Mucosal neuromata syndrome (MEN type IIb (III)).

According to the classification of Steiner et al' three syndromes characterised by multiple neoplasms of the endocrine glands have been delineated: multiple endocrine neoplasia (MEN) type I (McKusick No *13110), MEN type IIa or II (*17140), and MEN type IIb or III (*16230).The type and incidence of the major lesions in the three MEN syndromes2 are summarised in the table.The clinical entity in which multiple mucosal neuromas, phaeochromocytoma, and medullary thyroid carcinoma are combined (MEN Ilb or III) was first described by Williams and Pollock3 and has been further detailed by Schimke et at and Gorlin et al.5 6 Clinical courseAn intriguing observation in MEN type lIb (III) is the association of multiple endocrine neoplasia with a distinct phenotype, mucosal neuromas, intestinal ganglioneuromatosis, and neurological findings. THE DISTINCT PHENOTYPE (FIGS 1 TO 3)A slim, asthenic, Marfanoid habitus is present in all patients and there is also a variable degree of muscle wasting.In some patients, the muscle wasting may be severe, simulating a myopathic state.47-This muscle wasting is apparently responsible for the appearance of different skeletal deformities, such as kyphoscoliosis, pes cavus, genu valgum, and in- creased joint mobility.46 13 The face is elongated with large, 'blubbery', nodular lips (also called bumpy, patulous lips).6 12 14-16 Neuromas may involve the eyelids, conjunctivae, and corneae and this results in thickening and eversion of the eyelids and linear, yellowish elevations and infiltrations of the conjunctivae.Enlarged corneal nerves are observed on slit lamp examination.17Examination of the skin may reveal caf6 au lait spots, cutaneous neuromas, circumoral or midfacial lentiginosis,7 18 19