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| Clinical and pathological features of pachyonychia congenita |
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| Author(s): Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJD, McLean WHI, Lunny DP, Milstone LM, van Steensel AM, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB |
| Source: JOURNAL OF INVESTIGATIVE DERMATOLOGY SYMPOSIUM PROCEEDINGS Volume: 10 Issue: 1 Pages: 3-17 Published: OCT 2005 |
| Times Cited: 33 References: 50 |
| Abstract: Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. Pathogenic mutations in keratins K6a or K16 are associated with the PC-1 phenotype whereas K6b and K17 mutations are associated with the PC-2 phenotype. Analysis of clinical, pathological, and genetic data from the literature and two research registries reveal that > 97% of PC cases exhibit fingernail and toenail thickening, and painful plantar keratoderma. Prospective evaluation of 57 PC patients from 41 families revealed variable clinical findings: hyperhidrosis (79%), oral leukokeratosis (75%), follicular keratosis (65%), palmar keratoderma (60%), cutaneous cysts (35%), hoarseness or laryngeal involvement (16%), coarse or twisted hair (26%), early primary tooth loss (14%), and presence of natal or prenatal teeth (2%). Stratification of these data by keratin mutation confirmed the increased incidence of cyst formation and natal teeth among PC-2 patients, although cysts were more commonly seen in PC-1 than previously reported (25%-33%). Previously unreported clinical features of PC include development of painful oral and nipple lesions during breastfeeding, copious production of waxy material in ears, and inability to walk without an ambulatory aid (50%). Possible pathogenic mechanisms are discussed with respect to the clinicopathologic and genetic correlations observed. |
| Document Type: Proceedings Paper |
| Language: English |
| Reprint Address: Leachman, SA (reprint author), Univ Utah, Hlth Sci Ctr, HCI, Dept Dermatol, 2000 Circle Hope, Salt Lake City, UT 84112 USA |
Addresses:
1. Univ Utah, Hlth Sci Ctr, HCI, Dept Dermatol, Salt Lake City, UT 84112 USA
2. TransDerm Inc, Santa Cruz, CA USA
3. Univ Washington, Dept Med Dermatol, Seattle, WA 98195 USA
4. Ninewells Med Sch, Div Pathol & Neurosci, Human Genet Unit, Epithelial Genet Grp, Dundee, Scotland
5. Univ Dundee, Sch Life Sci, Div Cell & Dev Biol, Canc Res UK Cell Struct Res Grp, Dundee DD1 4HN, Scotland
6. Yale Univ, Sch Med, Dept Dermatol, New Haven, CT 06520 USA
7. Univ Hosp Maastricht, Dept Dermatol, Maastricht, Netherlands
8. So Gen Hosp, Dept Dermatol, Glasgow G51 4TF, Lanark Scotland
9. Barts & London Sch Med & Dent, Inst Cell & Mol Sci, Ctr Cutaneous Res, London, England
10. Columbia Univ, Dept Dermatol, New York, NY 10027 USA
11. Univ Ljubljana, Dept Dermatol, Ljubljana, Slovenia |
| Publisher: BLACKWELL PUBLISHING, 9600 GARSINGTON RD, OXFORD OX4 2DQ, OXON, ENGLAND |
| Subject Category: Dermatology |
| IDS Number: 973SU |
| ISSN: 1087-0024 |
| DOI: 10.1111/j.1087-0024.2005.10202.x |
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