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Article

H syndrome: A review of treatment options and a hypothesis of phenotypic variability.

Dermatologic therapy - 1 Sept 2021

Nofal Hagar, AlAkad Rania, Nofal Ahmad, Rabie Eman, Chaikul Thithiwat, Chiu Frank Po-Chao, Pramanik Rashida, Alabdulkareem Ahmad, Onoufriadis Alexandros

Abstract excerpt

H syndrome is a rare autosomal recessive disorder with clinical features comprising: hyperpigmentation, hypertrichosis, hearing loss, heart anomalies, low height, hypogonadism and hepatosplenomegaly. H syndrome results from loss-of-function mutations in SLC29A3 which leads to abnormal proliferation and function of histiocytes. Herein, we discuss the considerable phenotypic heterogeneity detected in a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34351669
DOI: 10.1111/dth.15082

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H syndrome: A review of treatment options and a hypothesis of phenotypic variability.PMID 34351669Read ↗

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H syndrome with a novel homozygous SLC29A3 mutation in two sisters.Semantic proximity Read ↗

The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.Semantic proximity Read ↗

Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report.Semantic proximity Read ↗

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.Semantic proximity Read ↗

Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H Syndrome: The first case report from SyriaSemantic proximity Read ↗

An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.Semantic proximity Read ↗

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