" /> Histiocytosis-lymphadenopathy plus syndrome - CISMeF





Preferred Label : Histiocytosis-lymphadenopathy plus syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Histiocytosis with joint contractures and sensorineural deafness; SHML; Sinus histiocytosis and massive lymphadenopathy; PHID; H syndrome; Faisalabad histiocytosis; Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss; HJCD; Histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness; Pigmented hypertrichosis with insulin-dependent diabetes mellitus; Rosai-dorfman disease, familial;

Description : The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously 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 described an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 29 (nucleoside transporter), member 3 gene (SLC29A3, 612373.0001);

Laboratory abnormalities : Elevated inflammatory markers;

Prefixed ID : #602782;

Détails


Vous pouvez consulter :


Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.