H syndrome

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A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation hypertrichosis hepatosplenomegaly heart anomalies hearing loss hypogonadism low height and occasionally hyperglycemia/diabetes mellitus. Due to overlapping clinical features it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID) Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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H syndrome?

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Clinical Trials

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