%0 Case Reports
%T Cases with the H syndrome presenting with skin and bone findings.
%A Kose H
%A Baskaya MD
%A Kilic SS
%J Australas J Dermatol
%V 65
%N 4
%D 2024 Jun 29
%M 38421823
%F 2.481
%R 10.1111/ajd.14235
%X <B>BACKGROUND: </B>The H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.<BR><B>METHODS: </B>A mutation in the coding of the human equilibrative nucleoside transporter 3 (hENT3) within the SLC29A3 gene on chromosome 10q22 leads to the manifestation of this disease. In this report, we present two cases of H syndrome.<BR><B>RESULTS: </B>The first patient exhibits hyperpigmentation, hypogonadism, Type 1 diabetes mellitus, arthritis and osteoporosis. The second patient experiences hyperpigmentation, hypertrichosis, osteopenia and hypogonadism.<BR><B>CONCLUSIONS: </B>Our objective is to broaden the clinical spectrum of H syndrome, highlighting the involvement of arthritis, hyperinflammation and low bone mineral density in individuals with this disorder.