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Kindler syndrome with severe mucosal involvement in childhood

C V Krishna1, N V Parmar, C Has

  • 1Department of Dermatology, Venereology and Leprology, Pondicherry Institute of Medical Sciences, Puducherry, India.

Clinical and Experimental Dermatology
|March 19, 2014
PubMed

Insights

Kindler syndrome (KS) is a rare genetic skin disorder. This case highlights how environmental factors may influence the diverse clinical features of KS, even in patients with identical FERMT1 mutations.

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Kindler syndrome (KS) is an inherited skin disorder caused by mutations in the FERMT1 gene.
  • KS presents with symptoms including skin blistering, photosensitivity, and poikiloderma.

Observation:

  • A case of KS in a 7-year-old Indian girl with severe oral and genitourinary mucosal involvement is presented.
  • Genetic analysis revealed a homozygous FERMT1 mutation (c.862C>T, p.R288*) in the patient.

Findings:

  • The patient exhibited severe mucosal manifestations, indicating significant clinical variability in KS.
  • The FERMT1 mutation identified is associated with the characteristic symptoms of Kindler syndrome.

Implications:

  • This case underscores the significant inter-individual variability in KS clinical presentation, even within families or with identical mutations.
  • Environmental factors likely play a crucial role in modulating the phenotype of Kindler syndrome.

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