CASE REPORTGynaecomastia, neurofibromatosis and breast cancer
Section snippets
Case report
An 18-year-old male with Neurofibromatosis Type 1 was referred for surgical treatment of bilateral ductal carcinoma in situ (DCIS) discovered unexpectedly through cosmetic breast reduction surgery.
MH had presented to his general practitioner at the age of 10 complaining of “lumps under his skin”. On examination the general practitioner had found cutaneous stigmata of neurofibromatosis including café-au-lait spots, axillary freckling and neurofibromata. Review by a paediatrician confirmed the
Acknowledgements
The authors would like to thank Miss C.A. Reid, Miss P. Bond and the late Professor Sloan of the Royal Liverpool University Hospital, for their help in the management of this case.
References (5)
- et al.
Gynaecomastia in adolescent boys
J Am Med Assoc
(1961) - et al.
The role of fine needle aspiration cytology (FNAC) in the diagnosis of breast masses in males
Eur J Surg Oncol
(1988)
Cited by (23)
Gynaecomastia revealing neurofibromatosis type 1 in a young child
2009, European Journal of Radiology ExtraCitation Excerpt :A case of von Recklinghausen disease presented as a neurofibrosarcoma of the breast has been reported, as well as that of a primary malignant schwannoma of the breast [10,13]; the etiology of malignant transformation may be post traumatic or associated with incomplete surgical excision. Wilson et al. has reported a case of bilateral ductal carcinoma in situ (DCIS), in an 18-year-old male with neurofibromatosis type 1, and he concluded that there is a synergy between the NF1 gene and a breast cancer predisposition gene [14]. Treatment of breast neurofibromas is carried out through surgical excision [5].
Metaplastic breast carcinoma in a patient with Von Recklinghausen's disease
2007, Clinical Breast CancerClinical characteristics and mutation spectrum of neurofibromatosis type 1 in 27 turkish families
2021, Balkan Medical JournalBreast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: A new genotype-phenotype correlation
2019, Journal of Medical GeneticsAge-specific risk of breast cancer in women with neurofibromatosis type 1
2015, British Journal of Cancer