Recklinghausen's Disease: Its Relation to the Endocrine System

Abstract

Throughout this article the term "Recklinghausen's disease" is used for all cases presenting the varying syndrome usually indicated by the name "generalized neurofibromatosis." Von Recklinghausen1 and Adrian 2 have both long since objected to the latter term as giving an incorrect impression of the nature of the growths characteristic of the disease. Many French physicians have also made the equally valid objection that the name "generalized neurofibroma" has thrown undue emphasis on only one aspect of the syndrome and has thus limited the disease, in the minds of many, to its most common forms, to the exclusion of the unusual and incomplete forms, "formes frustes," which are not so unusual as one is led to believe. The latter, of which the author's case is an example, almost invariably shows pigmentation, and the accompanying psychic, nervous, and trophic disorders frequently play a more important part in the life of the patient than do the cutaneous disorders themselves.The form of Recklinghausen's disease most frequently seen is that with multiple molluscous fibromas and neuromas, with or without pig¬ mentation, and no obvious nervous or trophic troubles. Parkes Weber,3 in 1909 (page 52), makes this classification: (1) plexiform neuroma unaccompanied by multiple molluscous tumors of the skin, with or without cutaneous pigmentation, (2) multiple molluscous tumors of the skin without obvious neurofibromatosis of the nerve trunks, with or without cutaneous pigmentation, (3) pigmentation of the skin not (at least as yet) accompanied by obvious neurofibromatosis of the nerve trunks or molluscous tumors (cutaneous neurofibroma), and (4) anomalous cases of neurofibromatosis complicated by the coexist¬ ence of bony or epidermic (papillomatous) changes.. Weber and

Multiple Neurofibroma With Sarcomatous Transformation and Skeletal Involvement

“…Of 31 cases of this disease reported by Sharpe and Youngls in 1937, osseous changes were shown in 7. That the endocrine system, especially the adrenal glands, plays the major role in the causation of neurofibromatosis was the theory expressed by Levin,16 who studied the literature of Recklinghausen's disease and its association with endocrine disturbances. Menstrual anomalies, incomplete and delayed sexual development, acromegaly, cretinism, myxedema, tetany and Addison's disease have been found to be asso¬ ciated with Recklinghausen's disease.…”