Retrospective diagnosis of Kindler syndrome in a 37-year-old man
Authors: Thomson, M. A.; Ashton, G. H. S.1; McGrath, J. A.1; Eady, R. A. J.1; Moss, C.
Source: Clinical & Experimental Dermatology, Volume 31, Number 1, January 2006 , pp. 45-47(3)
Publisher: Blackwell Publishing
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Abstract:
Summary Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood, followed by photosensitivity, progressive poikiloderma and cutaneous atrophy. Other features include webbing of the toes and fingers, palmoplantar hyperkeratosis, gingival fragility, poor dentition, and mucosal involvement in the form of urethral, anal and oesophageal stenosis. The recent finding of KIND1 mutations in Kindler syndrome facilitates early diagnosis, prophylactic measures and more precise definition of the phenotype. In the family described here, molecular diagnosis of Kindler syndrome in an infant with acral blisters led to the belated diagnosis in a severely affected relative whose condition had remained unidentified for 37 years.Document Type: Research article
DOI: 10.1111/j.1365-2230.2005.01930.x
Affiliations: 1: Genetic Skin Disease Group, St John's Institute of Dermatology, Division of Skin Sciences, Guy's, King's College and St Thomas' Hospitals Medical School, London, UK
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