Palmoplantar Keratoderma, Punctate Type Ia; Ppkp1a

Description

Punctate palmoplantar keratoderma type I, also called keratosis punctate palmoplantaris type Buschke-Fisher-Brauer, is a rare autosomal dominant hereditary skin disease characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. There have been reports of an association between PPKP and the development of early- and late-onset malignancies, including squamous cell carcinoma (summary by Giehl et al., 2012).Another form of PPKP type I has been mapped to chromosome 8q24 (PPKP1B ).Other forms of punctate palmoplantar keratoderma include a porokeratotic type (PPKP2 ) and focal acrohyperkeratosis (PPKP3 ).For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Palmoplantar Keratoderma, Punctate Type Ia; Ppkp1a

  • Pica
  • Neoplasm
  • Pain
  • Tics
  • Dilatation
  • Depressivity
  • Hyperkeratosis
  • Carcinoma
  • Ranula
  • Palmoplantar keratoderma
And another 8 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Palmoplantar Keratoderma, Punctate Type Ia; Ppkp1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AAGAB.

By Institute for Human Genetics University Clinic Freiburg in Germany.

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By Centogene AG - the Rare Disease Company in Germany.

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

By CeGaT GmbH in Germany.

ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
AAGAB.

By Fulgent Genetics Fulgent Genetics in United States.

AAGAB
Specificity
100 %
Genes
100 %
Pachyonychia Congenita Panel.

By Blueprint Genetics in Finland.

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

By Blueprint Genetics in Finland.

DSP, GJB2, GJB6, MBTPS2, CTSC, JUP, PKP1, KRT14, ENPP1, KRT9, KRT16, KRT6A, KRT1, TRPV3, SLURP1, LOR, DSG1, AAGAB, KRT6C, KRT17 , (...)

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

Alternate names

Palmoplantar Keratoderma, Punctate Type Ia; Ppkp1a Is also known as palmoplantar keratoderma, punctate type i;ppkp1, kppp1, keratodermia palmoplantaris papulosa, buschke-fischer-brauer type, keratosis palmoplantaris papulosa.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more