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Related Experiment Video

Updated: May 31, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

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Published on: March 23, 2022

Do you know this syndrome?

Isabela Guimarães Ribeiro Baeta1, Ana Carolina Figueiredo Pereira, Antônio Carlos Martins Guedes

  • 1Dermatology Outpatient Department, Teaching Hospital of the Federal University of Minas Gerais (UFMG), Belo Horizonte, Minas Gerais, Brazil. lucianabpereira@terra.com.br

Anais Brasileiros De Dermatologia
|July 9, 2011
PubMed
Summary

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare skin disorder. It presents with palmoplantar keratoderma, sclerodactyly, linear hyperkeratotic plaques, and congenital ichthyosis.

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Area of Science:

  • Dermatology
  • Clinical Genetics

Background:

  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare autosomal recessive genodermatosis.
  • It is defined by a specific constellation of clinical features affecting the skin.

Observation:

  • The syndrome involves diffuse, transgressive palmoplantar keratoderma.
  • Sclerodactyly, linear hyperkeratotic plaques in flexural areas, and congenital ichthyosis are characteristic findings.
  • The patient described was otherwise physically and mentally healthy, with no anomalies of teeth, nails, hair, or mucous membranes.

Findings:

  • KLICK syndrome presents a unique combination of ichthyosis, keratoderma, and sclerodermatous changes.
  • The condition is characterized by distinct linear hyperkeratotic plaques and palmoplantar thickening.

Implications:

  • Early diagnosis and management are crucial for improving patient outcomes.
  • Treatment strategies include topical keratolytics and oral retinoids for symptom management.
  • Further research into the genetic basis and therapeutic options for KLICK syndrome is warranted.