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A Journal on Surgery

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Chirurgia 2013 October;26(5):381-2


language: English

Atypical unilateral gynecomastia associated to neurofibromatosis 1

Limite G. 1, Esposito E. 1, Sollazzo V. 1, Formisano C. 1, Ciancia G. 2, Forestieri P. 1

1 Breast Unit, Department of General, Oncologic and Videoassisted Surgery, University Federico II of Naples, Naples, Italy; 2 Department of Pathology, University Federico II of Naples, Naples, Italy


Atypical unilateral gynecomastia associated to neurofibrNeurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition with a birth incidence of 1/3000. NF1 phenotype is often variable, for the most characterized by café-au-lait spots (90%), neurofibromas (70%), axillary freckling (60-90%) and Lisch nodules of the eyes. Gynecomastia may represents a way in which NF1 could express itself in form of neurofibroma of the breast. We describe a case of a 29 years old man presenting a painful unilateral gynecomastia in the left breast. The young man didn’t show classical dermal neurofibromas, but secondary several café-au-lait spots larger than 15 mm on the chest and on the back; axillary freckling; scoliosis; pectus carinatum, specific learning disability. The patient underwent surgical treatment. Mastectomy was performed for symptom relief and for cosmetic reasons, even nipple-areola complex was removed because it represented the most painful area of the breast. The histopathologic examination revealed a plexiform neurofibroma of the breast and showed a nonencapsulated proliferation of slender spindle cells in a myxoid stroma. Each specimen exhibited multinucleate giant cells. Immunoperoxidase staining revealed these cells to be positive with S-100 and CD-34. RT- PCR was positive for NF1 gene mutation research. Most cases of gynecomastia appear to have unknown etiology, especially in cases occurring in adolescence. Unilateral gynecomastia has always to be investigated in order to help establish guidelines for diagnosis and surgical management.

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