Primary localized cutaneous amyloidosis and familial medullary thyroid carcinoma

Abstract

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.

Notalgia paresthetica: a review for dermatologists

“…Multiple reports exist of isolated and rare hereditary cases of pigmented pruritus on the back associated with the multiple endocrine neoplasia type 2 (MEN II) syndrome, suggesting MEN may be a cause of NP. However, this is unlikely to be the principle cause for NP given its typical late mean age of onset and frequent lack of associated systemic disease …”

Frequent association between MEN 2A and cutaneous lichen amyloidosis

“…In 1989 there were reports of some patients with the 634 RET mutation who also had cutaneous lichen amyloidosis (CLA) on the upper part of the back, corresponding to the dermatomes T2 to T6 (Donovan et al ., 1989; Nunziata et al ., 1989). The first symptom of CLA is intense pruritus in a circumscribed area between the vertebral column and one of the two scapulae (Ferrer et al ., 1991; Robinson et al ., 1992). The pruritus improves with sun exposure and worsens during periods of stress.…”

Familial Medullary Thyroid Carcinoma Associated with Cutaneous Lichen Amyloidosis

“…The characteristic features of CLA-pruritic symptoms over years, anatomic location, and histologic changes in the skin (19)(20)(21)(22)-were present in our patient. She appears to be the first to manifest CLA with a RET mutation other than c634 (3,4), and the genotype-phenotype relationship of V804M must now include CLA.…”

“…The lesions occurred predominantly on the upper back on the right side extending to the midline or bilateral extending across the midline (19,20,22). Age of onset occurred usually before 20 years, with the median being 13 years (22) and, in each of two series of patients, the oldest age of first awareness was 26 years (20,22). Yet, in one of nine patients from three families, CLA was first noticed at age 52 years (19).…”