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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.
Primary localized cutaneous amyloidosis (PCLA) of the vulva is rare and can mimic other lesions. This case suggests human papillomavirus (HPV) may trigger vulvar PCLA, emphasizing accurate diagnosis and exclusion of systemic disease.
Area of Science:
- Dermatology
- Gynecologic Pathology
Background:
- Primary localized cutaneous amyloidosis (PCLA) of the vulva is an uncommon condition.
- Its presentation can resemble neoplastic or inflammatory vulvar lesions.
- Association with human papillomavirus (HPV) necessitates ruling out systemic involvement.
Purpose of the Study:
- To report a case of vulvar PCLA.
- To investigate the potential role of HPV in its pathogenesis.
- To emphasize diagnostic considerations for vulvar lesions.
Main Methods:
- Histologic examination with Congo red staining and birefringence.
- HPV genotyping.
- Multidisciplinary team evaluation to exclude systemic amyloidosis.
- Surgical excision and follow-up.
Main Results:
- A 73-year-old woman presented with a solitary vulvar lesion.
- Histology confirmed amyloid deposits in the papillary dermis.
- HPV type 40 (low-risk) was identified; no intraepithelial neoplasia found.
- Systemic amyloidosis was excluded.
- The patient remained in remission 33 months post-excision.
Conclusions:
- PCLA should be considered in the differential diagnosis of vulvar lesions.
- HPV may act as a trigger for localized vulvar amyloidogenesis.
- Accurate diagnosis and exclusion of systemic disease are crucial.
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