Jornal de Pesquisa em Dermatologia Clínica e Experimental
Acesso livre

Abstrato

H Syndrome: when Cutaneous Signs Provide a Clue to a Multisystemic Genetic Disorder

Ahmed Ahmed Touni*, Sherif Shoukry Awad

H syndrome, a rare genetic disorder, is inherited in an autosomal recessive manner. SLC29A3 gene mutation represents the underlying etiology of this syndrome which manifests with various cutaneous and extracutaneous features including hyperpigmentation, sclerosis, hypertrichosis. hyperglycemia, hearing loss, hypogonadism, cardiac anomalies and skeletal deformities.