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Kindler syndrome

Synonyms
Bullous acrokeratotic poikiloderma of kindler and weary; Congenital bullous poikiloderma; Hereditary acrokeratotic poikiloderma of Weary; Kindler's syndrome; Poikiloderma of Kindler; Poikiloderma, congenital, with bullae, weary type; Poikiloderma, hereditary acrokeratotic
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Kindler Syndrome
Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (most prominent during childhood and usually decreasing after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis. Other mucosal findings can include ectropion, urethral stenosis, and severe phimosis. Severe long-term complications of KS include periodontitis, mucosal strictures, and aggressive squamous cell carcinomas. Manifestations can range from mild to severe.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Leila Youssefian
Hassan Vahidnezhad
Jouni Uitto
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Available tests

27 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C20orf42, DTGCU2, KIND1, UNC112A, URP1, FERMT1
    Summary: FERM domain containing kindlin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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