జర్నల్ ఆఫ్ క్లినికల్ & ఎక్స్పెరిమెంటల్ డెర్మటాలజీ రీసెర్చ్
అందరికి ప్రవేశం

నైరూప్య

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.