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Kindler syndrome: a rare case report from Syria

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 comp...

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Detalles Bibliográficos
Autores principales: Edrees, Souma, Jarkas, Natalie, Hraib, Munawar, Al-Yousef, Khaled, Baddour, Roula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205305/
https://www.ncbi.nlm.nih.gov/pubmed/37229095
http://dx.doi.org/10.1097/MS9.0000000000000503
Descripción
Sumario: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