[A rare variety of polyendocrine neoplasms: the MEN IIb and MEN III syndrome].
The MEN IIb syndrome is a rare form of multiple endocrine neoplasia, clearly defined more than 15 years ago, since which time more than 100 cases have been identified. It has a characteristic phenotype appearance which is unique and should permit more frequent diagnosis. The patient who is the subject of this study had passed through several different hospital departments without his very characteristic appearance being recognized or a diagnosis established. The marfanoid aspect of such patient is however very obvious, with kyphosis, skeletal asymmetry and funnel chest. The facial appearance of blunt features and thick lips is even more specific. The tongue and digestive mucosa are covered with small polypoid lesions which are submucosal ganglioneuromas. The visible presence of fine hyperplastic nerve fibres on the cornea is pathognomonic. This syndrome occurs sporadically but is generally transmitted genetically in an autosomal dominant manner. A medullary thyroid carcinoma, followed or preceded by pheochromocytoma (often bilateral), is associated with these dysmorphic signs. The tumours are themselves preceded by C-cell hyperplasia or adrenal medullary hyperplasia. The ganglioneuromas which predominate in the digestive tract exist from birth. The accompanying symptoms may, initially, be mistaken for inflammatory bowel disease. The prognosis is poor, since it relates to the evolution of the medullary thyroid carcinoma which is particularly malignant and presents at an early age. We have been following the course of this unusual disease of the APUD system in a young man, now aged 26 years, for over 2 years.
D000310:Adrenal Gland Neoplasms / Q000175:diagnosis*; D000328:Adult; D005145:Face; D006801:Humans; D006965:Hyperplasia; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis*; D010280:Parathyroid Glands / Q000473:pathology; D010673:Pheochromocytoma / Q000175:diagnosis; D013964:Thyroid Neoplasms / Q000150:complications / Q000175:diagnosis*
Une variété rare de néoplasies polyendocriniennes: le syndrome MEN IIb ou MEN III.