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Serbian Journal of Dermatology and Venereology

The Journal of Serbian Association of Dermatovenereologists (SAD)

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Tuberous sclerosis complex - a case report / Kompleks tuberozne skleroze – prikaz slučaja

1 / Gjorgji Gocev1 / Elena Angelovska1

1University Clinic of Dermatology, Faculty of Medicine, University “Ss Kiril and Metodij”, Skopje, Republic of Macedonia

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Citation Information: Serbian Journal of Dermatology and Venerology. Volume 3, Issue 2, Pages 65–68, ISSN (Print) 1821-0902, DOI: 10.2478/v10249-011-0038-4, February 2013

Publication History

Published Online:
2013-02-12

Abstract

Tuberous sclerosis complex is a multisystem, autosomal dominant disorder affecting children and adults, which results from mutations in either of two genes, TSC1 (encoding hamartin) or TSC2 (encoding tuberin). Tuberous sclerosis complex often causes disabling neurologic disorders, including epilepsy, mental retardation, and autism. Major features of the disease include dermatologic manifestations, such as facial angiofibromas, renal angiomyolipomas, and pulmonary lymphangiomyomatosis. We report a 20-year-old woman with epilepsy and subnormal intelligence, who was admitted for evaluation of multiple facial papules that have gradually increased in number over the past 15 years. She had been previously diagnosed with tuberous sclerosis complex based on findings of cardiac ventricular rhabdomyomas, tuberosclerotic nodules of glial proliferation in the cerebral cortex, and renal angiomyolipoma. The facial papules were angiofibromas, confirming the clinical presentation of tuberous sclerosis complex. Detailed examination of the skin and mucosa revealed Shagreen patches, nontraumatic subungual and gingival fibroma, all features of tuberous sclerosis complex. A multidisciplinary team approach was used for diagnosis and medical care of tuberous sclerosis complex in order to treat many organ systems affected by tuberous sclerosis in our patient. The patient received antiepileptic medications, while rapamycin was recommended.

Sažetak

Uvod: Kompleks tuberozna skleroza (eng. tuberous sclerosis complex − TSC), multisistemsko, autozomno dominantno oboljenje, kod dece i odraslih, rezultat je mutacija u jednom od dva gena, TSC1 (koji kodira hamartin) ili TSC2 (koji kodira tuberin). TSC često izaziva neurološke poremećaje koji dovode do invalidnosti, uključujući i epilepsiju, mentalnu retardaciju, i autizam. Dodatne glavne karakteristike bolesti su manifestacije na koži, npr. angiofibromi lica, angiomiolipomi bubrega i plućna limfangiomiomatoza.

Prikaz bolesnice: Prikazujemo 20-godišnju bolesnicu sa epilepsijom i potprosečnom inteligencijom, koja se javila na Kliniku za dermatologiju zbog većeg broja papula na licu, čiji se broj postepeno povećavao u poslednjih 15 godina. Kod nje je ranije bila postavljena dijagnoza TSC na osnovu nalaza rabdomioma srčanih komora, tuberosklerotskih nodula nastalih usled glijalne proliferacije u moždanoj kori i angiomiolipoma u levom bubregu. Papule na licu bile su dijagnostikovane kao angiofibromi, upotpunjavajući kliničku prezentaciju TSC-a. Detaljnim ispitivanjem kože i sluzokoža otkriveni su: šagrinska mrlja, netraumatski subungvalni fibrom i fibrom gingive, koji predstavljalju karakteristike kompleksa tuberozne skleroze. Lečenje i nega: Kod prikazane bolesnice korišćen je multidisciplinarni timski pristup radi postavljanja korektne dijagnoze, lečenja i nege mnogih organskih sistema koji su bili pogođeni tuberoznom sklerozom. Bolesnica je lečena antiepilepticima sa preporukom da se u dalje lečenje uključi i imunomodulator rapamicin (poznat i pod nazivom sirolimus; po hemijskoj građi makrolidni antibiotik sa snažnim imunosupresivnim i antoproliferativnim dejstvom).

Keywords: Tuberous Sclerosis; Comorbidity; Diagnosis; Anticonvulsants; Sirolimus; Adult

Ključne reči: Tuberozna skleroza; Komorbiditet; Dijagnoza; Antikonvulzivi; Sirolimus; Odrasli

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