H syndrome: a genodermatosis characterised by hyperpigmented, and hypertrichotic skin
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Tarih
2019
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medcom Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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.
Açıklama
Anahtar Kelimeler
H Syndrome, Homozygous Mutation, Slc29a3
Kaynak
Hong Kong Journal of Dermatology & Venereology
WoS Q Değeri
Q4
Scopus Q Değeri
Q4
Cilt
27
Sayı
3
