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GTR Home > Conditions/Phenotypes > Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome

Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome

Synonyms
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic skin disease characterized by generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent. [from SNOMEDCT_US]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BS-17, MIR583HG, PLACK, CAST
    Summary: calpastatin

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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