Urological Manifestations of Kindler Syndrome: A Case Report.
| Autor: | Ghorai R; Urology, All India Institute of Medical Sciences, Rishikesh, IND., Singh G; Urology, All India Institute of Medical Sciences, Rishikesh, IND., Mittal A; Urology, All India Institute of Medical Sciences, Rishikesh, IND., Panwar VK; Urology, All India Institute of Medical Sciences, Rishikesh, IND., Talwar H; Urology, All India Institute of Medical Sciences, Rishikesh, IND. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2022 May 05; Vol. 14 (5), pp. e24758. Date of Electronic Publication: 2022 May 05 (Print Publication: 2022). |
| DOI: | 10.7759/cureus.24758 |
| Abstrakt: | Kindler syndrome is a rare autosomal recessive skin disorder. It results from mutation of the FERM domain containing kindlin-1 (FERMT1) that leads to loss of function of kindlin-1, which plays a role in keratinocyte adhesion, polarization, proliferation, and migration. It is characterized by skin blistering, photosensitivity, progressive poikiloderma, and skin atrophy. The mucosae genitourinary system is commonly affected. The urological manifestations include meatal stenosis, urethral stricture, phimosis, and scarring of the glans penis. Skin biopsy with genetic analysis is the gold standard for diagnosis. Genetic counseling and a multidisciplinary approach are the mainstays of treatment. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2022, Ghorai et al.) |
| Databáze: | MEDLINE |
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