keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
MONDO:0011169
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.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
Trial status
Trial phase
Study start year
Investigated drug interventions
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome (KLICK syndrome) is a rare cutaneous condition characterized by ichthyosis and keratoderma. It is an autosomal recessive disorder associated with a deletion in the transcription gene POMP, which codes proteasome maturation protein. This prevents the correct formation of filaggrin from profilaggrin. Sympotmatic treatment with keratolytics and retinoids is successful, but if treatment is stopped, symptoms recur.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.