منابع مشابه
H Syndrome Masquerade as Rheumatologic Disease
Background H syndrome is an autosomal recessive genodermatosis with a low prevalence which is caused by a mutation in SLC29A3 gene. This disorder is characterized by sclerotic, hyperpigmented, hypertrichotic cutaneous plaques with systemic involvement including: hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycemia. Case Presentation Here we have pres...
متن کاملA young girl with H syndrome and coeliac disease
H syndrome is an autosomal recessive genodermatosis with reports dating back to the last decade. This syndrome is caused by mutations in the SCL29A3 gene. The clinical characteristics of this syndrome consist of dermatological manifestations, including hyperpigmented, hypertrichotic, and indurated patches and plaques. It affects various systems by causing heart anomalies, hepatosplenomegaly, hy...
متن کاملa child with h syndrome
introduction h syndrome (omim 612391) is an autosomal recessive disease with some features such as hyperpigmentation, hypertrichosis, heart anomalies, hepatosplenomegaly, hearing deficit, hypogonadism, short stature, flexion contracture of fingers and toes and hypertriglyceridemia. case presentation a 17-year-old boy with hyperpigmented, hypertrichotic and indurated seborrheic keratosis-like cu...
متن کاملOn the Finsler modules over H-algebras
In this paper, applying the concept of generalized A-valued norm on a right $H^*$-module and also the notion of ϕ-homomorphism of Finsler modules over $C^*$-algebras we first improve the definition of the Finsler module over $H^*$-algebra and then define ϕ-morphism of Finsler modules over $H^*$-algebras. Finally we present some results concerning these new ones.
متن کاملThe histopathology and phenotypic variability in H syndrome
Skin biopsy may be helpful in the diagnosis of H syndrome. A triad of dermal fibrosis, lymphocytic aggregates, and numerous CD68+, CD163+, S100-positive, and CD1a-negative dermal histiocytes is characteristic.
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ژورنال
عنوان ژورنال: Indian Journal of Paediatric Dermatology
سال: 2015
ISSN: 2319-7250
DOI: 10.4103/2319-7250.152135