Multiple cutaneous and uterine leiomyomatosis with renal involvement: Report of a rare association

Abstract

Cutaneous leiomyomas (CLs) are uncommon benign smooth muscle tumours characterised by solitary or multiple painful nodules. Based on origin, three types are recognised, namely piloleiomyoma, dartoic leiomyoma, and angioleiomyoma, with piloleiomyomas being the commonest one. Reed's syndrome also known as multiple cutaneous and uterine leiomyomatosis (MCULs) is characterised by CLs in men and CLs and uterine fibroids in women. Association of Reed's syndrome with renal cell carcinoma is labelled as hereditary leiomyomatosis and renal cell carcinoma (HLRCC). Both MCUL and HLRCC are caused by a heterozygous mutation in the fumarate hydratase gene. Besides renal cell carcinoma, there were extremely rare reports of association of MCUL with benign renal lesions. We report a case of a 55-year-old female with segmental tender papulonodular lesions suggestive of leiomyoma associated with uterine leiomyomas and unilateral renal cyst. The case is reported here for its rarity and uncommon association with asymptomatic benign renal cyst.

Reed's syndrome

“…It is noteworthy that the incidence of benign renal cysts is high in HLRCC patients (36%), compared to the general population (4.6%–8.2%). [ 10 ]…”

Reed's syndrome - A rare case of multiple cutaneous and uterine leiomyomatosis with renal cyst

“…[5] Almost 90% of the cutaneous lesions are painful with cold, pressure, and stress being the triggering factors for pain. [6] Suggested pathogenesis of pain may be due to local stimulation of peripheral cutaneous nerve or by ischemia caused by contraction of local smooth muscles. [6] They may appear as solitary or multiple lesions usually located over extremities, trunk, neck, and face.…”

“…[6] Suggested pathogenesis of pain may be due to local stimulation of peripheral cutaneous nerve or by ischemia caused by contraction of local smooth muscles. [6] They may appear as solitary or multiple lesions usually located over extremities, trunk, neck, and face. [7] They may be present in a linear manner or dermatomal distribution or even disseminated in nature.…”

“…[8] In HLRCC patients, incidence of benign renal cysts is higher in comparison to general population. [6] Mutation of fumarate hydratase gene causes activation of the hypoxia pathway through overexpression of hypoxia-induced factors (HIF), that is, HIF 1α and HIF 2α. HIF overexpression causes upregulation of HIF targets like GLUT1 and VEGF, which results in the formation of benign renal cysts as well as renal cell carcinoma via increased angiogenesis and cell proliferation.…”

“…[11] Gupta et al reported a case of Reed syndrome associated with simple renal cyst. [6] Aimeida et al reported a case of Reed's syndrome showing multiple renal cysts with the largest being 17mm in diameter and located in the middle third of left kidney. [8] Mandal et al also found a cystic renal lesion in one family member in their case report.…”