Gorlin-Goltz syndrome in an older black adult. Case Report

Introduction:Gorlin-Goltz syndrome (GGS), or basal cell nevus syndrome (BCNS), is a rare genetic disease that induces the development of odontogenic keratocysts, skeletal malformations and neoplasms, especially multiple and recurrent basal cell carcinomas (BCC). This condition is rare in black peopl...

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Veröffentlicht in:Revista de la Facultad de Medicina, Universidad Nacional de Colombia Universidad Nacional de Colombia, 2021-04, Vol.69 (2), p.e83066-166
Hauptverfasser: Uribe Valencia, Mauricio Andrés, Velásquez-Tafur, Lina Marcela, Cárdenas-Cardona, Luis Fernando, Jurado-Delgado, Janeth
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Sprache:eng
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Zusammenfassung:Introduction:Gorlin-Goltz syndrome (GGS), or basal cell nevus syndrome (BCNS), is a rare genetic disease that induces the development of odontogenic keratocysts, skeletal malformations and neoplasms, especially multiple and recurrent basal cell carcinomas (BCC). This condition is rare in black people, being reported in this population in only 5% of the cases. Case presentation:A 68-year-old black man reported the constant appearance for approximately 4 years of multiple papules and non-pruritic and non-desquamating skin plaques, with hyperpigmented margins, of different sizes that grew gradually in scalp, left lower eyelid, arms, forearms, back, and lower limbs. Histopathological study showed multiple BCC, and imaging studies identified calcifications in the tentorium cerebelli and cerebral falx, as well as images suggestive of odontogenic cysts. Based on his clinical history, histopathologic and imaging findings, and physical examination, he was diagnosed with GGS. Conclusions:This is the first case of GGS in an older black adult reported in Colombia. This case highlights the relevance of reviewing the medical records and performing a thorough physical examination when approaching the patient, as well as doing a comprehensive geriatric assessment, since they are key to diagnose this rare disease and initiate a timely multidisciplinary treatment. This will allow obtaining better outcomes in these patients.
ISSN:0120-0011
2357-3848
2357-3848
DOI:10.15446/revfacmed.v69n2.83066