H Syndrome: When Cutaneous Signs Provide a Clue to a Multisystemic Genetic Disorder
H syndrome, a rare genetic disorder, is inherited in an autosomal recessive manner. SLC29A3 gene mutation represents the underlying etiology of this syndrome which manifests with various cutaneous and extracutaneous features including hyperpigmentation, sclerosis, hypertrichosis. hyperglycemia, hearing loss, hypogonadism, cardiac anomalies and skeletal deformities.
H syndrome is an autosomal recessive genodermatosis which is recently classified within the context of histiocytosis. The name had been suggested due to the fact that most of its features begin with letter “H” as hyperpigmentation, hypertrichosis, hearing loss, hyperglycemia, hypogonadism and hepatosplenomegaly.
A 17-year old female patient referred to our out-patient clinic (Minia university Hospital, Minia, Egypt) complaining from progressive induration, hyperpigmentation and hypertrichosis over her inner sides of both thighs and legs since she was eleven, she was also complaining from irregular menses and hearing difficulties and there was a positive history of consanguinity. Examination Her skin examination revealed bilateral, symmetrical, ill-defined, slightly warm and sclerosed lesions over the medial sides of both thighs and legs. Lesions were associated with evident hypertrichosis.
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Journal of Clinical & Experimental Dermatology Research