Kindler syndrome.
Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.
Kaviarasan
P K
PK
Department of Dermatology Venereology and Leprosy, Rajah Muthiah Medical College and Hospital, Annamalai University, India.
Prasad
P V S
PV
Shradda
Viswanathan
P
P
D000293:Adolescent; D001284:Atrophy / Q000209:etiology; D006801:Humans; D007972:Leukoplakia, Oral / Q000209:etiology; D008297:Male; D010688:Phimosis / Q000209:etiology; D010787:Photosensitivity Disorders / Q000209:etiology*; D011038:Rothmund-Thomson Syndrome / Q000150:complications*; D012867:Skin / Q000473:pathology*; D012873:Skin Diseases, Genetic / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome; D013684:Telangiectasis / Q000209:etiology