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Cutaneous leiomyoma

MedGen UID:
87533
Concept ID:
C0346064
Neoplastic Process
Synonyms: cutaneous (skin) leiomyoma; Cutaneous Leiomyoma; cutaneous leiomyoma; Cutaneous leiomyomas; Cutaneous leiomyomata; Leiomyoma cutis; Leiomyoma Cutis; leiomyoma cutis; Leiomyoma of Skin; leiomyoma of skin; Leiomyoma of the Skin; leiomyoma of the skin; leiomyoma of zone of skin; Skin Leiomyoma; skin leiomyoma; zone of skin leiomyoma
SNOMED CT: Cutaneous leiomyoma (254767008); Leiomyoma cutis (254767008)
 
HPO: HP:0007620
Monarch Initiative: MONDO:0003291

Definition

The presence of leiomyoma of the skin. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCutaneous leiomyoma

Conditions with this feature

Fumarase deficiency
MedGen UID:
87458
Concept ID:
C0342770
Disease or Syndrome
Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individuals are microcephalic. A spectrum of brain abnormalities are seen on magnetic resonance imaging, including cerebral atrophy, enlarged ventricles and generous extra-axial cerebral spinal fluid (CSF) spaces, delayed myelination for age, thinning of the corpus callosum, and an abnormally small brain stem. Brain malformations including bilateral polymicrogyria and absence of the corpus callosum can also be observed. Development is severely affected: most affected individuals are nonverbal and nonambulatory, and many die during early childhood. Less severely affected individuals with moderate cognitive impairment and long-term survival have been reported.
Multiple cutaneous leiomyomas
MedGen UID:
353771
Concept ID:
C1708350
Neoplastic Process
FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 30 years, increasing in size and number with age. Uterine leiomyomata tend to be numerous and large; age at diagnosis ranges from 18 to 53 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors are usually unilateral, solitary, and aggressive. They are associated with poor survival due to clinical aggressiveness and propensity to metastasize despite small primary tumor size. The median age of detection is approximately age 40 years.
Birt-Hogg-Dube syndrome 1
MedGen UID:
1051978
Concept ID:
CN375946
Disease or Syndrome
Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.

Professional guidelines

PubMed

Perez-Montiel MD, Plaza JA, Dominguez-Malagon H, Suster S
Am J Dermatopathol 2006 Apr;28(2):105-11. doi: 10.1097/01.dad.0000200009.02939.cc. PMID: 16625070

Recent clinical studies

Etiology

Paolino G, Pampena R, Rizzo N, Di Nicola MR, Mercuri SR
Medicina (Kaunas) 2022 Dec 15;58(12) doi: 10.3390/medicina58121845. PMID: 36557047Free PMC Article
Marcoval J, Llobera-Ris C, Moreno-Vílchez C, Penín RM
Dermatology 2022;238(3):587-593. Epub 2021 Sep 23 doi: 10.1159/000518542. PMID: 34569484
Bailleux S, Somja J, Martin M, De Prijck B, Nikkels AF
Acta Clin Belg 2022 Aug;77(4):778-781. Epub 2021 Sep 13 doi: 10.1080/17843286.2021.1980669. PMID: 34515613
Chayed Z, Kristensen LK, Ousager LB, Rønlund K, Bygum A
Orphanet J Rare Dis 2021 Jan 18;16(1):34. doi: 10.1186/s13023-020-01653-9. PMID: 33461594Free PMC Article
Boyuk E, Saracoğlu ZN, Arık D
Acta Dermatovenerol Croat 2020 Aug;28(2):116. PMID: 32876039

Diagnosis

Marcoval J, Llobera-Ris C, Moreno-Vílchez C, Penín RM
Dermatology 2022;238(3):587-593. Epub 2021 Sep 23 doi: 10.1159/000518542. PMID: 34569484
Chayed Z, Kristensen LK, Ousager LB, Rønlund K, Bygum A
Orphanet J Rare Dis 2021 Jan 18;16(1):34. doi: 10.1186/s13023-020-01653-9. PMID: 33461594Free PMC Article
Ghanadan A, Abbasi A, Kamyab Hesari K
Acta Med Iran 2013;51(1):19-24. PMID: 23456580
Badeloe S, Frank J
Eur J Dermatol 2009 Nov-Dec;19(6):545-51. Epub 2009 Jul 10 doi: 10.1684/ejd.2009.0749. PMID: 19939761
Sahoo B, Radotra BD, Kaur I, Kumar B
J Dermatol 2001 Dec;28(12):759-61. PMID: 11804075

Therapy

Arfan-ul-Bari
J Coll Physicians Surg Pak 2013 Aug;23(8):586-7. PMID: 23930878
Sahoo B, Radotra BD, Kaur I, Kumar B
J Dermatol 2001 Dec;28(12):759-61. PMID: 11804075
Abraham Z, Cohen A, Haim S
Dermatologica 1983;166(5):255-6. doi: 10.1159/000249880. PMID: 6873419

Prognosis

Suda K, Fukuoka H, Yamazaki Y, Shigemura K, Mukai M, Odake Y, Matsumoto R, Bando H, Takahashi M, Iguchi G, Fujisawa M, Oka M, Ono K, Chihara K, Sasano H, Ogawa W, Takahashi Y
J Clin Endocrinol Metab 2020 Jun 1;105(6) doi: 10.1210/clinem/dgaa163. PMID: 32249909
Yoshinaga Y, Nakai H, Hayashi R, Ito A, Kariya N, Ito M, Shimomura Y
J Dermatol 2016 Jan;43(1):85-91. Epub 2015 Jul 15 doi: 10.1111/1346-8138.13019. PMID: 26173633
Ezgu F, Krejci P, Wilcox WR
Gene 2013 Jul 25;524(2):403-6. Epub 2013 Apr 20 doi: 10.1016/j.gene.2013.03.026. PMID: 23612258
Ghanadan A, Abbasi A, Kamyab Hesari K
Acta Med Iran 2013;51(1):19-24. PMID: 23456580
Matthews JH, Pichardo RO, Hitchcock MG, Leshin B
Dermatol Surg 2004 Sep;30(9):1249-51; discussion 1251. doi: 10.1111/j.1524-4725.2004.30386.x. PMID: 15355371

Clinical prediction guides

Zhang H, Zhao H, Yang G, Li Y, Liu Y
Gerontology 2022;68(8):854-860. Epub 2021 Oct 4 doi: 10.1159/000519227. PMID: 34607327
Seo JY, Ahn JY, Keam B, Kim M, Yoon S, Lee JL, Park K, Park I
Ann Lab Med 2021 Mar 1;41(2):207-213. doi: 10.3343/alm.2021.41.2.207. PMID: 33063682Free PMC Article
Boyuk E, Saracoğlu ZN, Arık D
Acta Dermatovenerol Croat 2020 Aug;28(2):116. PMID: 32876039
Ghanadan A, Abbasi A, Kamyab Hesari K
Acta Med Iran 2013;51(1):19-24. PMID: 23456580
Fernández-Pugnaire MA, Delgado-Florencio V
Dermatology 1995;191(4):295-8. doi: 10.1159/000246578. PMID: 8573925

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