Wimmershoff, M. B. and Stolz, Wilhelm and Schiffner, R. and Landthaler, Michael (1999) Pachyonychia congenita type I (Jadassohn-Lewandowsky). KLINISCHE PADIATRIE, 211 (3). pp. 179-183. ISSN 0300-8630,
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Background: Pachyonychia congenita is considered to be a genodermatosis of autosomal inheritance. It is characterized by nail hypertrophy, shortly present after birth. Later on follicular keratosis of the extremities and hyperkeratosis of palms and soles can be found. History and clinical findings: We report a child with pachyonychia congenita type-I (Jadassohn-Lewandowsky). Shortly after birth nail hypertrophy of all finger- and toenails and leukoplakia of the palate and tongue were found. At the age of 3 years follicular keratosis of the extremities and plantar bullae could be found additionally. Conclusion: The underlying disturbance is a mutation within genes far keratin 6, 16 and 17 which leads to formation of abnormal tonofilaments. In adult patients retinoids can be used for symptomatic treatment especially of the palmoplantar keratosis.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | NAILS; pachyonychia congenita; nail hypertrophy; children |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Dermatologie und Venerologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 25 Oct 2022 10:37 |
| Last Modified: | 25 Oct 2022 10:37 |
| URI: | https://pred.uni-regensburg.de/id/eprint/48294 |
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