E

 

ECTD10B sendromu (Ectodermal dysplasia 10B; hypohydrotic/hair/tooth tipi)

Kalıtsal - AR

Alın belirgin

Periorbital kırışıklıklar

Periorbital hiperpigmentasyon

Kaşlar ve kirpikler seyrek

Burun sırtı düz

Dudaklar kalın

Mikrodonti

Hipodonti

Anodonti

Terleme azlığı/yokluğu

Kıllar azalmış (hipotrikoz)

Sıcak ortama dayanıksızlık

 

  • Shimomura Y, Sato N, Miyashita A, et al. A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. Journal of Investigative Dermatology, 123: 649-655, 2004

  • Naeem M, Muhammad D, Ahmad W. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. British Journal of Dermatology, 153: 46-50, 2005

  • 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