Pachyonychia Congenita 3; Pc3

Description

Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011).For a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}. Historical Classification of Pachyonychia CongenitaGorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (OMIM ) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Pachyonychia Congenita 3; Pc3

  • Hyperhidrosis
  • Hyperkeratosis
  • Nail dystrophy
  • Palmoplantar keratoderma
  • Epidermal acanthosis
  • Corneal dystrophy
  • Natal tooth
  • Hamartoma
  • Gingivitis
  • Furrowed tongue

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

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Pachyonychia Congenita 3; Pc3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRT6A.

By Institute for Human Genetics University Clinic Freiburg (Germany).

KRT6A
Specificity
100 %
Genes
100 %
KRT6A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT6A
Specificity
100 %
Genes
100 %
Pachyonychia congenita (sequence analysis of KRT6A gene).

By CGC Genetics (Portugal).

KRT6A
Specificity
100 %
Genes
100 %
Pachyonychia congenita type 1.

By Centogene AG - the Rare Disease Company (Germany).

KRT6A
Specificity
100 %
Genes
100 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH (Germany).

SLC27A4, SNAP29, ST14, STS, TAT, TGM1, TGM5, VPS33B, ATP2C1, NSDHL, ALOXE3, WNT10A, SERPINB7, ELOVL4, ABCA12, MBTPS2, SPINK5, CARD14, CDSN, TRPV3 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
KRT6A.

By Fulgent Genetics Fulgent Genetics (United States).

KRT6A
Specificity
100 %
Genes
100 %
Pachyonychia Congenita Panel.

By Blueprint Genetics (Finland).

TRPV3, KRT6C, AAGAB, KRT16, KRT17, KRT6A, KRT6B
Specificity
15 %
Genes
100 %
Palmoplantar Keratoderma Panel.

By Blueprint Genetics (Finland).

WNT10A, SERPINB7, MBTPS2, TRPV3, SLURP1, KRT6C, CTSC, AAGAB, DSG1, DSP, ENPP1, GJB2, GJB4, GJB6, JUP, AQP5, KRT1, KRT14, KRT16, KRT17 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %

We have 6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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