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Definition

A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome.

Acronym

HLAS

Synonyms

Cutaneous hyperpigmentation with hypertrichosis hepatosplenomegaly heart anomalies and hypogonadism with or without hearing loss
Faisalabad histiocytosis
Familial Rosai-Dorfman disease
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
H syndrome
PHID
Pigmented hypertrichosis with insulin-dependent diabetes mellitus
SHML
Sinus histiocytosis and massive lymphadenopathy

 
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