Palmoplantar Carcinoma, Multiple Self-healing; Mspc

Description

Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by Zhong et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Palmoplantar Carcinoma, Multiple Self-healing; Mspc

  • Neoplasm
  • Short neck
  • Long philtrum
  • Hyperkeratosis
  • Carcinoma
  • Papule
  • Nail dystrophy
  • Joint hypermobility
  • Palmoplantar keratoderma
  • Ectodermal dysplasia

And another 16 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

Palmoplantar Carcinoma, Multiple Self-healing; Mspc Is also known as corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly, cided, formerly.

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.


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Palmoplantar Carcinoma, Multiple Self-healing; Mspc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NLRP1.

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

NLRP1
Specificity
100 %
Genes
100 %
NLRP1. Complete sequencing.

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

NLRP1
Specificity
100 %
Genes
100 %
NLRP1.

By Fulgent Genetics Fulgent Genetics (United States).

NLRP1
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics (Finland).

TNFAIP3, TNFRSF1A, TREX1, ACP5, NLRP1, LPIN2, IL36RN, SAMHD1, NLRP3, NLRC4, CARD14, TRNT1, RNASEH2A, IFIH1, DDX58, ADAR, NLRP12, SLC29A3, RNASEH2C, OTULIN , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Vitiligo.

By Bioarray (Spain).

NLRP1
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

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Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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