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P50 Sensory Gating in Infants
12:55

P50 Sensory Gating in Infants

Published on: December 26, 2013

Kindler syndrome.

Joey E Lai-Cheong1, John A McGrath

  • 1Division of Genetics and Molecular Medicine, St John's Institute of Dermatology, King's College London, Floor 9 Tower Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.

Dermatologic Clinics
|December 1, 2009
PubMed
Summary
This summary is machine-generated.

Kindler syndrome is a rare genodermatosis caused by FERMT1 gene mutations, leading to skin blistering and inflammation. This review covers its clinicopathologic features, molecular basis, and management strategies for epidermolysis bullosa.

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Last Updated: Jun 18, 2026

P50 Sensory Gating in Infants
12:55

P50 Sensory Gating in Infants

Published on: December 26, 2013

Area of Science:

  • Genetics and Dermatology
  • Molecular Biology
  • Cell Biology

Background:

  • Kindler syndrome is an autosomal recessive genodermatosis.
  • It presents with poikiloderma, skin blistering, mucosal inflammation, and photosensitivity.
  • It is classified as a subtype of epidermolysis bullosa (EB).

Purpose of the Study:

  • To review the clinicopathologic and molecular features of Kindler syndrome.
  • To discuss current patient management strategies.
  • To highlight the unique aspects of Kindler syndrome within the EB spectrum.

Main Methods:

  • Literature review of clinicopathologic and molecular data.
  • Analysis of FERMT1 gene mutations and their functional consequences.
  • Comparison with other forms of epidermolysis bullosa.

Main Results:

  • Kindler syndrome results from loss-of-function mutations in the FERMT1 gene.
  • It is characterized by impaired actin cytoskeleton-extracellular matrix interactions.
  • Blister formation occurs variably at or near the dermal-epidermal junction.

Conclusions:

  • Understanding the molecular basis of Kindler syndrome is crucial for diagnosis and management.
  • Management requires a multidisciplinary approach, addressing skin fragility, inflammation, and photosensitivity.
  • Further research into FERMT1 function may reveal novel therapeutic targets.