Kindler syndrome with unique ocular findings
نویسندگان
چکیده
منابع مشابه
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 feat...
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Rett syndrome is a rare neurodegenerative disease, characterized by a year of normal development, followed by rapid mental and physical deterioration. A review of the medical literature reveals only limited research on ocular abnormalities in this population. The purpose of this paper is to investigate visual findings in a cohort of patients with Rett syndrome. Seven females with Rett syndrome ...
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PURPOSE To discuss the ophthalmic findings and their clinical significance in 10 new cases of Jacobsen syndrome (mental retardation, craniofacial anomalies, congenital heart defects, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature. METHODS Ten new cases of Jacobsen syndrome were collected and studied prospectively for detection of...
متن کاملSporadic Kindler Syndrome with a novel mutation*
We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The...
متن کاملGastrointestinal Manifestation of Kindler Syndrome
1. Kindler T. congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954; 66: 104-11. 2. Yazdanfar A, Hashemi B. Kindler syndrome: report of three cases in a family and a brief review. Int J Dermatol 2009; 48:145-52. 3. Penagos H, Jaen M, Sancho MT, Saborio MR, Fallas VG, Siegel DH, et al. Kindler syndrome in Native Americans from Panama: report...
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ژورنال
عنوان ژورنال: Indian Journal of Ophthalmology
سال: 2020
ISSN: 0301-4738
DOI: 10.4103/ijo.ijo_2261_19