Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome, known as KLICK syndrome, is a rare inherited skin condition marked by thickened, hardened skin, or keratoderma, and dry, fish-scale-like skin, or ichthyosis. It is inherited in an autosomal recessive pattern and caused by a deletion in the POMP gene, which encodes a protein needed for proteasome maturation; the resulting defect disrupts the normal processing of profilaggrin into filaggrin, a protein essential to the skin barrier. Treatment relies on keratolytic agents and retinoids to manage the thickened and scaly skin, but these provide only temporary relief, and symptoms return once treatment stops, so ongoing management rather than a cure is the current standard of care.
Facts
Classification
ICD-10 ChapterXII: Diseases of the Skin and Subcutaneous Tissue 1 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XIIQuote, List of chapters, Chapter XII
Diseases of the skin and subcutaneous tissue
View the Source 2. Wikidata: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
WikidataWikidata P279 (disease-category: non-communicable)Quote, Wikidata P279 (disease-category: non-communicable)
Subclass of: congenital ichthyosis
View the Source 3. Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome (Wikipedia)
lead sentence 2Quote, lead sentence 2
It is an autosomal recessive disorder associated with a deletion in the transcription gene POMP, which codes proteasome maturation protein.
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