H Syndrome: A Multifaceted Histiocytic Disorder with Hyperpigmentation and Hypertrichosis
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چکیده
منابع مشابه
A 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...
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This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Fig. 1. (A) At the time of the first visit, the primary complaints were hyperpigmentation a...
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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...
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Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder that typically affects children. The clinical presentation of this disease is characterized by single or, rarely, multiple yellow and brown skin nodules, most often found on the face and neck. Internal organ involvement has been sporadically observed in JXG and is associated with an increased risk of serious complications. We report ...
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ژورنال
عنوان ژورنال: Acta Dermato Venereologica
سال: 2015
ISSN: 0001-5555
DOI: 10.2340/00015555-2145