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Kindler syndrome (KS, MIM173650) is a rare autosomal recessive genodermatosis. The clinical features resemble those seen in different epidermolysis bullosa types and thus the Kindler syndrome is considered as a subtype of inherited epidermolysis bullosa.
Differential diagnoses: all other EB forms, congenital photodermatoses and poikiloderma.
The Department of Dermatology, University Hospital Freiburg serves as a center for clinical, molecular and genetic diagnostics of KS.
- Extensive reduplication and disruption of lamina densa
- Cleft formation is variable, intraepidermal, junctional or subepidermal
- Congenital skin blistering which resolves slowly with age
- Mild photosensitivity which improves with age and early, generalized, progressive poikiloderma with extensive atrophy
- Presence of palmoplantar keratoderma and nail abnormalities is variable; webbing of the fingers and contractures may occur
- Gingival fragility, poor dentition, as well as early and rapidly progressive periodontitis are common features
- Other mucous membranes, i.e. urethral, anal, oesophageal and genital mucosae may be involved
- Lesions can lead to stenosis of the respective organs. Squamous cell carcinomas of skin and mucosas have been reported as complications of KS
- The gene responsible KS is localized on the short arm of chromosome 20 and is designated FERMT1 (KIND-1)
- Rare autosomal recessive genodermatosis
- Epidermal athrophy
- Focal vacuolization of basal keratinocytes
- Pigmentary incontinence in the upper dermis
- Mild lymphotic infilrate
© 2006 Netzwerk Epidermolysis bullosa