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Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

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Disease definition

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma 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.

ORPHA:281201

Classification level: Disorder

Synonym(s):
  • KLICK syndrome

Prevalence: Unknown

Inheritance: Autosomal recessive

Age of onset: Infancy, Neonatal

ICD-10: Q82.8

ICD-11: EC20.0Y

OMIM: 601952

UMLS: C1866029

MeSH: C566600

A summary on this disease is available in Français, Español, Deutsch, Italiano, Nederlands
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

Guidelines
Emergency guidelines
Français (2018.pdf) - Orphanet Urgences
Clinical practice guidelines
Français (2021) - PNDS Logo FSMR
English (2018) - Br J Dermatol Logo ERN
English (2019) - Br J Dermatol Logo ERN
Disease review articles
Clinical genetics review
English (2013.pdf) - Eur J Hum Genet
Logo PROQOLID
Patient-Centered Outcome Measures (PCOMs)
Access questionnaires assessing quality of life in this disease (English)
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.