जर्नल ऑफ़ क्लिनिकल एंड एक्सपेरिमेंटल डर्मेटोलॉजी रिसर्च
खुला एक्सेस

अमूर्त

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.