Leiomyoma Clinical Presentation

  • Author: Kyle L Horner; Chief Editor: William D James, MD   more...
 
Updated: Jan 12, 2012
 

History

  • 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.[6]
  • Many solitary piloleiomyomas are similarly symptomatic.
  • About 60% of angioleiomyomas are symptomatic.[7] Pain in angioleiomyomas may be due to nerve fibers in the stroma or wall of the tumors or perhaps due to the contraction of blood vessels with local ischemia.[6]
  • 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 mamillary muscles in the genital region or on the nipple.[8]
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Physical

  • 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. These multiple hyperpigmented nodules are piloleioThese multiple hyperpigmented nodules are piloleiomyomas on an upper extremity. Upon closer inspection, one can appreciate that thUpon closer inspection, one can appreciate that these piloleiomyomas are superficial dermal nodules.
  • 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.[4, 9, 10]
    • 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.
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Causes

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,[11] 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.[12]
  • 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.[13] Uterine leiomyomas not associated with skin leiomyomas were associated with the G354R FH mutation.
  • Cutaneous manifestations of HLRCC range from absent to severe cutaneous leiomyomas. Wei et al[14] have so far identified 31 different germline FH mutations in 56 families with HLRCC. Six additional FH mutations have been described among Dutch and Spanish families with MCUL.[15]
  • A 2006 report described a unique clonal translocation (7;8)(p13;q11.2) in a leiomyoma of the vulva.[16]
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Contributor Information and Disclosures
Author

Kyle L Horner  MD, MS, Staff Physician, Silver Falls Dermatology, Corvallis, OR

Kyle L Horner is a member of the following medical societies: American Academy of Dermatology, American College of Mohs Surgery, and American Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Gregory J Raugi, MD, PhD  Professor, Department of Internal Medicine, Division of Dermatology, University of Washington at Seattle School of Medicine; Chief, Dermatology Section, Primary and Specialty Care Service, Veterans Administration Medical Center of Seattle

Gregory J Raugi, MD, PhD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Marion C Miethke, MD  Clinical Assistant Professor, Department of Internal Medicine, Section of Dermatology, University of Washington

Marion C Miethke, MD is a member of the following medical societies: Phi Beta Kappa

Disclosure: Nothing to disclose.

Specialty Editor Board

Carrie L Kovarik, MD  Assistant Professor of Dermatology, Dermatopathology, and Infectious Diseases, University of Pennsylvania School of Medicine

Carrie L Kovarik, MD is a member of the following medical societies: Alpha Omega Alpha

Disclosure: Nothing to disclose.

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Rosalie Elenitsas, MD  Herman Beerman Associate Professor of Dermatology, University of Pennsylvania School of Medicine; Director, Penn Cutaneous Pathology Services, Department of Dermatology, University of Pennsylvania Health System

Rosalie Elenitsas, MD is a member of the following medical societies: American Academy of Dermatology and American Society of Dermatopathology

Disclosure: Lippincott Williams Wilkins Royalty Textbook editor; DLA Piper Consulting fee Consulting

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD  Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

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These multiple hyperpigmented nodules are piloleiomyomas on an upper extremity.
Upon closer inspection, one can appreciate that these piloleiomyomas are superficial dermal nodules.
 
 
 
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