Punctate Palmoplantar Keratoderma Type 1

Description

Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..

Clinical Features

Top most frequent phenotypes and symptoms related to Punctate Palmoplantar Keratoderma Type 1

  • Neoplasm
  • Pain
  • Dilatation
  • Depressivity
  • Hyperkeratosis
  • Carcinoma
  • Papule
  • Palmoplantar keratoderma
  • Abnormality of the skin
  • Epidermal acanthosis

And another 13 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

Punctate Palmoplantar Keratoderma Type 1 Is also known as palmoplantar keratoderma, punctate type i, ppkp1, keratodermia palmoplantaris papulosa, buschke-fischer-brauer type, buschke-fischer-brauer syndrome, keratosis palmoplantaris papulosa, kppp1.

Researches and researchers

Doctors, researchs, and experts related to Punctate Palmoplantar Keratoderma Type 1 extracted from public data.

Punctate Palmoplantar Keratoderma Type 1 Experts map



Current Researchs and researchers

  • KÖLN — Dr Hans Christian HENNIES

    Responsible for diagnostic tests - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Cologne Center for Genomics (CCG) der Universität zu Köln
    • Research area/topic::

      Palmoplantar keratodermas: Identification of candidate genes, mutation analysis and expression profiling



Mendelian

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Punctate Palmoplantar Keratoderma Type 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
COL14A1.

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

COL14A1
Specificity
100 %
Genes
50 %
COL14A1.

By Fulgent Genetics Fulgent Genetics (United States).

COL14A1
Specificity
100 %
Genes
50 %
AAGAB.

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

AAGAB
Specificity
100 %
Genes
50 %
Punctate palmoplantar keratoderma type I (sequence analysis of AAGAB gene).

By CGC Genetics (Portugal).

AAGAB
Specificity
100 %
Genes
50 %
Punctate palmoplantar keratoderma type I (sequence analysis of AAGAB gene).

By CGC Genetics (Portugal).

AAGAB
Specificity
100 %
Genes
50 %
Keratoderma, palmoplantar, punctate type 1A.

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

AAGAB
Specificity
100 %
Genes
50 %
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
50 %
AAGAB.

By Fulgent Genetics Fulgent Genetics (United States).

AAGAB
Specificity
100 %
Genes
50 %

We have 2 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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