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
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