[Familial giant hemangiomas of the liver. Study of a family and review of the literature].
In this report we present for the first time strong evidence for autosomal-dominant inheritance of grant liver hemangiomas. Furthermore, we review the current literature about incidence, pathogenesis, clinics, as well as diagnostic and therapeutic aspects of LH. A large family of Italian origin is described where three female patients in three successive generations suffered from large symptomatic LH. In addition, two other female relatives exhibited asymptomatic LH on sonographic scans. The restriction of the disease to the female gender could be explained by a sex-dependent difference in penetrance or expressivity of a presumable "liver-hemangioma" gene, or by known proliferative factors such as female sex hormones. We also observed an increased incidence of adenomas of the thyroidea among members with or without LH of the presented family. This uncommon familial association has also not yet been described and its genetic aspects are discussed.
Moser
C
C
Kantonsspital Winterhur, Medizinische Klinik, Universität Zürich.
Hany
A
A
Spiegel
R
R
D000236:Adenoma / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D006392:Hemangioma, Cavernous / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D008113:Liver Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000000981:diagnostic imaging / Q000235:genetics; D010375:Pedigree; D013964:Thyroid Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics; D014463:Ultrasonography
Familiäre Riesenhämangiome der Leber. Untersuchung einer Familie und Literaturübersicht.