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Kindler's syndrome.

Y Shimamoto, S Inada, H Shimamoto

    Hiroshima Journal of Medical Sciences
    |March 1, 1989
    PubMed
    Summary
    This summary is machine-generated.

    A child with congenital poikiloderma experienced recurrent blistering. This case is diagnosed as Kindler syndrome, a rare genodermatosis.

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    Area of Science:

    • Dermatology
    • Genetics
    • Pediatrics

    Background:

    • Congenital poikiloderma is a rare genodermatosis characterized by a triad of poikiloderma, photosensitivity, and blistering.
    • Kindler syndrome is an autosomal recessive disorder presenting with skin fragility and blistering.

    Observation:

    • A 3-year-old girl presented with congenital poikiloderma and episodic blistering, occurring spontaneously or after minor trauma.
    • The patient exhibited normal growth and development, with no significant family history of cutaneous disorders.

    Findings:

    • The clinical presentation, including congenital poikiloderma and recurrent blistering, strongly suggests Kindler syndrome.
    • The absence of a positive family history does not exclude the diagnosis of this autosomal recessive condition.

    Implications:

    • This case highlights the importance of considering Kindler syndrome in pediatric patients with congenital poikiloderma and blistering.
    • Early diagnosis and genetic counseling are crucial for managing Kindler syndrome and its potential complications.