Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset

Abstract

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance.

Piloleiomyoma

“…CLs were first described by Virchow in 1854, and account for nearly 5% of all leiomyomas 2 . The most common type of CL in Caucasians is PLM, which arises from the arrector pili muscle of the pilosebaceous unit.…”

“…The association between CLs and an inherited susceptibility to renal cancer was first recognized in 2001. PLMs are the most common type of leiomyomas seen in hereditary leiomyomatosis and renal cell cancer syndrome 2 . At-risk members of families with hereditary leiomyomatosis and renal cell cancer syndrome who test positive for the family's germline fumarate hydratase mutation should undergo annual MRI surveillance beginning at the age of 8 years 2 …”

Reed syndrome: A case report and dermatoscopic features

“…Hereditary leiomyomatosis and renal cell carcinoma, or Reed syndrome, is an autosomal disorder, due to a genetic mutation on chromosome 1 of the fumarate hydratase enzyme 1. Cutaneous leiomyomas are the result of a benign proliferation of smooth muscle cells that results in pink or red firm papules and nodules.…”

“…Extremities and trunk are the most frequent sites of occurrence, and these lesions are typically painful at palpation.Leiomyomas are often the first clinical manifestation of the syndrome, with an early onset among patients aged 20 years 2. Frequently, they are piloleiomyomas, which derive from the piloerector muscle 1. Other studies in literature report genital leiomyomas, from dartos muscle, and angioleiomyomas, from vascular smooth muscle cell 3.…”

“…Other studies in literature report genital leiomyomas, from dartos muscle, and angioleiomyomas, from vascular smooth muscle cell 3. Uterine myomas are frequently found in female patients withReed syndrome and are presented as one or more lesions that can cause symptoms, such as pain and dysmenorrhea.Renal cell carcinoma is less frequent, with a reported incidence of about 20%-30% 1,4. Often solitary, monolateral, and aggressive, it is often a type II papillary tumor.The Reed syndrome is the result of mutation of gene that encodes for fumarate hydratase enzyme which converts fumarate in malate in the Krebs cycle.…”