Areolar Sebaceous Hyperplasia With Underlying Primary Duct Carcinoma of the Breast in a Woman With Donohue Syndrome (Leprechaunism)

Abstract

Areolar hyperplasia is only reported when exaggerated, and even so, exaggerated areolar sebaceous hyperplasia is rare. We have recently seen a case of areolar sebaceous hyperplasia in a 32-year-old woman with Donohue syndrome (leprechaunism), who also had an invasive ductal carcinoma in the same breast. The patient showed typical "elfin-like" face with wide nostrils and thick lips, large and low-set ears, and dysplastic nails. The areola showed a yellowish thickened plaque of 5-cm diameter that corresponded to a hyperplasia of the sebaceous glands. Immunohistochemistry for the mismatch repair proteins (MLH1, MSH2, MSH6, and PMS2) was performed on the sebaceous hyperplasia and on the breast carcinoma, and no lack of expression of the markers was evidenced. We have found no other reported case of areolar sebaceous hyperplasia either in cases of breast carcinoma or in cases of leprechaunism.

Rare Presentation of Areolar Sebaceous Hyperplasia.

“…The first case of sebaceous hyperplasia of the areola described in the literature was reported by Catalano in 1985 [9]. Since that date, few cases have been published; 10 cases in females and 6 cases in males in total [7,[9][10][11][12][13][14][15][16][17][18][19][20][21][22]. Therefore, there is no consensus about the exact microscopic features of this entity.…”

Areolar sebaceous hyperplasia associated with oral and genital Fordyce spots

“…The disease was found to be bilateral in five women and two men, while in the remaining cases was unilateral. 2,3 Only two patients also had oral Fordyce spots, while to date there are no reports of ASH associated with genital Fordyce spots. Clinically, ASH may appear as a diffuse yellowish thickening or swelling of areola, yellowish isolated papules or, as in our case, yellowish plaques due to the confluence of minute papules.…”

Unilateral areolar sebaceous hyperplasia on nipple scraping sample

“…In the course of the years, few other cases of bilateral and unilateral ASH in both genders have been reported and all on histological samples.…”