Monilethrix, a rare inherited hair shaft disorder in siblings
نویسندگان
چکیده
منابع مشابه
A rare ophthalmologic disorder: Gyrate atrophy with sparse hair
Gyrate atrophy (GA) is a rare, progressive metabolic choroid and retinal degeneration that results from a deficiency of the pyridoxal phosphate-dependent mitochondrial matrix enzyme ornithine aminotransferase. Here, we report the case of a 40-yearold woman who presented with a gradual decline in visual acuity since puberty, along with a history of high myopia and cataract surgery. She was admit...
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We report on an 11 year-old boy with dyskeratosis congenita who presented with dystrophic nails, dysphagia, hyperpigmentation and oral leukoplakia. He had a brother who died 14 years earlier with similar presenting symptoms and aplastic anaemia. Genetic studies of our patient demonstrated the presence of a DKC1 mutation and confirmed our diagnosis. Further genetic screening revealed that his mo...
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The chorea-acanthocytosis syndrome (CHAC) is a rare disorder beginning in late adolescent or adult life in association with acanthocytosis, a normal lipid profile and characterized by progressive neurological disease. The inheritance is usually autosomal recessive, although apparent sporadic and autosomal dominant instances are also known. We report here a young man who presented with choreo-at...
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Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. It represents a disease spectrum with infantile systemic hyalinosis (ISH) being the severe form and juvenile hyaline fibromatosis (JHF) being the mild form. Dermatologic manifestations include thickened skin, perianal nodules, and fac...
متن کاملHair Shaft Abnormality in Children: a Narrative Review
Background Hair is an ectodermal structure, and its formation is regulated by master genes important in embryology. Hair shaft consists of three major regions: the medulla, cortex and cuticle. Hair shaft abnormality will divide structural hair abnormalities into two broad categories - those associated with increased hair fragility and those not associated with increased hair fragility. We condu...
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ژورنال
عنوان ژورنال: Indian Dermatology Online Journal
سال: 2014
ISSN: 2229-5178
DOI: 10.4103/2229-5178.137795