Naegeli-Franceschetti-Jadassohn sendromu

Kalıtsal - AD

Dişler sarı renkli

Yaygın çürükler

Erken diş kayıpları

Deride retiküler pigmentasyon (ağız ve göz çevresi, boyun, gövde)

Terleme az

Parmakizleri yok

Palmoplantar keratoderma

Kırılgan tırnaklar

Paşparmak tırnakları agenezi

Sıcağa dayanıksızlık

Franceschetti A, Jadassohn W. A propos de l'incontinentia pigmenti, delimitation de deux syndromes differents figurant sous le meme terme. Dermatologica, 108: 1-28, 1954
Whittock NV, Coleman CM, McLean WHI, et al. The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. Journal of Investigative Dermatology, 115: 694-698, 2000
Sprecher E, Itin P, Whittock NV, et al. Refined mapping of Naegeli-Franceschetti-Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. Journal of Investigative Dermatology, 119: 692-698, 2002
Lugassy J, Itin P, Ishida-Yamamoto A, et al. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. American Journal of Human Genetics, 79: 724-730, 2006