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H syndrome: novel and recurrent mutations in SLC29A3
Author(s) -
Priya T.P.,
Philip N.,
MolhoPessach V.,
Busa T.,
Dalal A.,
Zlotogorski A.
Publication year - 2010
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2010.09653.x
Subject(s) - medicine , hypertrichosis , hepatosplenomegaly , hyperpigmentation , dermatology , dermis , short stature , fibrosis , pathology , anatomy , disease
The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous h yperpigmentation, h ypertrichosis, h epatosplenomegaly, h eart anomalies, h earing loss, h ypogonadism, short stature (low h eight), h yperglycaemia/diabetes mellitus, h allux valgus, and fixed flexion contractures of the toe and finger joints. 1,2 Histologically, there is an inflammatory infiltrate consisting mainly of histiocytes, later replaced by fibrosis of the deep dermis and subcutis. 3 In total, 31 patients have been reported in the literature with the clinical phenotype characteristic of this syndrome. 1–7