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1.
Ann Med Surg (Lond) ; 85(5): 2077-2080, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37229095

RESUMO

Kindler syndrome is a rare autosomal recessive inherited disease. The authors report a case with unique presentation that has never reported before in the medical Literatur" lanugo hair". This is a case of a 13-year-old Syrian child, who presented with difuse fine face hair, and serious urinary complications. Kindler syndrome is characterized by acral skin blistering beginning at birth, diffuse cutaneous atrophy, photosensitivity, poikiloderma, and various mucosal findings. Highlighting a set of clinical diagnostic criteria; which is used only if a genetic test is not available.

2.
Case Rep Med ; 2021: 4476363, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34721586

RESUMO

Primary urinary bladder amyloidosis is a rare disorder of protein metabolism characterized by the extracellular deposition of fibrillin. To date, fewer than 200 cases have been reported in the literature. We herein present a case of 59-year-old female with primary multifocal recurrent urinary bladder amyloidosis. The patient was treated with a new method (laser therapy) mentioned for the first time in the literature. After 18 months of treatment, the patient has no complaints. Our case illustrates a new procedure in the treatment of primary multifocal bladder amyloidosis.

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