Hager Jaouadi Author

Special Issue Article Open Access

H syndrome: When skin hyperpigmentation is a sign of a multifaceted rare genetic disorder

Author(s):

Hager Jaouadi

Introduction- H syndrome is an autosomal recessive disorder characterized by hyperpigmented, hypertrichotic, indurated cutaneous patches with multisystemic manifestations including hepatosplenomegaly, hearing loss, heart anomalies and hypogonadism. H syndrome is a monogenic genodermatosis resulting in different clinical presentations ranging from mild to very severe phenotype. Thus, a highly variable expressivity is noted for this syndrome and the diagnosis suspicion is based mainly on the localization of the hyperpigmentation on the inner thighs. In fact, the hyperpigmentation can be extended over the entire surface of the lower limbs but constantly sparing the knees. H syndrome is caused by mutations in the SLC29A3 gene.
Objective- The aim of our work was to conduct a clinical ... view more»

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