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Updated: Jan 31, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Symptomatic Vulvar Primary Cutaneous Amyloidosis Associated With Low-Risk HPV: A Case Report
Jorge Hoegl1,2, Andreina Fernandes3,4, Daniel Marquez5,6
1Cátedra de Ginecología, Escuela de Medicina José María Vargas, Facultad de Medicina Universidad Central de Venezuela Caracas Venezuela.
Abstract:
Primary localized cutaneous amyloidosis (PCLA) of the vulva is an infrequent diagnosis. Its clinical presentation may mimic neoplastic or inflammatory lesions and could even be associated with human papillomavirus (HPV) of low or high oncogenic risk, making accurate diagnosis and exclusion of systemic involvement essential. A 73-year-old woman presented with a flat, macular, solitary vulvar lesion. Histologic evaluation revealed amyloid deposits in the papillary dermis, confirmed by Congo red staining and apple-green birefringence. HPV genotyping identified type 40, a low-risk genotype, with no evidence of intraepithelial neoplasia. The diagnosis of systemic amyloidosis was ruled out by a multidisciplinary team evaluation. A complete local excision was performed. After 33 months of follow-up, the patient remains in remission. This case highlights the importance of including PCLA in the differential diagnosis of vulvar lesions and suggests a potential role of HPV as a possible trigger for vulvar localized amyloidogenesis.
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