histiocytosis-lymphadenopathy plus syndrome

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. Thi

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.

Signs and symptoms

• Hearing impairment
• Camptodactyly of finger
• Flexion contracture of finger
• Joint contracture of the 5th finger
• Histiocytosis
• Elevated erythrocyte sedimentation rate
• Gynecomastia
• Flexion contracture of toe
• Lymphadenopathy
• Hypertrichotic hyperpigmented patch

Also known as: Faisalabad histiocytosis; H syndrome; HJCD; PHID; Rosai–Dorfman disease