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Congenital anomaly of skin

MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
Synonyms: Abnormalities, Skin; Abnormality, Skin; Skin Abnormalities; Skin Abnormality
SNOMED CT: Congenital anomaly of skin (199879009); Congenital cutaneous anomaly (199879009); Congenital malformation of the skin (199879009); Congenital skin anomalies (199879009)

Definition

A skin abnormality that is present at birth or detected in the neonatal period. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital anomaly of skin

Professional guidelines

PubMed

Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Kullberg BJ, Vrijmoeth HD, van de Schoor F, Hovius JW
BMJ 2020 May 26;369:m1041. doi: 10.1136/bmj.m1041. PMID: 32457042
Krowchuk DP, Frieden IJ, Mancini AJ, Darrow DH, Blei F, Greene AK, Annam A, Baker CN, Frommelt PC, Hodak A, Pate BM, Pelletier JL, Sandrock D, Weinberg ST, Whelan MA; SUBCOMMITTEE ON THE MANAGEMENT OF INFANTILE HEMANGIOMAS
Pediatrics 2019 Jan;143(1) doi: 10.1542/peds.2018-3475. PMID: 30584062

Recent clinical studies

Etiology

Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V
Orphanet J Rare Dis 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. PMID: 37143135Free PMC Article
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Hou PC, Wang HT, Abhee S, Tu WT, McGrath JA, Hsu CK
Am J Clin Dermatol 2021 Nov;22(6):801-817. Epub 2021 Jul 22 doi: 10.1007/s40257-021-00626-3. PMID: 34292508
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
Nat Rev Dis Primers 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532

Diagnosis

Danby SG, Andrew PV, Kay LJ, Pinnock A, Chittock J, Brown K, Williams SF, Cork MJ
Br J Dermatol 2022 May;186(5):875-886. Epub 2022 Apr 3 doi: 10.1111/bjd.20955. PMID: 34921679Free PMC Article
Valdebran M, Wine Lee L
Curr Opin Pediatr 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. PMID: 32692048
Prabha N, Chhabra N, Kulkarni S, Hussain N
Skinmed 2018;16(4):273-274. Epub 2018 Jul 1 PMID: 30207533
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090
Resende C, Araújo C, Vieira AP, Ventura F, Brito C
Dermatol Online J 2013 Oct 16;19(10):20026. PMID: 24139367

Therapy

Zhao M, Shen C
N Engl J Med 2023 Nov 9;389(19):1803. Epub 2023 Nov 4 doi: 10.1056/NEJMicm2304003. PMID: 37929839
Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS
Arch Dermatol Res 2023 Mar;315(2):305-315. Epub 2022 Feb 26 doi: 10.1007/s00403-022-02325-3. PMID: 35218370Free PMC Article
Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Gurevich I, Agarwal P, Zhang P, Dolorito JA, Oliver S, Liu H, Reitze N, Sarma N, Bagci IS, Sridhar K, Kakarla V, Yenamandra VK, O'Malley M, Prisco M, Tufa SF, Keene DR, South AP, Krishnan SM, Marinkovich MP
Nat Med 2022 Apr;28(4):780-788. Epub 2022 Mar 28 doi: 10.1038/s41591-022-01737-y. PMID: 35347281Free PMC Article
Engelbert RH, Juul-Kristensen B, Pacey V, de Wandele I, Smeenk S, Woinarosky N, Sabo S, Scheper MC, Russek L, Simmonds JV
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):158-167. doi: 10.1002/ajmg.c.31545. PMID: 28306230

Prognosis

Takiya M, Fushimi Y, Sakamoto M, Yoshida T, Ueno K, Nakajima S, Sakata A, Okuchi S, Otani S, Tagawa H, Morimoto N, Nakamoto Y
Sci Rep 2023 Sep 30;13(1):16442. doi: 10.1038/s41598-023-43829-w. PMID: 37777590Free PMC Article
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
Nat Rev Dis Primers 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163
Nat Rev Dis Primers 2020 Sep 24;6(1):79. doi: 10.1038/s41572-020-00220-7. PMID: 32973138
Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T
J Ayub Med Coll Abbottabad 2019 Apr-Jun;31(2):290-292. PMID: 31094135
Zywicke HA, Rozzelle CJ
Pediatr Rev 2011 Mar;32(3):109-13; quiz 114, 151. doi: 10.1542/pir.32-3-109. PMID: 21364014

Clinical prediction guides

Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V
Orphanet J Rare Dis 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. PMID: 37143135Free PMC Article
Gutiérrez-Cerrajero C, Sprecher E, Paller AS, Akiyama M, Mazereeuw-Hautier J, Hernández-Martín A, González-Sarmiento R
Nat Rev Dis Primers 2023 Jan 19;9(1):2. doi: 10.1038/s41572-022-00412-3. PMID: 36658199
Danby SG, Andrew PV, Kay LJ, Pinnock A, Chittock J, Brown K, Williams SF, Cork MJ
Br J Dermatol 2022 May;186(5):875-886. Epub 2022 Apr 3 doi: 10.1111/bjd.20955. PMID: 34921679Free PMC Article
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Malek S, Reinhold EJ, Pearce GS
Rheumatol Int 2021 Oct;41(10):1707-1716. Epub 2021 Mar 18 doi: 10.1007/s00296-021-04832-4. PMID: 33738549Free PMC Article

Recent systematic reviews

Thwaites PA, Gibson PR, Burgell RE
J Gastroenterol Hepatol 2022 Sep;37(9):1693-1709. Epub 2022 Jul 20 doi: 10.1111/jgh.15927. PMID: 35750466Free PMC Article
Curtiss P, Walker AM, Chong BF
Front Immunol 2022;13:866319. Epub 2022 Mar 11 doi: 10.3389/fimmu.2022.866319. PMID: 35359921Free PMC Article
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029
Reychler G, De Backer MM, Piraux E, Poncin W, Caty G
Am J Med Genet A 2021 Oct;185(10):2986-2994. Epub 2021 Jun 19 doi: 10.1002/ajmg.a.62393. PMID: 34145717
Antonini L, Le Mauff B, Marcelli C, Aouba A, de Boysson H
Autoimmun Rev 2020 Sep;19(9):102612. Epub 2020 Jul 12 doi: 10.1016/j.autrev.2020.102612. PMID: 32668290

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