Familial Multiple Cutaneous Leiomyomas

Abstract

Background: Leiomyomas are rare, benign tumors that originate from the arrector muscle of hair follicles (cutaneous leiomyoma, piloleiomyoma), the tunica dartos of the scrotum and the mammillary muscle of the nipple (genital leiomyoma), and the smooth muscle of blood vessels (angioleiomyoma). Observations: We describe 6 members of a single family with mostly painful papulonodular cutaneous lesions on the limbs, trunk and face. Histological examination of sections stained with hematoxylin-eosin and Masson trichromic stain confirmed the diagnosis of leiomyoma. All affected women had also uterine myoma. Conclusion: Our observations support the concept that this entity is an autosomally inherited disorder.

Association of Germline Mutations in the Fumarate Hydratase Gene and Uterine Fibroids in Women With Hereditary Leiomyomatosis and Renal Cell Cancer

“…Almost two-thirds of women who had surgical treatment reported moderate to severe pain before surgery. In our study overall, 73.3% of HLRCC-affected women and 74.4% of FH mut -positive women reported dysmenorrhea and pain, symptoms previously described with uterine fibroids31,32 and at much higher rates than the 20% to 50% reported in the general population 1,3,32…”

UOK 262 cell line, fumarate hydratase deficient (FH−/FH−) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer

“…[15, 29-31] Hereditary leiomyomatosis renal cell carcinoma (HLRCC) is a novel form of inherited kidney cancer in which affected individuals are at risk for the development of cutaneous and uterine leiomyomas and kidney cancer. [1-3] HLRCC is characterized by germline, inactivating mutation of the Krebs cycle enzyme, fumarate hydratase [4], and is unique among kidney cancers in its remarkable propensity to grow quickly and metastasize early. [6] Detection of fumarate hydratase mutation in a high percentage of HLRCC families [4, 13, 32-33] has enabled early identification of disease in at risk individuals, allowing for initiation of therapy when tumors are still small and potentially curable.…”

“…The cutaneous and uterine manifestations [1] and the renal manifestations [2] were described as autosomal dominant conditions in 1995. In 2001 the cutaneous, uterine and renal manifestations were described as a single entity by Launonen, et al and the condition renamed hereditary leiomyomatosis and renal cell carcinoma (HLRCC).…”

Leiomiomatosis cutánea y uterina múltiple o síndrome de Reed

“…El diagnó stico diferencial de los leiomiomas cutá neos, desde el punto de vista clínico, debe establecerse con otros tumores subcutá neos dolorosos, como el dermatofibroma, los tumores neurales (neuroma, neurofibroma, neurilemoma), el angiolipoma, el espiroadenoma, el tumor gló mico, los tumores de cé lulas granulares y el endometrioma 27 . Todas estas lesiones, excepto los neurofibromas, suelen tratarse de lesiones aisladas, a diferencia de los pilolieiomiomas, que suelen estar agrupados.…”