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Article

New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C.

The British journal of dermatology - 1 Sept 2002

Van Steensel M A M, Van Geel M, Steijlen P M

Abstract excerpt

We report a mother and daughter with a syndrome of hypotrichosis, striate palmoplantar keratoderma, onychogryphosis, periodontitis, acro-osteolysis and psoriasis-like skin lesions. The syndrome resembles Papillon-Lefèvre syndrome (PLS), characterized by palmoplantar keratoderma, periodontitis and psoriasis-like skin lesions, and particularly Haim-Munk syndrome, an allelic variant of PLS with acro-osteolysis. Both...

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Source

Identifiers

PMID: 12207605
DOI: 10.1046/j.1365-2133.2002.04840.x

Genes

CTSC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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