11B (ECTD11B) can be caused by homozygous mutation in the EDAR (604095)-associated death domain gene (EDARADD; 606603) on chromosome 1q42-q43. Description Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).
A number sign (#) is used with this entry because autosomal dominant ectodermal dysplasia-10A is caused by heterozygous mutation in the ectodysplasin anhidrotic receptor gene (EDAR; 604095) on chromosome 2q13. Description Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).
A number sign (#) is used with this entry because autosomal dominant ectodermal dysplasia-11A (ECTD11A) is caused by heterozygous mutation in the EDAR (604095)-associated death domain gene (EDARADD; 606603) on chromosome 1q42-q43. Description Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).
The existence of an autosomal recessive form was further supported strongly by the report by Gorlin et al. (1970) of a female with the full-blown syndrome and by their review of reported cases in females and of parental consanguinity and by Crump and Danks (1971) who reported a boy and girl in a family with hypohidrotic ectodermal dysplasia.
The undigested fat leads to foul-smelling, fatty feces that are difficult to flush away. [12] Constipation is also common. [30] At least 50% of people with pancreatic adenocarcinoma have diabetes at the time of diagnosis. [2] While long-standing diabetes is a known risk factor for pancreatic cancer (see Risk factors ), the cancer can itself cause diabetes, in which case recent onset of diabetes could be considered an early sign of the disease. [31] People over 50 who develop diabetes have eight times the usual risk of developing pancreatic adenocarcinoma within three years, after which the relative risk declines. [12] Other findings [ edit ] Trousseau's syndrome , in which blood clots form spontaneously in the portal blood vessels , the deep veins of the extremities, or the superficial veins anywhere on the body, may be associated with pancreatic cancer, and is found in about 10% of cases. [3] Clinical depression has been reported in association with pancreatic cancer in some 10–20% of cases, and can be a hindrance to optimal management. ... The risk declines slowly after smoking cessation , taking some 20 years to return to almost that of nonsmokers. [36] Obesity - a body mass index greater than 35 increases relative risk by about half. [12] [37] Family history – 5–10% of pancreatic cancer cases have an inherited component, where people have a family history of pancreatic cancer. [2] [38] The risk escalates greatly if more than one first-degree relative had the disease, and more modestly if they developed it before the age of 50. [4] Most of the genes involved have not been identified. [2] [39] Hereditary pancreatitis gives a greatly increased lifetime risk of pancreatic cancer of 30–40% to the age of 70. [3] Screening for early pancreatic cancer may be offered to individuals with hereditary pancreatitis on a research basis. [40] Some people may choose to have their pancreas surgically removed to prevent cancer from developing in the future. [3] Pancreatic cancer has been associated with these other rare hereditary syndromes: Peutz–Jeghers syndrome due to mutations in the STK11 tumor suppressor gene (very rare, but a very strong risk factor); dysplastic nevus syndrome (or familial atypical multiple mole and melanoma syndrome, FAMMM-PC) due to mutations in the CDKN2A tumor suppressor gene; autosomal recessive ataxia-telangiectasia and autosomal dominantly inherited mutations in the BRCA2 and PALB2 genes; hereditary non-polyposis colon cancer (Lynch syndrome); and familial adenomatous polyposis . PanNETs have been associated with multiple endocrine neoplasia type 1 (MEN1) and von Hippel Lindau syndromes. [2] [3] [4] Chronic pancreatitis appears to almost triple risk, and as with diabetes, new-onset pancreatitis may be a symptom of a tumor. [3] The risk of pancreatic cancer in individuals with familial pancreatitis is particularly high. [3] [39] Diabetes mellitus is a risk factor for pancreatic cancer and (as noted in the Signs and symptoms section) new-onset diabetes may also be an early sign of the disease. ... Instead, hereditary MEN1 gene mutations give rise to MEN1 syndrome , in which primary tumors occur in two or more endocrine glands . ... Ellison, who gave their names to Zollinger–Ellison syndrome , after postulating the existence of a gastrin-secreting pancreatic tumor in a report of two cases of unusually severe peptic ulcers published in 1955. [105] In 2010, the WHO recommended that PanNETs be referred to as "neuroendocrine" rather than "endocrine" tumors. [25] Small precancerous neoplasms for many pancreatic cancers are being detected at greatly increased rates by modern medical imaging.
Risk factors Factors that may increase your risk of pancreatic cancer include: Smoking Diabetes Chronic inflammation of the pancreas (pancreatitis) Family history of genetic syndromes that can increase cancer risk, including a BRCA2 gene mutation, Lynch syndrome and familial atypical mole-malignant melanoma (FAMMM) syndrome Family history of pancreatic cancer Obesity Older age, as most people are diagnosed after age 65 A large study demonstrated that the combination of smoking, long-standing diabetes and a poor diet increases the risk of pancreatic cancer beyond the risk of any one of these factors alone.
Clinical Features Brewer (1965) in the United States and Zurcher et al. (1965) in Holland described high erythrocyte adenosine triphosphate as a dominantly inherited trait. 'High red cell ATP syndrome' may be a heterogeneous category.
Prevention of Primary Manifestations With the exception of AVED, Refsum syndrome, CTX, and CoQ 10 deficiency, no specific treatments exist for hereditary ataxia.
An acquired total inability to stand and walk can be seen in true neurological diseases, including stroke , Parkinson's disease , damage to the cerebellum , Guillain–Barré syndrome , normal pressure hydrocephalus and many others.
Blocq's syndrome Trunk sway, path deviation, arm swing Anatomical terminology [ edit on Wikidata ] Blocq's disease was first considered by Paul Blocq (1860–1896), [1] who described this phenomenon as the loss of memory of specialized movements causing the inability to maintain an upright posture, despite normal function of the legs in the bed. ... Waddling: the gait is duck-like. Flannel Legs Syndrome (FLS): the sensation of walking on cotton or feathers Motor Bradykinesia (slowness of movement) starting from planning to initiation and execution of the movement. ... Most of the patients with blocq's syndrome suffer from hypokinetic gait disorder defined as slowness of movement due to the dysfunction of the circuitry controlled by the basal ganglia, frontal lobe and brainstem.
Abramovits-Ackerman W, Bustos T, Simosa-Leon V, Fernandez L, Ramella M (December 1992). "Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs".
These cases are classified as a sub-type of NORSE, called Febrile Infection-Related Epilepsy Syndrome (FIRES). A diagnosis of NORSE is suspected in people who develop SE that does not respond to typical treatment and that does not have an obvious cause.
New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.
Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.