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Melanocytic nevus

MedGen UID:
14364
Concept ID:
C0027962
Neoplastic Process
Synonyms: Beauty mark; Melanocytic naevus; Melanocytic nevi; Nevocellular nevi; Noncancerous mole; Pigmented naevi; Pigmented nevi
SNOMED CT: Melanocytic nevus of skin (400010006); Melanocytic nevus (400096001); Pigmented nevus of skin (400010006); Mole of skin (400010006); Mole (400096001); Pigmented nevus, no ICD-O subtype (21119008); Pigmented nevus, no International Classification of Diseases for Oncology subtype (21119008); Pigmented nevus (21119008); Nevus (21119008); Melanocytic nevus (21119008)
 
OMIM®: 162900
HPO: HP:0000995

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]

Conditions with this feature

Epidermal nevus
MedGen UID:
83106
Concept ID:
C0334082
Disease or Syndrome
Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994). A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, 113800), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994). Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by Ramot and Zlotogorski, 2015). Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012). Also see giant pigmented hairy nevus (137550) and malignant melanoma (155600).
Torticollis keloids cryptorchidism renal dysplasia
MedGen UID:
326819
Concept ID:
C1839129
Disease or Syndrome
Cubitus valgus with mental retardation and unusual facies
MedGen UID:
336943
Concept ID:
C1845450
Disease or Syndrome
Trichoodontoonychial dysplasia
MedGen UID:
376429
Concept ID:
C1848744
Disease or Syndrome
Camptodactyly syndrome Guadalajara type 1
MedGen UID:
395241
Concept ID:
C1859359
Disease or Syndrome
Crouzon syndrome with acanthosis nigricans
MedGen UID:
394201
Concept ID:
C2677099
Disease or Syndrome
The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
Alopecia, neurologic defects, and endocrinopathy syndrome
MedGen UID:
394313
Concept ID:
C2677535
Disease or Syndrome
Hermansky-Pudlak syndrome 1
MedGen UID:
419514
Concept ID:
C2931875
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of 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 easy bruising, frequent 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 are associated primarily with HPS-2.
Acrodysostosis 1 with or without hormone resistance
MedGen UID:
477858
Concept ID:
C3276228
Disease or Syndrome
Acrodysostosis-1 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.
GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES
MedGen UID:
894912
Concept ID:
C4225307
Disease or Syndrome

Recent clinical studies

Etiology

Lalor L, Busam K, Shah K
Pediatr Dermatol 2016 Nov;33(6):e372-e374. Epub 2016 Aug 30 doi: 10.1111/pde.12961. PMID: 27573553
Lai YC, Yew YW
Pediatr Dermatol 2016 Jan-Feb;33(1):62-8. Epub 2015 Dec 8 doi: 10.1111/pde.12730. PMID: 26645992
Tajima S, Koda K
Pathol Int 2015 Jul;65(7):383-7. Epub 2015 Apr 9 doi: 10.1111/pin.12296. PMID: 25855894
Katibi OS, Ogunbiyi A, Brown BJ, Adeyemi OO
Int J Dermatol 2014 Oct;53(10):1241-3. Epub 2014 Sep 10 doi: 10.1111/ijd.12503. PMID: 25209196
Viana AC, Gontijo B, Bittencourt FV
An Bras Dermatol 2013 Nov-Dec;88(6):863-78. doi: 10.1590/abd1806-4841.20132233. PMID: 24474093Free PMC Article

Diagnosis

Volejnikova J, Bajciova V, Sulovska L, Geierova M, Buriankova E, Jarosova M, Hajduch M, Sterba J, Mihal V
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Sep;160(3):456-60. Epub 2016 Apr 1 doi: 10.5507/bp.2016.018. PMID: 27049531
Wang K, Wang Z, Huang W
Dermatol Ther 2016 May;29(3):145-7. Epub 2015 Dec 2 doi: 10.1111/dth.12326. PMID: 26627472
Tajima S, Koda K
Pathol Int 2015 Jul;65(7):383-7. Epub 2015 Apr 9 doi: 10.1111/pin.12296. PMID: 25855894
Viana AC, Gontijo B, Bittencourt FV
An Bras Dermatol 2013 Nov-Dec;88(6):863-78. doi: 10.1590/abd1806-4841.20132233. PMID: 24474093Free PMC Article
Sabater Marco V, Escutia Muñoz B, Morera Faet A, Botella Estrada R
Am J Dermatopathol 2012 Feb;34(1):e10-4. doi: 10.1097/DAD.0b013e3182243a43. PMID: 22262365

Therapy

Lai YC, Yew YW
Pediatr Dermatol 2016 Jan-Feb;33(1):62-8. Epub 2015 Dec 8 doi: 10.1111/pde.12730. PMID: 26645992
Gamo R, Floristan U, Pampín A, Caro D, Pinedo F, López-Estebaranz JL
Actas Dermosifiliogr 2015 Oct;106(8):e41-4. Epub 2015 Jun 18 doi: 10.1016/j.ad.2015.03.007. PMID: 26093995
Lee JM, Kim IH, Rhyu IJ, Ryu HJ
J Cosmet Laser Ther 2015 Jun;17(3):162-4. Epub 2015 Feb 2 doi: 10.3109/14764172.2014.1003244. PMID: 25549812
Wilford CE, Brantley JS, Diwan AH
J Cutan Pathol 2014 Oct;41(10):802-5. doi: 10.1111/j.1600-0560.2012.01824.x. PMID: 25351287
Zeng Y, Zheng YQ
J Dermatolog Treat 2014 Aug;25(4):287-9. Epub 2013 May 21 doi: 10.3109/09546634.2013.789475. PMID: 23534922

Prognosis

Volejnikova J, Bajciova V, Sulovska L, Geierova M, Buriankova E, Jarosova M, Hajduch M, Sterba J, Mihal V
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Sep;160(3):456-60. Epub 2016 Apr 1 doi: 10.5507/bp.2016.018. PMID: 27049531
Lee NR, Chung HC, Hong H, Lee JW, Ahn SK
Am J Dermatopathol 2015 Dec;37(12):e137-9. doi: 10.1097/DAD.0000000000000311. PMID: 26588343Free PMC Article
Magaña M, Sánchez-Romero E, Magaña P, Beck-Magaña A, Magaña-Lozano M
Am J Dermatopathol 2015 Jan;37(1):31-7. doi: 10.1097/DAD.0000000000000183. PMID: 25140664
Katibi OS, Ogunbiyi A, Brown BJ, Adeyemi OO
Int J Dermatol 2014 Oct;53(10):1241-3. Epub 2014 Sep 10 doi: 10.1111/ijd.12503. PMID: 25209196
Heng YK, Ng SK, Tan KB, Lee JS
Am J Dermatopathol 2013 Jun;35(4):486-8. doi: 10.1097/DAD.0b013e318261ea3a. PMID: 22892470

Clinical prediction guides

Lai YC, Yew YW
Pediatr Dermatol 2016 Jan-Feb;33(1):62-8. Epub 2015 Dec 8 doi: 10.1111/pde.12730. PMID: 26645992
Baykal C, Solakoğlu S, Polat Ekinci A, Yazganoğlu KD
Pediatr Dermatol 2015 Jul-Aug;32(4):514-7. Epub 2015 May 4 doi: 10.1111/pde.12610. PMID: 25940669
Uhlenhake EE, Smoller BR, Gardner JM, Shalin SC
J Cutan Pathol 2015 Mar;42(3):213-6. Epub 2014 Dec 23 doi: 10.1111/cup.12451. PMID: 25407962
Magaña M, Sánchez-Romero E, Magaña P, Beck-Magaña A, Magaña-Lozano M
Am J Dermatopathol 2015 Jan;37(1):31-7. doi: 10.1097/DAD.0000000000000183. PMID: 25140664
Kinsler V, Shaw AC, Merks JH, Hennekam RC
Am J Med Genet A 2012 May;158A(5):1014-9. Epub 2012 Mar 21 doi: 10.1002/ajmg.a.34217. PMID: 22438093

Recent systematic reviews

Shachar Y, Billig A, Chapchay K, Elia J, Adler N, Margulis A
J Plast Reconstr Aesthet Surg 2016 Dec;69(12):1676-1682. Epub 2016 Oct 5 doi: 10.1016/j.bjps.2016.08.024. PMID: 27720389
Lai YC, Yew YW
Pediatr Dermatol 2016 Jan-Feb;33(1):62-8. Epub 2015 Dec 8 doi: 10.1111/pde.12730. PMID: 26645992
Su JJ, Chang DK, Mailey B, Gosman A
Ann Plast Surg 2015 May;74 Suppl 1:S57-61. doi: 10.1097/SAP.0000000000000433. PMID: 25664413
Neuhold JC, Friesenhahn J, Gerdes N, Krengel S
Pediatr Dermatol 2015 Jan-Feb;32(1):13-22. Epub 2014 Dec 9 doi: 10.1111/pde.12400. PMID: 25487565
Pižem J, Nicholson KM, Mraz J, Prieto VG
Am J Surg Pathol 2013 Aug;37(8):1182-91. doi: 10.1097/PAS.0b013e31828950a3. PMID: 23715161

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