H syndrome: a genodermatosis characterised by hyperpigmented, and hypertrichotic skin

An I., Durmaz C. D., ILGIN RUHİ H., Ertop P., Ozturk M., Sula B., ...Daha Fazla

HONG KONG JOURNAL OF DERMATOLOGY & VENEREOLOGY, cilt.27, sa.3, ss.137-140, 2019 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 3
  • Basım Tarihi: 2019
  • Dergi Adı: HONG KONG JOURNAL OF DERMATOLOGY & VENEREOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.137-140
  • Anahtar Kelimeler: H syndrome, Homozygous mutation, SLC29A3, MUTATION
  • Hacettepe Üniversitesi Adresli: Hayır

Özet

H syndrome is an autosomal recessive genodermatosis caused by SLC29A3 gene mutation. An important feature of the H syndrome is the hyperpigmented patchs and plaques, usually accompanied by hypertrichosis, seen in the inner thigh. Cardiac anomalies, hepatosplenomegaly, sensorineural hearing loss, short stature, hallux valgus and hypergonadotropic hypogonadism are other common findings of the syndrome. Herein, we report a case of H syndrome with hyperpigmented patches and plaques accompanied by hypertrichosis in inner thighs and had homozygous c.1339G > A (p.Glu447Lys) mutation in exon 6 of the SLC29A3 gene.