Open AccessH syndrome - A case report
Author(s) -
Patrick Yesudian,
KN Sarveswari,
K J Karrunya,
Kuruvilla Thomas
Publication year - 2019
Publication title -
indian dermatology online journal
Language(s) - Uncategorized
Resource type - Journals
eISSN - 2249-5673
pISSN - 2229-5178
DOI - 10.4103/idoj.idoj_187_18
Subject(s) - medicine , genodermatosis , hypertrichosis , dermatology , hyperpigmentation , consanguinity , population , pediatrics , genetics , gene , environmental health , biology
This case report describes a case of H syndrome with characteristic cutaneous hyperpigmentation, hypertrichosis, sclerodermatous thickening, and multisystem involvement such as hearing loss and heart anomaly in an Indian patient. There are around 100 cases of this rare, autosomal recessive genodermatosis reported in the literature, out of which 10 cases are from the Indian population. The aim of this paper is to increase awareness about this novel inherited form of histiocytosis and insist on the role of dermatologists to identify such patients in our population where consanguinity is prevalent.