J

 

Jadassohn-Lewandowsky sendromu (pachyonychia congenita; Jackson-Lawler 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