Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications.

Abstract

Hereditary lymphedemas that are not associated with other malformations usually affect the lower limbs and are inherited in an autosomal dominant fashion. These non-syndromic hereditary lymphedemas are categorized by their age of onset, being either congenital (Milroy disease) or having an onset in childhood or around puberty (Meige disease). We describe a family in which three individuals in three generations had unusually late onset of lymphedema in their mid-twenties or thirties. The proband additionally developed a very rare lymphangiosarcoma. This tumor, usually associated with post-mastectomy lymphedema, has not been described in late-onset hereditary lymphedema. Because of an unusually high incidence of multiple primary tumors in association with lymphangiosarcoma in the literature (approximately 10%) and the proband's own familial cancer background, we speculate that an inherited predisposition to malignancy may underlie the development of lymphedema-associated lymphangiosarcoma.

• Authors: H C Andersson, D M Parry, J J Mulvihill
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 56 Issue 1 Pg. 72-5 (Mar 13 1995) ISSN: 0148-7299 [Print] United States
• PMID: 7747790 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Adult
• Aged
• Fatal Outcome
• Female
• Genes, Dominant
• Humans
• Lymphangiosarcoma (complications, genetics)
• Lymphedema (complications, genetics)
• Male
• Middle Aged
• Neoplastic Syndromes, Hereditary (complications, genetics)
• Pedigree