Clinical and pathological features of pachyonychia congenita.

Sancy Leachman, Roger L. Kaspar, Philip Fleckman, Scott R. Florell, Frances J D Smith, W. H Irwin McLean, Declan P. Lunny, Leonard M. Milstone, Maurice A M van Steensel, Colin S. Munro, Edel A. O'Toole, Julide T. Celebi, Aleksej Kansky, E. Birgitte Lane

Research output: Contribution to journalArticle

126 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)3-17
Number of pages15
JournalThe journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research.
Volume10
Issue number1
StatePublished - Oct 2005
Externally publishedYes

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Pachyonychia Congenita
Nails
Cysts
Keratins
Mutation
Natal Teeth
Tooth
Oral Leukoplakia
Hyperhidrosis
Phenotype
Keratosis
Tooth Loss
Hoarseness
Skin
Deciduous Tooth
Nipples
Mouth Mucosa
Larynx
Breast Feeding
Hair

ASJC Scopus subject areas

  • Dermatology

Cite this

Clinical and pathological features of pachyonychia congenita. / Leachman, Sancy; Kaspar, Roger L.; Fleckman, Philip; Florell, Scott R.; Smith, Frances J D; McLean, W. H Irwin; Lunny, Declan P.; Milstone, Leonard M.; van Steensel, Maurice A M; Munro, Colin S.; O'Toole, Edel A.; Celebi, Julide T.; Kansky, Aleksej; Lane, E. Birgitte.

In: The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research., Vol. 10, No. 1, 10.2005, p. 3-17.

Research output: Contribution to journalArticle

Leachman, S, Kaspar, RL, Fleckman, P, Florell, SR, Smith, FJD, McLean, WHI, Lunny, DP, Milstone, LM, van Steensel, MAM, Munro, CS, O'Toole, EA, Celebi, JT, Kansky, A & Lane, EB 2005, 'Clinical and pathological features of pachyonychia congenita.', The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research., vol. 10, no. 1, pp. 3-17.
Leachman, Sancy ; Kaspar, Roger L. ; Fleckman, Philip ; Florell, Scott R. ; Smith, Frances J D ; McLean, W. H Irwin ; Lunny, Declan P. ; Milstone, Leonard M. ; van Steensel, Maurice A M ; Munro, Colin S. ; O'Toole, Edel A. ; Celebi, Julide T. ; Kansky, Aleksej ; Lane, E. Birgitte. / Clinical and pathological features of pachyonychia congenita. In: The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research. 2005 ; Vol. 10, No. 1. pp. 3-17.
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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.",
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