Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita

Paller, A. S.

doi:10.1001/archderm.127.5.701

Cited by 25 publications

(31 citation statements)

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“…Clinical observation of some patients with the onset of the characteristic nail changes of PC during the second and third decades of life has been reported in the literature, which are designated ''PC tarda'' (Paller et al, 1991). To our knowledge, keratin mutation detected in delayed onset PC has been reported in only one case of PC-1, which occurred at the central 2B domain of K16 (Connors et al, 2001).…”

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confidence: 99%

A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2

Xiao

Yan

Ren

et al. 2004

Journal of Investigative Dermatology

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Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. We report a large Chinese pedigree of typical delayed-onset PC-2 that includes 19 affected members. Direct sequencing of PCR products revealed a novel heterozygous 325A-->G mutation in the affected members. This mutation predicts the substitution of asparagine by aspartic acid in codon 109 (N109D) located in the second half of the keratin 17 1A domain, where similar mutation in keratin 5 is associated with the mild Weber-Cockayne form of epidermolysis bullosa simplex.

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confidence: 99%

A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2

Xiao

Yan

Ren

et al. 2004

Journal of Investigative Dermatology

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“…Because of its rarity, the condition has been difficult to characterize or investigate, and no controlled prospective clinical trials have been published using this patient population. Our understanding of the clinical and pathological features of the disorder has been based upon case reports, a few case series, and some excellent reviews that have attempted to unify the case report literature (Kumer, 1935;Moldenhauer and Ernst, 1968;Schonfeld, 1980;Franzot et al, 1981;Stieglitz and Centerwall, 1983;Sivasundram et al, 1985;Feinstein et al, 1988;Su et al, 1990;Paller et al, 1991;Dahl et al, 1995). A comprehensive bibliography of PC, complete with translations of non-English articles, is available at http://www.pachyonychia.org.…”

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confidence: 99%

Clinical and Pathological Features of Pachyonychia Congenita

Leachman

Kaspar²,

Fleckman

et al. 2005

Journal of Investigative Dermatology Symposium Proceedings

184

229

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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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“…The majority of dominant keratin mutations are clustered to the helix boundary motifs of these proteins. PC is a group of inherited disorders of the epidermis and its appendages which can be divided into two main clinical subtypes, PC-1 (OMIM 167200) and PC-2 (OMIM 167210; Munro, 2001), with other rare variants, including PC-tarda (Paller et al, 1991). The clinical details of these disorders are described in detail by Leachman et al (this issue).…”

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confidence: 99%

The Genetic Basis of Pachyonychia Congenita

Smith

Liao

Cassidy

et al. 2005

Journal of Investigative Dermatology Symposium Proceedings

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In 1994, the molecular basis of pachyonychia congenita (PC) was elucidated. Four keratin genes are associated with the major subtypes of PC: K6a or K16 defects cause PC-1; and mutations in K6b or K17 cause PC-2. Mutations in keratins, the epithelial-specific intermediate filament proteins, result in aberrant cytoskeletal networks which present clinically as a variety of epithelial fragility phenotypes. To date, mutations in 20 keratin genes are associated with human disorders. Here, we review the genetic basis of PC and report 30 new PC mutations. Of these, 25 mutations were found in PC-1 families and five mutations were identified in PC-2 kindreds. All mutations identified were heterozygous amino acid substitutions or small in-frame deletion mutations with the exception of an unusual mutation in a sporadic case of PC-1. The latter carried a 117 bp duplication resulting in a 39 amino acid insertion in the 2B domain of K6a. Also of note was mutation L388P in K17, which is the first genetic defect identified in the helix termination motif of this protein. Understanding the genetic basis of these disorders allows better counseling for patients and paves the way for therapy development.

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Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita

Cited by 25 publications

References 0 publications

A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2

A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2

Clinical and Pathological Features of Pachyonychia Congenita

The Genetic Basis of Pachyonychia Congenita

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