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Melanocytic nevus

MedGen UID:
14364
Concept ID:
C0027962
Neoplastic Process
Synonyms: Melanocytic Nevi; Melanocytic Nevus; Nevi, Melanocytic; Nevi, Pigmented; Nevus, Melanocytic; Nevus, Pigmented; Pigmented Moles; Pigmented Nevi; Pigmented Nevus
SNOMED CT: Melanocytic nevus (400096001); Mole (400096001)
 
Related genes: NRAS, HRAS
 
HPO: HP:0000995
Monarch Initiative: MONDO:0005073

Definition

A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Conditions with this feature

Weaver syndrome
MedGen UID:
120511
Concept ID:
C0265210
Disease or Syndrome
EZH2-related overgrowth includes EZH2-related Weaver syndrome at one end of the spectrum and tall stature at the other. Although most individuals diagnosed with a heterozygous EZH2 pathogenic variant have been identified because of a clinical suspicion of Weaver syndrome, a minority have been identified through molecular genetic testing of family members of probands or individuals with overgrowth who did not have a clinical diagnosis of Weaver syndrome. Thus, the extent of the phenotypic spectrum associated with a heterozygous EZH2 pathogenic variant is not yet known. Weaver syndrome is characterized by tall stature, variable intellect (ranging from normal intellect to severe intellectual disability), characteristic facial appearance, and a range of associated clinical features including advanced bone age, poor coordination, soft doughy skin, camptodactyly of the fingers and/or toes, umbilical hernia, abnormal tone, and hoarse low cry in infancy. Brain MRI has identified abnormalities in a few individuals with EZH2-related overgrowth. Neuroblastoma occurs at a slightly increased frequency in individuals with a heterozygous EZH2 pathogenic variant but data are insufficient to determine absolute risk. There is currently no evidence that additional malignancies (including hematologic malignancies) occur with increased frequency.
Marshall-Smith syndrome
MedGen UID:
75551
Concept ID:
C0265211
Disease or Syndrome
The Marshall-Smith syndrome (MRSHSS) is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005).
Epidermal nevus
MedGen UID:
83106
Concept ID:
C0334082
Disease or Syndrome
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
MedGen UID:
326819
Concept ID:
C1839129
Disease or Syndrome
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.
Crouzon syndrome-acanthosis nigricans syndrome
MedGen UID:
394201
Concept ID:
C2677099
Disease or Syndrome
Crouzon syndrome with acanthosis nigricans is considered to be a distinct disorder from classic Crouzon syndrome (123500), which is caused by mutation in the FGFR2 gene (176943). Cohen (1999) argued that this condition is separate from Crouzon syndrome for 2 main reasons: it is caused by a highly specific mutation of the FGFR3 gene, whereas multiple different FGFR2 mutations result in Crouzon syndrome, and the phenotypes are different.
ANE syndrome
MedGen UID:
394313
Concept ID:
C2677535
Disease or Syndrome
Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) is an autosomal recessive disorder characterized by alopecia with skin involvement including multiple facial nevi and flexural hyperpigmentation; moderately to severely impaired intellectual development; progressive motor decline; and endocrine deficiency (summary by Spiegel et al., 2010).
Hermansky-Pudlak syndrome 1
MedGen UID:
419514
Concept ID:
C2931875
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Acrodysostosis 1 with or without hormone resistance
MedGen UID:
477858
Concept ID:
C3276228
Disease or Syndrome
Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of Acrodysostosis See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12.
Silver-Russell syndrome 3
MedGen UID:
894912
Concept ID:
C4225307
Disease or Syndrome
Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay (Begemann et al., 2015; Yamoto et al., 2017). For a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 (180860).
Progeroid and marfanoid aspect-lipodystrophy syndrome
MedGen UID:
934763
Concept ID:
C4310796
Disease or Syndrome
The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013). Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212).
Cohen-Gibson syndrome
MedGen UID:
1386939
Concept ID:
C4479654
Disease or Syndrome
EED-related overgrowth is characterized by fetal or early childhood overgrowth (tall stature, macrocephaly, large hands and feet, and advanced bone age) and intellectual disability that ranges from mild to severe. To date, EED-related overgrowth has been reported in eight individuals.
Turnpenny-fry syndrome
MedGen UID:
1683283
Concept ID:
C5193060
Disease or Syndrome
Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations (Turnpenny et al., 2018).
Imagawa-Matsumoto syndrome
MedGen UID:
1711007
Concept ID:
C5394073
Disease or Syndrome
Imagawa-Matsumoto syndrome (IMMAS) is characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities. Developmental delay and impaired intellectual development are common, whereas abnormalities of cerebral imaging are uncommon but may be significant. Some patients exhibit genitourinary abnormalities, and respiratory issues have been reported (Cyrus et al., 2019).
Hermansky-Pudlak syndrome 11
MedGen UID:
1727728
Concept ID:
C5436936
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
MedGen UID:
1801270
Concept ID:
C5677056
Disease or Syndrome
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked <i>cubitus valgus</i>, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.

Professional guidelines

PubMed

Farabi B, Khan S, Jamgochian M, Atak MF, Jain M, Rao BK
J Cosmet Dermatol 2023 Dec;22(12):3213-3222. Epub 2023 Sep 27 doi: 10.1111/jocd.15827. PMID: 37759421
Awad SS, Abdel Aziz RT, Mohammed SS
J Cosmet Laser Ther 2019;21(2):118-121. Epub 2018 May 9 doi: 10.1080/14764172.2018.1469772. PMID: 29741410
Nakamura Y, Fujisawa Y
Curr Treat Options Oncol 2018 Jun 27;19(8):42. doi: 10.1007/s11864-018-0560-y. PMID: 29951919

Recent clinical studies

Etiology

Alos L, Carrasco A, Teixidó C, Szumera-Ciećkiewicz A, Vicente A, Massi D, Carrera C
Pathol Res Pract 2024 Apr;256:155262. Epub 2024 Mar 11 doi: 10.1016/j.prp.2024.155262. PMID: 38518732
Choi YS, Erlich TH, von Franque M, Rachmin I, Flesher JL, Schiferle EB, Zhang Y, Pereira da Silva M, Jiang A, Dobry AS, Su M, Germana S, Lacher S, Freund O, Feder E, Cortez JL, Ryu S, Babila Propp T, Samuels YL, Zakka LR, Azin M, Burd CE, Sharpless NE, Liu XS, Meyer C, Austen WG Jr, Bojovic B, Cetrulo CL Jr, Mihm MC, Hoon DS, Demehri S, Hawryluk EB, Fisher DE
Cell 2022 Jun 9;185(12):2071-2085.e12. Epub 2022 May 12 doi: 10.1016/j.cell.2022.04.025. PMID: 35561684Free PMC Article
Toussi A, Mans N, Welborn J, Kiuru M
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Yang C, Gru AA, Dehner LP
Pediatr Dev Pathol 2018 Mar-Apr;21(2):252-270. doi: 10.1177/1093526617751720. PMID: 29607755
Islam MP
Handb Clin Neurol 2015;132:111-7. doi: 10.1016/B978-0-444-62702-5.00007-X. PMID: 26564074

Diagnosis

Brown A, Sawyer JD, Neumeister MW
Clin Plast Surg 2021 Oct;48(4):677-686. Epub 2021 Aug 18 doi: 10.1016/j.cps.2021.06.002. PMID: 34503728
Yang C, Gru AA, Dehner LP
Pediatr Dev Pathol 2018 Mar-Apr;21(2):252-270. doi: 10.1177/1093526617751720. PMID: 29607755
Islam MP
Handb Clin Neurol 2015;132:111-7. doi: 10.1016/B978-0-444-62702-5.00007-X. PMID: 26564074
Busam KJ
Clin Lab Med 2011 Jun;31(2):321-30. doi: 10.1016/j.cll.2011.03.009. PMID: 21549245
Vaidya DC, Schwartz RA, Janniger CK
Cutis 2007 Dec;80(6):465-8. PMID: 18246877

Therapy

Lim YH, Ovejero D, Derrick KM; Yale Center for Mendelian Genomics, Collins MT, Choate KA
J Am Acad Dermatol 2016 Aug;75(2):420-7. doi: 10.1016/j.jaad.2015.11.012. PMID: 27444071Free PMC Article
Lai YC, Yew YW
Pediatr Dermatol 2016 Jan-Feb;33(1):62-8. Epub 2015 Dec 8 doi: 10.1111/pde.12730. PMID: 26645992
Shah VV, Bray FN, Aldahan AS, Mlacker S, Nouri K
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Hawryluk EB, Liang MG
Pediatr Clin North Am 2014 Apr;61(2):279-91. Epub 2014 Jan 28 doi: 10.1016/j.pcl.2013.11.004. PMID: 24636646
Hashimoto K, Amano M, Setoyama M
J Dermatol 2012 Nov;39(11):909-15. Epub 2012 Jul 4 doi: 10.1111/j.1346-8138.2012.01599.x. PMID: 22762690

Prognosis

Alos L, Carrasco A, Teixidó C, Szumera-Ciećkiewicz A, Vicente A, Massi D, Carrera C
Pathol Res Pract 2024 Apr;256:155262. Epub 2024 Mar 11 doi: 10.1016/j.prp.2024.155262. PMID: 38518732
Brown A, Sawyer JD, Neumeister MW
Clin Plast Surg 2021 Oct;48(4):677-686. Epub 2021 Aug 18 doi: 10.1016/j.cps.2021.06.002. PMID: 34503728
Yang C, Gru AA, Dehner LP
Pediatr Dev Pathol 2018 Mar-Apr;21(2):252-270. doi: 10.1177/1093526617751720. PMID: 29607755
Islam MP
Handb Clin Neurol 2015;132:111-7. doi: 10.1016/B978-0-444-62702-5.00007-X. PMID: 26564074
Busam KJ
Clin Lab Med 2011 Jun;31(2):321-30. doi: 10.1016/j.cll.2011.03.009. PMID: 21549245

Clinical prediction guides

Zhang LW, Li Y, Wang WJ, Fu LX, Nie J, Lu YH, Chen T, Xu RH
Eur J Dermatol 2023 Jun 1;33(3):255-259. doi: 10.1684/ejd.2023.4481. PMID: 37594332
Proffer SL, Guo R, Demer AM, Peters MS
Hum Pathol 2023 Nov;141:110-117. Epub 2023 Aug 12 doi: 10.1016/j.humpath.2023.08.001. PMID: 37574050
Brown A, Sawyer JD, Neumeister MW
Clin Plast Surg 2021 Oct;48(4):677-686. Epub 2021 Aug 18 doi: 10.1016/j.cps.2021.06.002. PMID: 34503728
Crompton JG, Busam KJ, Bartlett EK
Surg Oncol Clin N Am 2020 Jul;29(3):327-338. doi: 10.1016/j.soc.2020.02.013. PMID: 32482311
Damsky WE, Bosenberg M
Oncogene 2017 Oct 19;36(42):5771-5792. Epub 2017 Jun 12 doi: 10.1038/onc.2017.189. PMID: 28604751Free PMC Article

Recent systematic reviews

Camargo CP, Saliba M, Saad EA, Milan M, Caldera JM
Acta Cir Bras 2023;38:e384823. Epub 2023 Dec 1 doi: 10.1590/acb384823. PMID: 38055392Free PMC Article
Gout HA, Fledderus AC, Lokhorst MM, Pasmans SGMA, Breugem CC, Lapid O, van der Horst CMAM
J Plast Reconstr Aesthet Surg 2023 Feb;77:430-455. Epub 2022 Nov 21 doi: 10.1016/j.bjps.2022.10.048. PMID: 36652871
Litaiem N, Chabchoub I, Bacha T, Slouma M, Zeglaoui F, Khachemoune A
Photodermatol Photoimmunol Photomed 2020 Sep;36(5):339-350. Epub 2020 Jul 24 doi: 10.1111/phpp.12590. PMID: 32645757
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Epilepsy Behav 2020 Jun;107:107061. Epub 2020 Apr 6 doi: 10.1016/j.yebeh.2020.107061. PMID: 32272368
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