Leiomyoma Clinical Presentation
- Author: Kyle L Horner, MD, MS; Chief Editor: William D James, MD more...
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- The most common feature in patients with multiple piloleiomyomas is pain.
- Pain can be spontaneous or induced by cold or tactile (eg, pressure) stimuli.
- The pain or tenderness may be secondary to pressure on nerve fibers within the tumor; however, some authors believe it may be solely due to contraction of muscle fibers.
- Many solitary piloleiomyomas are similarly symptomatic.
- In addition to the previously described trigger factors (ie, temperature and pressure), symptoms are also reported to occur with menses or pregnancy.
- Genital leiomyomas are usually asymptomatic solitary lesions arising from the dartoic, vulvar, or mammillary muscles in the genital region or on the nipple.
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- Individual piloleiomyomas are smooth, firm papules or nodules, usually smaller than 2 cm in diameter, and reddish brown. Many are tender to palpation.
- Multiple piloleiomyomas can occur on the face, trunk, or extremities. Various distribution patterns are reported, including bilaterally symmetric, grouped, dermatomal, and linear patterns.
- A solitary piloleiomyoma is usually found on a lower extremity.
- Because piloleiomyomas develop in the superficial dermis, they are fixed in the skin. However, they can be easily moved over the deeper subcutaneous tissues.
- Angioleiomyomas are usually well-defined, fairly deep dermal nodules that are smaller than 4 cm.
- Pain to palpation is not uncommon.
- Angioleiomyomas are generally solitary and occur predominantly on the lower extremities, less commonly on the head or trunk, and rarely on the hands or in the mouth.[3, 4, 5]
- The most common clinical presentation of an angioleiomyoma is that of a solitary skin-colored nodule.
- Leiomyomas of the vulva or scrotum may be larger than those already described above. Leiomyomas of the nipple and piloleiomyomas are generally similar in size.
Recent research has revealed the location of the gene for transmission of dominantly inherited, multiple cutaneous piloleiomyomas associated with uterine leiomyomas in female family members.
- The gene was linked to band 1q42.3-q43. Haplotype construction and recombination analysis narrowed the locus to an approximately 14-centromere interval located between D1S517 on the centromeric side and D1S2842 on the telomeric side.
- As reported by Alam et al, the locus is named MCUL1 for multiple cutaneous and uterine leiomyomata 1.
- Studies of an extended family narrowed the locus further to a region of 4.55-7.17 centromere on chromosome 1. This gene encodes for fumarate hydratase (FH), an enzyme of the tricarboxylic acid cycle, which acts as a tumor suppressor. In families with multiple cutaneous and uterine leiomyomata (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC), FH missense mutations often occurred in fully conserved residues and in residues functioning in the substrate binding A-site, substrate-binding B-site, or subunit-interacting region. All missense mutations in these families were associated with decreased enzyme activity, suggesting that the tumor suppressor role of FH is related to its enzymatic activity.
- A study of 108 affected individuals, including 46 probands and 62 affected relatives revealed that highly penetrant FH mutations underlie MCUL. Of women with FH mutations, 69% had both skin and uterine leiomyomas, 15% had only skin leiomyomas, and 7% had only uterine leiomyomas. Uterine leiomyomas not associated with skin leiomyomas were associated with the G354R FH mutation.
- A 2006 report described a unique clonal translocation (7;8)(p13;q11.2) in a leiomyoma of the vulva.
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