Journal article
Characterization of the clinical features of five families with hereditary primary cutaneous lichen amyloidosis and multiple endocrine neoplasia type 2
Henry Ford Hospital medical journal, Vol.40(3-4), pp.249-252
1992
PMID: 1362415
Abstract
The hereditary conditions of primary cutaneous lichen amyloidosis and multiple endocrine neoplasia type 2 (MEN 2) are rare clinical entities. The initial reports of two families in which the two conditions coincided have led to the identification of at least eight additional families with this clinical syndrome. In this report we describe the clinical features in five of these eight families. The salient feature in these five families is the presence of unilateral (46%) or bilateral (64%) pruritic and lichenoid skin lesions located over the upper portion of the back. Family members describe these skin lesions as intermittently intensely pruritic leading to scratching and excoriation of the upper back region. The presence of MEN 2 has been documented in 97% of family members with this skin lesion, the one exception being a child who is at risk for development of MEN 2A in whom the diagnosis has not yet been made. Of family members who have MEN 2A, 27% do not have an identifiable skin lesion, although the skin lesion developed in one patient two years after a curative thyroidectomy for medullary thyroid carcinoma (MTC). Four of the five families have members with pheochromocytoma; one with five affected members has only MTC. The finding of this clinical syndrome in geographically diverse portions of the world and the lack of overlap with MEN 2A without the skin lesion suggest it is a distinct clinical variant of MEN 2A.
Details
- Title: Subtitle
- Characterization of the clinical features of five families with hereditary primary cutaneous lichen amyloidosis and multiple endocrine neoplasia type 2
- Creators
- M F Robinson - Baylor College of MedicineE J FurstV NunziataM L BrandiJ P FerrerM J Martins BugalhoG di GiovanniR J SmithD T DonovanB R Alford
- Resource Type
- Journal article
- Publication Details
- Henry Ford Hospital medical journal, Vol.40(3-4), pp.249-252
- PMID
- 1362415
- ISSN
- 0018-0416
- Grant note
- M01-RR00350 / NCRR NIH HHS R01-DK38146 / NIDDK NIH HHS
- Language
- English
- Date published
- 1992
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984256933202771
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