Extramammary Paget's Disease in Two Siblings

S ir, The familial occurrence of Paget’s disease is extremely rare. To our knowledge, only one report 1 has been published previously in the English literature and five 2–6 in the Japanese literature. We describe two siblings with extramammary Paget’s disease. Case 1. In February 1998, we evaluated a 74‐year‐old man, an older brother of case 2, for an erythematous lesion on the pubic region of 3 years’ duration. The lesion had gradually enlarged and elevated. On physical examination, an erythematous plaque, barely elevated, measuring 45 × 46 mm, was noted on the right side of the mons pubis. A biopsy specimen showed large atypical cells with abundant cytoplasm proliferating in the epidermis and adnexal epithelium with some Pagetoid cells invading the dermis. The lesion was removed surgically with 3 cm margins. The patient had no recurrence or metastasis 1 year after the surgical resection. Case 2. A 66‐year‐old woman, a younger sister of case 1, had noted a brown spot on the pubic region for the previous 5 years. She visited our out‐patient clinic independently from case 1 in March, 1998. There was no Paget’s disease other than case 1 in family members including three siblings, although their mother and younger brother died of gastric cancer at the ages of 83 years and 71 years, respectively. On physical examination, a solitary brownish pigmented macule which measured 46 × 26 mm was present on the right side of the mons pubis. The diagnosis of a rare case of pigmented Paget’s disease was made by the biopsy, and the lesion was excised with 2 cm margins. Histological examination disclosed numerous clear cells with cytologic atypia clustered in the nests in the epidermis. These Paget’s cells contained melanin granules. She had no recurrence or metastasis at follow up 1 year after the surgical resection.