Kindler syndrome: A very rare bullosa poikyloderma discovered in a baby
نویسندگان
چکیده
منابع مشابه
A newborn presenting with epidermolysis bullosa with duodenal atresia: A very rare case report and review of the literature
Background: Epidermolysis bullosa (EB) comprises a group of genetically determined skin fragility disorders, which are characterized by blistering of the skin and mucosa, in response to little or no apparent trauma. These disorders represent heterogeneous phenotypes and are associated with various complications ranging from localized skin fragility to neonatal death. Nevertheless, the term "Epi...
متن کاملKindler Syndrome: A case Report from Iran
Kindler syndrome (KS) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. It affects the skin, mucous membranes, and oral cavity and is caused by mutations in the KIND1 gene on 20p12.3. The first case of KS associated with periodontitis was reported in 1996, and have been infrequ...
متن کاملKindler 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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A 7-year- old male child presented with the complaints of tense abdominal distension and swelling over feet since 1 month. The patient had repeated episodes of similar complaints since last two years with partial or complete relief after taking various forms of allopathic therapy. On imaging, Budd-Chiari syndrome was diagnosed which was hallmarked by occluded Inferior venacava (IVC), caudate lo...
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ژورنال
عنوان ژورنال: Medical Case reports and Reviews
سال: 2020
ISSN: 2517-7214
DOI: 10.15761/mcrr.1000144