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Case Reports

Abstract

Amyloid deposition in the vulvovaginal mucosa is exceptionally uncommon, with most reported cases involving AL (light-chain) amyloid. Transthyretin (ATTR) amyloid, particularly wild-type form, is classically associated with systemic senile amyloidosis and cardiac disease, and its occurrence as an isolated mucocutaneous process is not well documented. Localized ATTR deposition has been described in connective tissues such as the tenosynovium, often at sites of prior injury or surgery, sometimes preceding or occurring without systemic disease. We report an 84-year-old woman who presented with progressive vulvovaginal sclerosis, initially suspected to be lichen sclerosis or lichen planus. Examination showed labial adhesions, clitoral hood fusion, and fragile “cigarette paper” skin in a keyhole pattern. Histologic evaluation revealed compact hyperkeratosis and focal parakeratosis overlying markedly atrophic squamous epithelium. The underlying papillary and reticular dermis contained interstitial and perivascular deposits of dense, eosinophilic, amorphous material with minimal chronic inflammation. Congo Red and Thioflavin S staining confirmed amyloid deposition. Liquid chromatography-tandem mass spectrometry identified the amyloid as transthyretin. Notably, the patient had a history of localized amyloid in the wrist, identified during carpal tunnel surgery two years earlier. Echocardiography showed no evidence of cardiac involvement, and both serum and urine studies were negative for M protein. This case highlights the importance of considering amyloidosis in chronic vulvar sclerosis, as it may represent an early sign of systemic disease, especially given the risk of cardiac involvement and the availability of disease-modifying therapies for ATTR amyloidosis. Definitive diagnosis requires confirmatory staining and proteomic typing, which are essential to guide management and exclude systemic involvement.