Poikiloderma, hereditary with sclerotherapy

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Hereditary sclerosing poikiloderma

History
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Weary, 1969 (1971)

Definition
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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.

Occurrence/Epidemiology
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Worldwide, less than 15 patients have been described so far.

Histology
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Histology, fibrosis of the dermis, vascular dilatation in the upper corium, focal absence of melanocytes in the epidermis.

Note(s)
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The entity of the clinical variety described here is questionable, because it can certainly be subsumed under the generic term Kindler syndrome.

Literature
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  1. Aguade, J. P et al (1972) Congenital poikiloderma with vesicobullous lesions: problems in classification of hereditary poikilodermas. Med Cutanea 6: 417-435
  2. 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
  3. Kindler, T (1954) Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Brit J Derm. 66: 104-111
  4. Shimizu, H et al (21997) Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa. Arch Derm 133: 1111-1117
  5. gelding, D 1981) Vignon-Pennamen, M.-D., Cottenot, F. Poikilodermie congenitale avec bulles, type Weary. Ann Derm Venerol 108: 79-83
  6. Weary, P et al (1971) Hereditary acrokeratotic poikiloderma. Arch Derm 103: 409-422
  7. 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.

Incoming links (1)

Kindler syndrome;

Outgoing links (1)

Kindler syndrome;

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Last updated on: 29.10.2020