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keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.
Uniprot Description A keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer.
Mondo Term and Equivalent IDs
MONDO:0011169:  keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
MESH:C566600: 
Orphanet:281201: 
SCTID:763775000: 
UMLS:C1866029: