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Keloid

MedGen UID:
7197
Concept ID:
C0022548
Acquired Abnormality
Synonym: Keloids
SNOMED CT: Cheloid (33659008); Keloid cicatrix (33659008); Keloid (33659008); Keloid scar (33659008); Cheloid of skin (33659008); Keloid of skin (33659008); Keloid (58405006)
 
HPO: HP:0010562
Monarch Initiative: MONDO:0005348

Definition

An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively. [from NCI]

Term Hierarchy

Conditions with this feature

Lowe syndrome
MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.
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.
Lateral meningocele syndrome
MedGen UID:
342070
Concept ID:
C1851710
Disease or Syndrome
NOTCH3-related lateral meningocele syndrome (LMS) is characterized by multiple lateral spinal meningoceles (protrusions of the arachnoid and dura through spinal foramina), distinctive facial features, joint hyperextensibility, hypotonia, and skeletal, cardiac, and urogenital anomalies. Neurologic sequelæ of the meningoceles depend on size and location and can include neurogenic bladder, paresthesia, back pain, and/or paraparesis. Other neurologic findings can include Chiari I malformation, syringomyelia, and rarely, hydrocephalus. Additional findings of LMS include developmental delay, mixed or conductive hearing loss, and cleft palate. Skeletal abnormalities may include scoliosis, vertebral fusion, scalloping of vertebrae, and wormian bones. Infants may demonstrate feeding difficulties with poor weight gain.
Acroosteolysis-keloid-like lesions-premature aging syndrome
MedGen UID:
400936
Concept ID:
C1866182
Disease or Syndrome
Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015).
Familial adenomatous polyposis 1
MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.
Keloid formation
MedGen UID:
460844
Concept ID:
C3149494
Finding
Keloid is a dermal fibroproliferative growth caused by pathologic wound healing following skin injury. Keloid is defined as a scar growing continuously and invasively beyond the confines of the original wound and is characterized by excessive fibroblast proliferation and deposition of extracellular matrix and collagen fibers. Local tissue factors, especially wound tension or infection, and endocrine factors are known to be involved in keloid formation. However, the fact that the incidence of keloid is higher in darker-skinned individuals suggests that genetic factors also play an important role (summary by Nakashima et al., 2010).
Frontometaphyseal dysplasia 2
MedGen UID:
934664
Concept ID:
C4310697
Disease or Syndrome
Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016). For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (305620).
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.
Ehlers-Danlos syndrome, classic-like, 2
MedGen UID:
1632001
Concept ID:
C4693870
Disease or Syndrome
Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408. For a discussion of the classification of EDS, see 130000.

Professional guidelines

PubMed

Jfri A, Alajmi A, Alazemi M, Ladha MA
Skin Therapy Lett 2022 Nov;27(6):6-9. PMID: 36469561
Ogawa R, Dohi T, Tosa M, Aoki M, Akaishi S
J Nippon Med Sch 2021 Mar 11;88(1):2-9. Epub 2020 Aug 1 doi: 10.1272/jnms.JNMS.2021_88-106. PMID: 32741903
Andrews JP, Marttala J, Macarak E, Rosenbloom J, Uitto J
Matrix Biol 2016 Apr;51:37-46. Epub 2016 Feb 2 doi: 10.1016/j.matbio.2016.01.013. PMID: 26844756Free PMC Article

Recent clinical studies

Etiology

Knowles A, Glass DA 2nd
Dermatol Clin 2023 Jul;41(3):509-517. Epub 2023 Apr 4 doi: 10.1016/j.det.2023.02.010. PMID: 37236718
Walsh LA, Wu E, Pontes D, Kwan KR, Poondru S, Miller CH, Kundu RV
Syst Rev 2023 Mar 14;12(1):42. doi: 10.1186/s13643-023-02192-7. PMID: 36918908Free PMC Article
Ogawa R
Plast Reconstr Surg 2022 Jan 1;149(1):79e-94e. doi: 10.1097/PRS.0000000000008667. PMID: 34813576Free PMC Article
Jilta Carlose F, Karunakaran HK, Rajagopal R, Sagadevan S
J Prosthet Dent 2022 Oct;128(4):827-829. Epub 2021 Apr 3 doi: 10.1016/j.prosdent.2020.12.034. PMID: 33823983
Ogawa R, Dohi T, Tosa M, Aoki M, Akaishi S
J Nippon Med Sch 2021 Mar 11;88(1):2-9. Epub 2020 Aug 1 doi: 10.1272/jnms.JNMS.2021_88-106. PMID: 32741903

Diagnosis

Sanchez NG, Rebollo Domínguez N, Martínez Luna E, Villaseñor Ovies P
Reumatol Clin (Engl Ed) 2023 Oct;19(8):463-464. doi: 10.1016/j.reumae.2023.02.009. PMID: 37805259
Hawash AA, Ingrasci G, Nouri K, Yosipovitch G
Acta Derm Venereol 2021 Oct 28;101(10):adv00582. doi: 10.2340/00015555-3923. PMID: 34518894Free PMC Article
Jagdeo J, Kerby E, Glass DA 2nd
JAMA Dermatol 2021 Jun 1;157(6):744. doi: 10.1001/jamadermatol.2020.4705. PMID: 33881453
Yeung H, Kahn B, Ly BC, Tangpricha V
Endocrinol Metab Clin North Am 2019 Jun;48(2):429-440. doi: 10.1016/j.ecl.2019.01.005. PMID: 31027550Free PMC Article
Lindsey SF, Tosti A
Curr Probl Dermatol 2015;47:139-49. Epub 2015 Feb 20 doi: 10.1159/000369414. PMID: 26370652

Therapy

Walsh LA, Wu E, Pontes D, Kwan KR, Poondru S, Miller CH, Kundu RV
Syst Rev 2023 Mar 14;12(1):42. doi: 10.1186/s13643-023-02192-7. PMID: 36918908Free PMC Article
Leszczynski R, da Silva CA, Pinto ACPN, Kuczynski U, da Silva EM
Cochrane Database Syst Rev 2022 Sep 26;9(9):CD011642. doi: 10.1002/14651858.CD011642.pub2. PMID: 36161591Free PMC Article
Ekstein SF, Wyles SP, Moran SL, Meves A
Int J Dermatol 2021 Jun;60(6):661-671. Epub 2020 Sep 9 doi: 10.1111/ijd.15159. PMID: 32905614Free PMC Article
González N, Goldberg DJ
J Drugs Dermatol 2019 Jun 1;18(6):550-555. PMID: 31251547
Murray JC, Pollack SV, Pinnell SR
J Am Acad Dermatol 1981 Apr;4(4):461-70. doi: 10.1016/s0190-9622(81)70048-3. PMID: 7014664

Prognosis

Ogawa R, Dohi T, Tosa M, Aoki M, Akaishi S
J Nippon Med Sch 2021 Mar 11;88(1):2-9. Epub 2020 Aug 1 doi: 10.1272/jnms.JNMS.2021_88-106. PMID: 32741903
Wang ZC, Zhao WY, Cao Y, Liu YQ, Sun Q, Shi P, Cai JQ, Shen XZ, Tan WQ
Front Immunol 2020;11:603187. Epub 2020 Dec 4 doi: 10.3389/fimmu.2020.603187. PMID: 33343575Free PMC Article
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Int J Mol Sci 2017 Mar 10;18(3) doi: 10.3390/ijms18030606. PMID: 28287424Free PMC Article
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J Drugs Dermatol 2011 May;10(5):468-80. PMID: 21533292
O'Toole GA, Milward TM
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Clinical prediction guides

Haghani-Dogahe Z, Hadadi R, Esmailzadeh M, Mobayen M
Int Wound J 2023 Dec;20(10):4166-4174. Epub 2023 Sep 5 doi: 10.1111/iwj.14314. PMID: 37670475Free PMC Article
Santiago S, Brown R, Shao K, Hooper J, Perez M
J Drugs Dermatol 2023 Jul 1;22(7):641-646. doi: 10.36849/JDD.6859. PMID: 37410041
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Int J Mol Sci 2017 Mar 10;18(3) doi: 10.3390/ijms18030606. PMID: 28287424Free PMC Article
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Recent systematic reviews

Nguyen A, Huynh C, Goh A, Co A, Hassan O, Phan S
Dermatol Online J 2023 Aug 15;29(4) doi: 10.5070/D329461860. PMID: 37921811
Walsh LA, Wu E, Pontes D, Kwan KR, Poondru S, Miller CH, Kundu RV
Syst Rev 2023 Mar 14;12(1):42. doi: 10.1186/s13643-023-02192-7. PMID: 36918908Free PMC Article
Leszczynski R, da Silva CA, Pinto ACPN, Kuczynski U, da Silva EM
Cochrane Database Syst Rev 2022 Sep 26;9(9):CD011642. doi: 10.1002/14651858.CD011642.pub2. PMID: 36161591Free PMC Article
Cohen JL, Scuderi N
Aesthet Surg J 2017 May 1;37(suppl_1):S32-S44. doi: 10.1093/asj/sjx010. PMID: 28388721Free PMC Article
Bijlard E, Steltenpool S, Niessen FB
Acta Derm Venereol 2015 Sep;95(7):778-82. doi: 10.2340/00015555-2106. PMID: 25805099

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