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Keratosis pilaris atrophicans

Synonyms
?Keratosis pilaris atrophicans; Burnett Schwartz Berberian syndrome

Summary

Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015). [from OMIM]

Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: A2MR, APOER, APR, CD91, DDH3, IGFBP-3R, IGFBP3R, IGFBP3R1, KPA, LRP, LRP1A, TGFBR5, LRP1
    Summary: LDL receptor related protein 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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