Halama Niels, Grauling-Halama Silke A, Daboul Isam
Division of Gastroenterology, Department of Internal Medicine, Medical College of Ohio, 3000 Arlington Avenue, Toledo, Ohio 43614, USA.
BMC Gastroenterol. 2005 Oct 13;5:33. doi: 10.1186/1471-230X-5-33.
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.
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.
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.
播散性腹膜平滑肌瘤病（LPD）被定义为腹腔内出现多个肿瘤性病变，即肌瘤结节。LPD是一种罕见疾病，仅报告了约100例病例。LPD的通常病程为良性，大多数患者为绝经前女性。仅报告了两例男性病例，未描述LPD的综合征或家族性发病情况。
我们描述了一个美籍高加索家庭，其中六名成员（三名男性）被诊断为播散性腹膜平滑肌瘤病（LPD），三名已故家庭成员很可能患有LPD（根据尸检报告）。此外，我们描述了LPD与雷诺综合征和结节性痒疹的关联。
迄今为止，尚未报道播散性腹膜平滑肌瘤病（LPD）的家族聚集性。LPD的病因不明，也不存在已知的遗传模式。考虑到遗传综合征的可能性，我们讨论了本病例中可能的遗传模式。鉴于与其他伴有平滑肌瘤病和皮肤改变的遗传综合征相似，我们描述了可能相似的遗传发病机制。
