ECTD12 sendromu

Ectodermal dysplasia 12; hypohydrotic/hair/tooth/nail tipi

Kalıtsal - AD

Saçlar mat-cansız

Kaşlar yanlarda ince

Semer burun

Hipodonti

Oligodonti

Terleme azlığı

Hidradenitis suppurativa

Keratosis pilaris

Avuç çizgilerinde derinleşme

Subungual hiperkeratoz

Distrofik tırnaklar

 

  • Cluzeau C, Hadj-Rabia S, Jambou M, et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human Mutation, 32: 70-77, 2011

  • Shamseldin HE, Khalifa O, Binamer YM, et al. KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. Human Genetics, 136: 99-105, 2017