A 28-Year-Old Male Patient with Nail Tumors, Skin Lesions, and Epilepsy.

Autor: Balak DM; Department of Dermatology, Reinier de Graaf Gasthuis, Delft, The Netherlands; Department of Dermatology, Erasmus University Medical Center, Rotterdam, The Netherlands., Zonnenberg BA; Department of Internal Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Spitzer-Naaijkens JM; Department of Pathology, Reinier de Graaf Gasthuis, Delft, The Netherlands., Hulshof MM; Department of Dermatology, Reinier de Graaf Gasthuis, Delft, The Netherlands.
Jazyk: angličtina
Zdroj: Case reports in dermatology [Case Rep Dermatol] 2017 Jan 26; Vol. 9 (1), pp. 12-19. Date of Electronic Publication: 2017 Jan 26 (Print Publication: 2017).
DOI: 10.1159/000455037
Abstrakt: Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of benign hamartomas in multiple organs. Most patients with TSC exhibit cutaneous manifestations.
Methods: We report a 28-year-old patient with multiple pink papules at the proximal nail fold of several toes.
Results: Histopathological analysis of a biopsy of a papule was consistent with an ungual fibroma. Histopathological analysis of a biopsy of an elevated skin-colored plaque at the lower back was diagnostic for a Shagreen patch. These findings were consistent with a clinical diagnosis of TSC. This patient was subsequently referred to a multidisciplinary TSC clinic for further screening, which revealed a giant cell astrocytoma and multiple subependymal tubers. Annual monitoring was recommended. The skin lesions were treated with topical rapamycin ointment.
Conclusions: Recognizing dermatological manifestations of TSC is of importance to allow early diagnosis. TSC should be considered as a differential diagnosis in the case of ungual fibromas, even in older patients.
Databáze: MEDLINE
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