Title of article
Kindler’s syndrome: a case report
Author/Authors
Khan, Ikram Ullah Pakistan Institute of Medical Sciences - Dermatology Department, Pakistan , Fazal, Shafia Pakistan Institute of Medical Sciences - Dermatology Department, Pakistan
From page
49
To page
52
Abstract
Kindler syndrome is one of the rare autosomal recessive disorders associated with skinfragility and is characterized by blistering in infancy, photosensitivity and progressivepoikiloderma. It involves the skin and mucous membranes with radiological changes. Thegenetic defect has been identified on the short arm of chromosome 20. This report describes a48-year-old patient with classical features like blistering and photosensitivity since childhoodand the subsequent development of poikiloderma. The differential diagnosis of Kindler’ssyndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosiscongenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xerodermapigmentosum. Our patient had classical cutaneous features of Kindler syndrome withdysphagia as a complication. Her two children, two brothers, one sister and two daughters ofanother sister are also suffering from the same problem.
Keywords
Kindler’s syndrome
Journal title
Journal of Pakistan Association of Dermatologists
Journal title
Journal of Pakistan Association of Dermatologists
Record number
2573571
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