Synonym(s)
Hereditary sclerosing poikiloderma
HistoryThis section has been translated automatically.
Weary, 1969 (1971)
DefinitionThis section has been translated automatically.
Rare, autosomal-dominantly inherited, congenital poikiloderma (genodermatosis) characterized by generalized poikiloderma, palmoplantar sclerosis, hyperkeratotic-sclerotic ligaments in the large flexures, flail fingers and later soft tissue calcifications (calcinosis). Other associations may be: cardiopulmonary malformations (e.g. aortic stenosis, pulmonary fibrosis), avian facies, hypoplastic mandibula, dental disorders.
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Occurrence/EpidemiologyThis section has been translated automatically.
Worldwide, less than 15 patients have been described so far.
HistologyThis section has been translated automatically.
Histology, fibrosis of the dermis, vascular dilatation in the upper corium, focal absence of melanocytes in the epidermis.
Note(s)This section has been translated automatically.
The entity of the clinical variety described here is questionable, because it can certainly be subsumed under the generic term Kindler syndrome.
LiteratureThis section has been translated automatically.
- Aguade, J. P et al (1972) Congenital poikiloderma with vesicobullous lesions: problems in classification of hereditary poikilodermas. Med Cutanea 6: 417-435
- Jobard, F et al (2003) Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Molec gene 12: 925-935
- Kindler, T (1954) Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Brit J Derm. 66: 104-111
- Shimizu, H et al (21997) Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa. Arch Derm 133: 1111-1117
- gelding, D 1981) Vignon-Pennamen, M.-D., Cottenot, F. Poikilodermie congenitale avec bulles, type Weary. Ann Derm Venerol 108: 79-83
- Weary, P et al (1971) Hereditary acrokeratotic poikiloderma. Arch Derm 103: 409-422
- Wieshuber C et al (2011) Hereditary sclerosing poikiloderma: more than one dermatosis. Abstract CD 46th DDG meeting DOI: 10.1111/j.1610-0387.2011.07633.
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Kindler syndrome;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer