Familial clustering of Leiomyomatosis peritonealis disseminata: an unknown genetic syndrome?
BACKGROUND
Leiomyomatosis peritonealis disseminata (LPD) is defined as the occurrence of multiple tumorous intraabdominal lesions, which are myomatous nodules. LPD is a rare disease with only about 100 cases reported. The usual course of LPD is benign with the majority of the patients being premenopausal females. Only two cases involving men have been reported, no syndrome or familial occurrence of LPD has been described.


METHODS
We describe a Caucasian-American family in which six members (three men) are diagnosed with Leiomyomatosis peritonealis disseminata (LPD) and three deceased family members most likely had LPD (based on the autopsy reports). Furthermore we describe the association of LPD with Raynaud's syndrome and Prurigo nodularis.


CONCLUSIONS
Familial clustering of Leiomyomatosis peritonealis disseminata (LPD) has not been reported so far. The etiology of LPD is unknown and no mode of inheritance is known. We discuss possible modes of inheritance in the presented case, taking into account the possibility of a genetic syndrome. Given the similarity to other genetic syndromes with leiomyomatosis and skin alterations, we describe possible similar genetic pathomechanisms.
Halama
Niels
N
Division of Gastroenterology, Department of Internal Medicine, Medical College of Ohio, 3000 Arlington Avenue, Toledo, Ohio 43614, USA. nhalama@gmx.net
Grauling-Halama
Silke A
SA
Daboul
Isam
I
D000368:Aged; D005260:Female; D006801:Humans; D018231:Leiomyomatosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010534:Peritoneal Neoplasms / Q000235:genetics*; D011536:Prurigo / Q000235:genetics; D011928:Raynaud Disease / Q000235:genetics; D013577:Syndrome