Multiple rubbery nodules on the scalp: Case report of 60 Y/F
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A 60-year-old woman presented with two slow-growing pink, firm, rubbery nodules on her scalp. She had personal history of acral melanoma and of spiradenomas and trichoepitheliomas of the scalp. Physical examination found numerous pink, red and bluish smaller nodules on her scalp. The two bigger nodules were surgically excised; histological examination showed lobular structures in a jigsaw puzzle pattern with focal subcutaneous extension, each well circumscribed by a hyaline basement membrane. Palisading peripheral small cells showed hyperchromatic nuclei, central cells were larger, with vesicular nuclei.

The most likely diagnosis was Cylindromas, solitary or multiple, usually arise on the scalp as firm, rubbery, pink-to-red or bluish papulonodular lesions. When they are numerous and covering the entire scalp, they cause hair loss (“turban tumor”). Histologically they consist of dermal nodules without connection to the overlying normal-appearing epidermis. Subcutaneous extension may occur.

Brooke-Spiegler syndrome is a rare autosomal dominant syndrome, with numerous adnexal tumors, mainly localized to scalp and face, histologically corresponding to spiradenomas, cylindromas and trichoepiteliomas. Malignant transformation of lesions occurs in 5% to 10% of patients, heralded by a rapid tumor growth, bleeding or ulceration. The occurrence of malignant transformation of trichoepithelioma into basal cell carcinoma is very rare.

Additionally, patients have an increased risk of developing adenocarcinoma of the salivary glands. Regular clinical follow up is fundamental, as the risk of malignant transformation and the disease severity are not assessable ex ante on the basis of only genotypical and phenotypical characteristics. Acral melanoma was a casual association in this case.