Familial clustering of Leiomyomatosis peritonealis disseminata: an unknown genetic syndrome?

Abstract

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.

Case presentation: 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.

Conclusion: 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.

Figure 1

Intraabdominal picture of a leiomyoma. Intraabdominal picture taken on endoscopic laparoscopy, showing a pedunculated tumor on the bowels (large white arrows indicate the "head" and small white arrows indicate the "trunk" of the leiomyoma).

Figure 2

Skin lesions. Right lower extremity with multiple itching nodules, excoriations from scratching and general lichenification of the skin (inset: enlarged lesion with excoriation and reddish halo).

Figure 3

Family pedigree. Family pedigree (squares indicating males, circles indicating females, slashed symbols indicating deceased family members, single line indicates family members with abdominal symptoms but no diagnosis of LPD, double crossed lines indicate family members with diagnosis of LPD, question marks indicate family members without any medical information), additional diagnosis of Raynaud's disease and Prurigo nodularis is present in family members II10, IV2, IV3, IV4 and IV7.