PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS AND FAMILIAL MEDULLARY-THYROID CARCINOMA

We have studied a family with an autosomal dominant inheritance of primary localized cutaneous amyloidosis (PLCA) and familial medullary thyroid carcinoma (MTC). Ten family members were screened for multiple endocrine neoplasia (MEN) 2; five were found to have MTC and two had C-cell hyperplasia. None had evidence of phaeochromocytoma or parathyroid abnormalities. Five of these seven patients presented characteristic interscapular hyperpigmented lesions, showing dermal amyloid deposits in two of the four patients in which a biopsy was performed. The data are analysed in the light of two recent reports of MEN 2A associated with identical lesions. We conclude that PLCA should be sought in MTC patients, even if no other endocrinopathies are present. This may be informative of the familial character of MTC in index cases and also of the tumour gene status in family members who are being screened.