A rare case of diffuse neurofibroma with diaphragmatic eventration:BMC

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a birth incidence of approximately 1:3000 . NF1-associated nerve sheath tumors include externally visible circumscribed cutaneous and subcutaneous neurofibromas that vary from few to innumerable and can evolve into infiltrative diffuse masses of varying sizes, the latter of which are termed diffuse neurofibromas, and often contain Meissner corpuscles . Disease penetrance is virtually 100% in adults with NF1, although there is great phenotypic variability in neurofibroma disease burden among patients, even those carrying identical NF1 germline mutations. Cutaneous and subcutaneous neurofibromas generally start to appear in late childhood and can grow in size and number throughout adulthood

Diffuse neurofibroma of the epidermis invading deeper organs is rare. In the current report, a team of physicians headed by Xian-shuai Li,from Jinhua Hospital, Zhejiang University School of Medicine, China,have put forth a case of diffuse subcutaneous neurofibroma in the thoracoabdominal wall which had invaded the diaphragm and caused diaphragmatic eventration.

The team presented a A 24-year-old male presented with diffuse skin lesions on the chest and abdominal walls from the age of 8, accompanied by pigmentation and epidermal nodular hyperplasia. Because of sudden spontaneous swelling and pain in the left upper abdomen that could not be relieved by rest or changing body position, he went to the emergency department