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RECKLINGHAUSEN'S DISEASE: A MULTIFACETTED SYNDROME
Author(s) -
Schönebeck Jan,
Ljungberg Otto
Publication year - 1970
Publication title -
acta pathologica microbiologica scandinavica section a pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.909
H-Index - 88
eISSN - 1600-0463
pISSN - 0365-4184
DOI - 10.1111/j.1699-0463.1970.tb02523.x
Subject(s) - neurofibromatosis , medicine , medullary cavity , café au lait spot , pathology , neurofibromin 1 , disease , parathyroid adenoma , thyroid carcinoma , medullary carcinoma , dermatology , thyroid , adenoma
A case of multiple neurofibromatosis associated with café‐au‐lait coloured skin spots, a metastasizing para‐aortic phaeochromocytoma and a parathyroid adenoma is reported. Investigation of the patient's family has revealed seven further cases of multiple neurofibromatosis. In four of these café‐au‐lait coloured skin spots and in one bilateral opticus glioma have also been found. The relationship between von Recklinghausen's disease and allied conditions such as the “neuro‐cutaneous”—, “medullary thyroid carcinoma‐phaeochromocytoma”—and “pluriglandular” syndrome is discussed.