نتایج جستجو برای: trichorrhexis invaginata
تعداد نتایج: 61 فیلتر نتایج به سال:
Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000-400,000 live births in Western Europe. Ethnic origin does not appear to be assoc...
RATIONALE Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She...
We report the first case of Menkes' disease in Korea, occurring in a 1 1/2 year old boy with characteristic clinical, arteriographic and pathologic features. Postmortem examination revealed widespread neuronal destruction and abnormally tortuous and elongated large arteries including cerebral, visceral and limb vessels. Microscopically, many of the hairs formed were twisted (pili torti), of var...
Unbiased genetic diagnosis has increasingly associated seemingly unrelated somatic and immunological phenotypes. We report a male infant who presented within the first year of life with physical growth impairment, feeding difficulties, hyperemesis without diarrhea, and abnormal hair findings suggestive of trichorrhexis nodosa. With advancing age, moderate global developmental delay, susceptibil...
We describe the case of a four-year-old girl admitted to our hospital to attend a specific oral tolerance induction (SOTI) to wheat. She was born at term, without perinatal problems. On the second day of life, she developed a perioral dermatitis that worsened during the following days into a scaling eczema localised on face, neck and skin folds. Because of this her diet was changed from cow’s m...
G enetic conditions affecting hair structure or the hair growth cycle may be isolated or they may occur as part of complex syndromes with associated abnormalities of other ectodermal appendages. Defective hair structure caused by mutations in key hair structural proteins can result in severe alopecia. The best characterised conditions at the molecular level in this category are monilethrix (MIM...
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