Jadassohn-Lewandowsky sendromu

Kalıtsal - AD

Doğumda tırnakların kalın, opak ve sarı-kahverengimsi (pachynonychia congenita)

Avuçiçinde ve tabanda bül/hiperkeratoz

Aşırı terleme

Ağızda lökokeratoz alanları (yanak, dil, dişeti)-çocuklukta

Dilde atrofi

Dilde çatlaklar (fissürler)

Natal dişler

Ses kalın

Deride hiperkeratotik foliküler papüller

Kıllı deride foliküler keratoz

Kıl kökü kistleri (keratinle dolu mikrokistler)

Leachman SA, Kaspar RL, Fleckman P, et al. Clinical and pathological features of pachyonychia congenita. Journal of Investigative Dermatology Symposium Proceedings, 10:3–17, 2005
Pradeep AR, Nagaraja C. Pachyonychia congenita with unusual dental findings: A case report. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology & Endodontology, 104:89–93,2007
Eliason MJ, Leachman SA, Feng BJ, et al. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. Journal of the American Academy of Dermatology, 67(4):680-686, 2012
Wilson NJ, O'Toole E, Milstone LM, et al. The molecular genetic analysis of the expanding pachyonychia congenita case collection. British Journal of Dermatology, 171:343–355, 2014
O'Toole EA, Kaspar RL, Sprecher E, et al. Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium Meeting. British Journal of Dermatology, 171(5):974-977, 2014
Shah S, Boen M, Kenner-Bell B, et al. Pachyonychia congenita in pediatric patients: natural history, features, and impact. JAMA Dermatology, 150(2):146-153, 2014