Familial Leiomyomatosis: A Review and Discussion of Pathogenesis

Abstract

Multiple cutaneous leiomyomas of pilar origin have long been recognized to have an autosomal dominant inheritance. While the skin tumors are relatively uncommon and benign, women of affected families often develop uterine fibroids with associated infertility, pain and bleeding. In addition, a subset of these families harbors a predisposition to papillary renal cell carcinoma. Germline mutations in a recently identified classical tumor suppressor gene encoding fumarate hydratase are observed in these individuals. Appropriate screening measures for associated disorders are mandatory.

Type 2 Segmental Manifestation of Cutaneous Leiomyomatosis in Four Unrelated Women with Additional Uterine Leiomyomas (Reed’s Syndrome)

“…Thus, affected women should be informed about the disease and should undergo regular examinations for uterine leiomyomas. As leiomyomatosis can be associated with papillary renal cell carcinoma, all patients with a family history of cutaneous leiomyomas and uterine fi broids should be questioned regarding renal function and symptoms of renal disease [18] . The US National Cancer Institute recommends to screen all patients with leiomyomatosis with a computed tomographic scan to detect early renal cell carcinoma [18] .…”

“…In some Reed's syndrome families, the disease is associated with an additional predisposition to type 2 papillary renal cell carcinoma (hereditary leiomyomatosis with renal cell cancer, MIM No. 605939) [8] also caused by germline mutations in the FH gene [5,9,10,18] .…”

A Case of Reed's Syndrome: An Underdiagnosed Tumor Disorder

“…Clinically, they occur as small, smooth-surfaced, skin-colored or pinkish-brown, solitary and/or multiple papules or nodules that range from 0.2 to 2.0 cm in diameter [3]. Cutaneous leiomyomas are divided into three categories: piloleiomyomas arising from the arrector pili muscle of the hair follicle, genital leiomyomas emerging from the tunica dartos of the scrotum and the mammary muscles of the nipples, and angioleiomyomas originating from vascular smooth muscle [4, 5].…”

Leiomiomatosis cutánea y uterina múltiple o síndrome de Reed

“…1 y 2). Pueden ser aisladas o mú ltiples, distribuyé ndose de forma agrupada o dispersa 13 . Cuando se agrupan es frecuente que sea de forma segmentaria, pudiendo ser lineal, arqueada, zosteriforme siguiendo un dermatoma, o siguiendo las líneas de Blaschko (figs.…”

“…Aunque pueden ser asintomá ticos, lo má s frecuente es que sean dolorosos 6,11 , sobre todo como respuesta al tacto, presió n, cambios de temperatura o estré s 13 . La etiología del dolor no está clara, pero se piensa que podría ser debido a la contracció n del mú sculo liso, o a la compresió n o invasió n de fibras nerviosas dentro de la lesió n, o al aumento de fibras nerviosas dentro de los tumores 13,18 . El diagnó stico de confirmació n es histoló gico, caracterizá ndose por una lesió n mal delimitada, no encapsulada, que infiltra todo el grosor de la dermis pudiendo llegar hasta el tejido subcutá neo.…”