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The authors describe a child who presented multiple congenital malformations affecting the cranio-facial region and the extremities associated with a rare skin lesion (incontinentia pigmenti achromians).

There is an increased risk of cancer (mainly breast cancer) in patients with Cowden disease. Little is known of the etiopathogenic mechanisms of this condition, but immunologic abnormalities may be evoked. A young patient with Cowden disease was submitted for gynecologic examination and immunologic investigations. Although no neoplastic disorder had appeared, laboratory investigations disclosed abnormalities of the humoral and cellular immune compartments in the peripheral blood. This rare observation of gynecologic involvement in a very young girl with family antecedents of Cowden disease prompted a review of the gynecologic features and etiopathogenic bases of Cowden disease. The possible role of neoplasia such as breast cancer in this syndrome makes early diagnosis a criterion for good prognosis.