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Nevus

MedGen UID:
45074
Concept ID:
C0027960
Neoplastic Process
Synonyms: Mole; Naevi; Naevus; Nevi
SNOMED CT: Skin mole (51697005)
 
HPO: HP:0003764

Definition

A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin. [from MeSH]

Conditions with this feature

Langer-Giedion syndrome
MedGen UID:
6009
Concept ID:
C0023003
Disease or Syndrome
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability.
Vitiligo
MedGen UID:
22677
Concept ID:
C0042900
Disease or Syndrome
Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. It tends to progress over time, with larger areas of the skin losing pigment. Some people with vitiligo also have patches of pigment loss affecting the hair on their scalp or body.Researchers have identified several forms of vitiligo. Generalized vitiligo (also called nonsegmental vitiligo), which is the most common form, involves loss of pigment (depigmentation) in patches of skin all over the body. Depigmentation typically occurs on the face, neck, and scalp, and around body openings such as the mouth and genitals. Sometimes pigment is lost in mucous membranes, such as the lips. Loss of pigmentation is also frequently seen in areas that tend to experience rubbing, impact, or other trauma, such as the hands, arms, and places where bones are close to the skin surface (bony prominences). Another form called segmental vitiligo is associated with smaller patches of depigmented skin that appear on one side of the body in a limited area; this occurs in about 10 percent of affected individuals.Vitiligo is generally considered to be an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. In people with vitiligo the immune system appears to attack the pigment cells (melanocytes) in the skin. About 15 to 25 percent of people with vitiligo are also affected by at least one other autoimmune disorder, particularly autoimmune thyroid disease, rheumatoid arthritis, type 1 diabetes, psoriasis, pernicious anemia, Addison disease, or systemic lupus erythematosus.In the absence of other autoimmune conditions, vitiligo does not affect general health or physical functioning. However, concerns about appearance and ethnic identity are significant issues for many affected individuals.
Proteus syndrome
MedGen UID:
39008
Concept ID:
C0085261
Neoplastic Process
Proteus syndrome is characterized by progressive, segmental or patchy overgrowth of diverse tissues of all germ layers, most commonly affecting the skeleton, skin, and adipose and central nervous systems. In most individuals Proteus syndrome has minimal or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism.
Elastosis perforans serpiginosa
MedGen UID:
65137
Concept ID:
C0221271
Disease or Syndrome
Dermatofibrosis lenticularis disseminata
MedGen UID:
120545
Concept ID:
C0265514
Disease or Syndrome
Buschke-Ollendorff syndrome is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009).
Nevus anemicus
MedGen UID:
82725
Concept ID:
C0265982
Congenital Abnormality
A capillary vascular anomaly that is characterized by hypopigmented macules.
Follicular atrophoderma and basal cell epitheliomata
MedGen UID:
87539
Concept ID:
C0346104
Neoplastic Process
Bazex syndrome is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance.
Mulibrey nanism syndrome
MedGen UID:
99347
Concept ID:
C0524582
Disease or Syndrome
Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006).
Costello syndrome
MedGen UID:
108454
Concept ID:
C0587248
Disease or Syndrome
Costello syndrome is characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy [HCM]), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
Faciocardiorenal syndrome
MedGen UID:
208649
Concept ID:
C0795936
Disease or Syndrome
A syndrome of characteristic facies, horseshoe kidney, congenital heart defect, and delayed mental and physical development.
Becker nevus syndrome
MedGen UID:
347608
Concept ID:
C1858042
Disease or Syndrome
Carney complex, type 1
MedGen UID:
388559
Concept ID:
C2607929
Disease or Syndrome
Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and manifest as intracardiac obstruction of blood flow, embolic phenomena, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in almost all adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.
Camptodactyly syndrome Guadalajara type 3
MedGen UID:
394371
Concept ID:
C2677809
Disease or Syndrome

Recent clinical studies

Etiology

Taylor NJ, Mitra N, Goldstein AM, Tucker MA, Avril MF, Azizi E, Bergman W, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon-Albright LA, Cuellar F, Cust AE, Demenais F, Elder DE, Gerdes AM, Ghiorzo P, Grazziotin TC, Hansson J, Harland M, Hayward NK, Hocevar M, Höiom V, Ingvar C, Landi MT, Landman G, Larre-Borges A, Leachman SA, Mann GJ, Nagore E, Olsson H, Palmer JM, Perić B, Pjanova D, Pritchard A, Puig S, van der Stoep N, Wadt KAW, Whitaker L, Yang XR, Newton Bishop JA, Gruis NA, Kanetsky PA; GenoMEL Study Group.
J Invest Dermatol 2017 Dec;137(12):2606-2612. Epub 2017 Aug 19 doi: 10.1016/j.jid.2017.07.829. PMID: 28830827Free PMC Article
Taylor LA, O'Day C, Dentchev T, Hood K, Chu EY, Ridky TW, Seykora JT
Am J Pathol 2016 Dec;186(12):3094-3099. Epub 2016 Nov 14 doi: 10.1016/j.ajpath.2016.08.009. PMID: 27855847Free PMC Article
Aksu Çerman A, Aktaş E, Kıvanç Altunay IK, Demirkesen C
Acta Dermatovenerol Croat 2016 Jun;24(2):148-9. PMID: 27477177
Truong A, Strazzulla L, March J, Boucher KM, Nelson KC, Kim CC, Grossman D
J Am Acad Dermatol 2016 Jul;75(1):135-143.e5. Epub 2016 Mar 3 doi: 10.1016/j.jaad.2016.02.1152. PMID: 26947450
Ribero S, Davies JR, Requena C, Carrera C, Glass D, Rull R, Vidal-Sicart S, Vilalta A, Alos L, Soriano V, Quaglino P, Traves V, Newton-Bishop JA, Nagore E, Malvehy J, Puig S, Bataille V
Int J Cancer 2015 Oct 1;137(7):1691-8. Epub 2015 Apr 11 doi: 10.1002/ijc.29525. PMID: 25809795Free PMC Article

Diagnosis

Sheen YS, Liao YH, Lin MH, Chen JS, Liau JY, Liang CW, Chang YL, Chu CY
PLoS One 2017;12(5):e0177126. Epub 2017 May 4 doi: 10.1371/journal.pone.0177126. PMID: 28472158Free PMC Article
Taylor LA, O'Day C, Dentchev T, Hood K, Chu EY, Ridky TW, Seykora JT
Am J Pathol 2016 Dec;186(12):3094-3099. Epub 2016 Nov 14 doi: 10.1016/j.ajpath.2016.08.009. PMID: 27855847Free PMC Article
Aksu Çerman A, Aktaş E, Kıvanç Altunay IK, Demirkesen C
Acta Dermatovenerol Croat 2016 Jun;24(2):148-9. PMID: 27477177
Luna PC, Pannizardi AA, Martin CI, Vigovich F, Casas JG, Larralde M
Pediatr Dermatol 2016 May;33(3):296-300. Epub 2016 Mar 4 doi: 10.1111/pde.12800. PMID: 26939784
Wong JG, Lai XJ, Sarafian RY, Wong HS, Smith JB
Retin Cases Brief Rep 2016 Summer;10(3):221-4. doi: 10.1097/ICB.0000000000000233. PMID: 26509999

Therapy

Taylor LA, O'Day C, Dentchev T, Hood K, Chu EY, Ridky TW, Seykora JT
Am J Pathol 2016 Dec;186(12):3094-3099. Epub 2016 Nov 14 doi: 10.1016/j.ajpath.2016.08.009. PMID: 27855847Free PMC Article
Luna PC, Pannizardi AA, Martin CI, Vigovich F, Casas JG, Larralde M
Pediatr Dermatol 2016 May;33(3):296-300. Epub 2016 Mar 4 doi: 10.1111/pde.12800. PMID: 26939784
Juhl M, Pappo E, Bain M
Dermatol Online J 2015 Aug 15;21(8) PMID: 26437169
Shitara D, Nascimento MM, Puig S, Yamada S, Enokihara MM, Michalany N, Bagatin E
Am J Clin Pathol 2014 Oct;142(4):485-91. doi: 10.1309/AJCP4L5CJGKTJVDD. PMID: 25239415
Lapidoth M, Adatto M, Cohen S, Ben-Amitai D, Halachmi S
Lasers Med Sci 2014 Jan;29(1):191-3. Epub 2013 Apr 5 doi: 10.1007/s10103-013-1314-5. PMID: 23558435

Prognosis

Sheen YS, Liao YH, Lin MH, Chen JS, Liau JY, Liang CW, Chang YL, Chu CY
PLoS One 2017;12(5):e0177126. Epub 2017 May 4 doi: 10.1371/journal.pone.0177126. PMID: 28472158Free PMC Article
Luna PC, Pannizardi AA, Martin CI, Vigovich F, Casas JG, Larralde M
Pediatr Dermatol 2016 May;33(3):296-300. Epub 2016 Mar 4 doi: 10.1111/pde.12800. PMID: 26939784
Sieburth RM, Qiu M, Shields CL
Invest Ophthalmol Vis Sci 2015 Nov;56(12):7489-95. doi: 10.1167/iovs.15-17803. PMID: 26595609
Flores-Sarnat L, Sarnat HB
Handb Clin Neurol 2015;132:9-25. doi: 10.1016/B978-0-444-62702-5.00002-0. PMID: 26564069
Ribero S, Davies JR, Requena C, Carrera C, Glass D, Rull R, Vidal-Sicart S, Vilalta A, Alos L, Soriano V, Quaglino P, Traves V, Newton-Bishop JA, Nagore E, Malvehy J, Puig S, Bataille V
Int J Cancer 2015 Oct 1;137(7):1691-8. Epub 2015 Apr 11 doi: 10.1002/ijc.29525. PMID: 25809795Free PMC Article

Clinical prediction guides

Sheen YS, Liao YH, Lin MH, Chen JS, Liau JY, Liang CW, Chang YL, Chu CY
PLoS One 2017;12(5):e0177126. Epub 2017 May 4 doi: 10.1371/journal.pone.0177126. PMID: 28472158Free PMC Article
Taylor LA, O'Day C, Dentchev T, Hood K, Chu EY, Ridky TW, Seykora JT
Am J Pathol 2016 Dec;186(12):3094-3099. Epub 2016 Nov 14 doi: 10.1016/j.ajpath.2016.08.009. PMID: 27855847Free PMC Article
Morimoto N, Jinno C, Mahara A, Sakamoto M, Kakudo N, Inoie M, Fujisato T, Suzuki S, Kusumoto K, Yamaoka T
Biomed Res Int 2016;2016:1320909. Epub 2016 Sep 26 doi: 10.1155/2016/1320909. PMID: 27747221Free PMC Article
Sieburth RM, Qiu M, Shields CL
Invest Ophthalmol Vis Sci 2015 Nov;56(12):7489-95. doi: 10.1167/iovs.15-17803. PMID: 26595609
Ribero S, Davies JR, Requena C, Carrera C, Glass D, Rull R, Vidal-Sicart S, Vilalta A, Alos L, Soriano V, Quaglino P, Traves V, Newton-Bishop JA, Nagore E, Malvehy J, Puig S, Bataille V
Int J Cancer 2015 Oct 1;137(7):1691-8. Epub 2015 Apr 11 doi: 10.1002/ijc.29525. PMID: 25809795Free PMC Article

Recent systematic reviews

Pampena R, Kyrgidis A, Lallas A, Moscarella E, Argenziano G, Longo C
J Am Acad Dermatol 2017 Nov;77(5):938-945.e4. Epub 2017 Aug 29 doi: 10.1016/j.jaad.2017.06.149. PMID: 28864306
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
Lin WM, Luo S, Muzikansky A, Lobo AZ, Tanabe KK, Sober AJ, Cosimi AB, Tsao H, Duncan LM
J Am Acad Dermatol 2015 Jan;72(1):54-8. Epub 2014 Oct 18 doi: 10.1016/j.jaad.2014.09.028. PMID: 25440436
Desai SC, Walen S, Holds JB, Branham G
Am J Otolaryngol 2013 May-Jun;34(3):223-9. Epub 2013 Feb 4 doi: 10.1016/j.amjoto.2013.01.004. PMID: 23380310
Chepla KJ, Gosain AK
Plast Reconstr Surg 2012 Aug;130(2):296e-304e. doi: 10.1097/PRS.0b013e3182589df2. PMID: 22842426

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