Abstract
H syndrome is an autosomal recessive syndrome affecting multiple organ systems with a characteristic skin lesion. It occurs because of a mutation in the SLC29A3 gene.1 The first cases of this extremely rare syndrome were reported in consanguineous families of Arab and Bulgarian descent and described in 2008 by Molho-Pessach et al.2, 3 Approximately 100 cases of H syndrome have been reported worldwide.4 Currently, H syndrome is considered a novel form of histiocytosis.5 The hallmark of this syndrome is the presence of bilateral symmetrical hyperpigmented indurated patches with overlying hypertrichosis, mainly involving the medial aspects of the thighs. Other commonly observed features are sensory neural hearing loss, hypogonadism, heart anomalies, hepatosplenomegaly, insulin-dependent diabetes, short stature, and lymphadenopathy.6 Here we report a case of H syndrome, possibly with new phenotypes not described in previous studies.
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