1. Mendelian
  2. Rare Diseases
  3. PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS; PLACK

Peeling Skin-leukonychia-acral Punctate Keratoses-cheilitis-knuckle Pads Syndrome

Table of contents:

Genes related to Peeling Skin-leukonychia-acral Punctate Keratoses-cheilitis-knuckle Pads Syndrome

  • CAST

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Peeling Skin-leukonychia-acral Punctate Keratoses-cheilitis-knuckle Pads Syndrome

  • Hyperkeratosis
  • Erythema
  • Scarring
  • Papule
  • Palmoplantar keratoderma
  • Epidermal acanthosis
  • Scaling skin
  • Fragile skin
  • Oral leukoplakia
  • Onycholysis

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Peeling Skin-leukonychia-acral Punctate Keratoses-cheilitis-knuckle Pads Syndrome Is also known as plack syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Peeling Skin-leukonychia-acral Punctate Keratoses-cheilitis-knuckle Pads Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CAST.

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

CAST
Specificity
100 %
Genes
100 %
Peeling skin syndrome NGS panel.

By Connective Tissue Gene Tests (United States).

TGM5, CAST, CHST8, CDSN, CSTA, FLG2, SERPINB8
Specificity
15 %
Genes
100 %
Peeling skin syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

TGM5, CAST, CHST8, CDSN, CSTA, FLG2, SERPINB8
Specificity
15 %
Genes
100 %
Peeling skin syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

TGM5, CAST, CHST8, CDSN, CSTA, FLG2, SERPINB8
Specificity
15 %
Genes
100 %
CAST.

By Fulgent Genetics Fulgent Genetics (United States).

CAST
Specificity
100 %
Genes
100 %

You can get up to -3 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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