| Synonyms: |
cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss,
Faisalabad histiocytosis,
familial Rosai-Dorfman disease,
H syndrome,
histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness,
histiocytosis with joint contractures and sensorineural deafness,
HJCD,
PHID,
pigmented hypertrichosis with insulin-dependent diabetes mellitus,
Rosai–Dorfman disease,
SHML,
sinus histiocytosis and massive lymphadenopathy
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| Definition: |
A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. |