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Regional abnormality of skin

MedGen UID:
868988
•Concept ID:
C4023402
•
Anatomical Abnormality
HPO: HP:0011356

Definition

An abnormality of the skin that is restricted to a particular body region. [from HPO]

Professional guidelines

PubMed

Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations.
Sabeti S, Ball KL, Bhattacharya SK, Bitrian E, Blieden LS, Brandt JD, Burkhart C, Chugani HT, Falchek SJ, Jain BG, Juhasz C, Loeb JA, Luat A, Pinto A, Segal E, Salvin J, Kelly KM
Pediatr Neurol 2021 Aug;121:59-66. Epub 2021 May 6 doi: 10.1016/j.pediatrneurol.2021.04.013. PMID: 34153815Free PMC Article
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free PMC Article
2013 classification criteria for systemic sclerosis: an American college of rheumatology/European league against rheumatism collaborative initiative.
van den Hoogen F, Khanna D, Fransen J, Johnson SR, Baron M, Tyndall A, Matucci-Cerinic M, Naden RP, Medsger TA Jr, Carreira PE, Riemekasten G, Clements PJ, Denton CP, Distler O, Allanore Y, Furst DE, Gabrielli A, Mayes MD, van Laar JM, Seibold JR, Czirjak L, Steen VD, Inanc M, Kowal-Bielecka O, Müller-Ladner U, Valentini G, Veale DJ, Vonk MC, Walker UA, Chung L, Collier DH, Ellen Csuka M, Fessler BJ, Guiducci S, Herrick A, Hsu VM, Jimenez S, Kahaleh B, Merkel PA, Sierakowski S, Silver RM, Simms RW, Varga J, Pope JE
Ann Rheum Dis 2013 Nov;72(11):1747-55. doi: 10.1136/annrheumdis-2013-204424. PMID: 24092682

Recent clinical studies

Etiology

Adverse cutaneous effects of mitogen-activated protein kinase inhibitors in children.
Dávila Osorio VL, Vicente MA, Baselga E, Salvador H, Cruz O, Prat C
Pediatr Dermatol 2021 Mar;38(2):420-423. Epub 2020 Dec 27 doi: 10.1111/pde.14354. PMID: 33368596
Hemangioma-related syndromes.
Valdebran M, Wine Lee L
Curr Opin Pediatr 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. PMID: 32692048
Nevus comedonicus: a case series.
Ferrari B, Taliercio V, Restrepo P, Luna P, Abad ME, Larralde M
Pediatr Dermatol 2015 Mar-Apr;32(2):216-9. Epub 2014 Dec 29 doi: 10.1111/pde.12466. PMID: 25557057
Ceramides and skin function.
Coderch L, López O, de la Maza A, Parra JL
Am J Clin Dermatol 2003;4(2):107-29. doi: 10.2165/00128071-200304020-00004. PMID: 12553851
Incontinentia pigmenti achromians (Ito).
Hata S, Endo H, Yabuuchi H
J Dermatol 1980 Feb;7(1):49-54. doi: 10.1111/j.1346-8138.1980.tb01942.x. PMID: 15462075

Diagnosis

Clarifying Misleading Lumps and Sinuses in the Newborn.
Rich BS, Dolgin SE
Pediatr Rev 2020 Jun;41(6):276-282. doi: 10.1542/pir.2018-0256. PMID: 32482690
Restrictive Dermopathy.
Dutta AK, Danda S
Pediatr Neonatol 2016 Jun;57(3):259. Epub 2015 Oct 28 doi: 10.1016/j.pedneo.2015.09.005. PMID: 26627141
Skin dimples.
Kumar A, Kanojia RK, Saili A
Int J Dermatol 2014 Jul;53(7):789-97. Epub 2014 Apr 16 doi: 10.1111/ijd.12376. PMID: 24738724
SACRAL syndrome.
Yadav DK, Panda SS, Teckchandani N, Bagga D
BMJ Case Rep 2013 Jul 31;2013 doi: 10.1136/bcr-2013-200215. PMID: 23904432Free PMC Article
Sacral dimples.
Zywicke HA, Rozzelle CJ
Pediatr Rev 2011 Mar;32(3):109-13; quiz 114, 151. doi: 10.1542/pir.32-3-109. PMID: 21364014

Therapy

Epidermolysis bullosa acquisita.
Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
Dermal sinus tracts.
Foster MT, Moxon CA, Weir E, Sinha A
BMJ 2019 Sep 4;366:l5202. doi: 10.1136/bmj.l5202. PMID: 31484633
Safety of dermatologic medications in pregnancy and lactation: Part II. Lactation.
Butler DC, Heller MM, Murase JE
J Am Acad Dermatol 2014 Mar;70(3):417.e1-10; quiz 427. doi: 10.1016/j.jaad.2013.09.009. PMID: 24528912
Safety of dermatologic medications in pregnancy and lactation: Part I. Pregnancy.
Murase JE, Heller MM, Butler DC
J Am Acad Dermatol 2014 Mar;70(3):401.e1-14; quiz 415. doi: 10.1016/j.jaad.2013.09.010. PMID: 24528911
Ceramides and skin function.
Coderch L, López O, de la Maza A, Parra JL
Am J Clin Dermatol 2003;4(2):107-29. doi: 10.2165/00128071-200304020-00004. PMID: 12553851

Prognosis

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M
J Invest Dermatol 2017 Jan;137(1):207-216. Epub 2016 Aug 9 doi: 10.1016/j.jid.2016.07.034. PMID: 27519652
Nevus comedonicus: a case series.
Ferrari B, Taliercio V, Restrepo P, Luna P, Abad ME, Larralde M
Pediatr Dermatol 2015 Mar-Apr;32(2):216-9. Epub 2014 Dec 29 doi: 10.1111/pde.12466. PMID: 25557057
Sacral dimples.
Zywicke HA, Rozzelle CJ
Pediatr Rev 2011 Mar;32(3):109-13; quiz 114, 151. doi: 10.1542/pir.32-3-109. PMID: 21364014
Xeroderma pigmentosum.
Kulkarni ML, Rani RS
Indian Pediatr 1996 May;33(5):394-8. PMID: 8979588
Incontinentia pigmenti achromians (Ito).
Hata S, Endo H, Yabuuchi H
J Dermatol 1980 Feb;7(1):49-54. doi: 10.1111/j.1346-8138.1980.tb01942.x. PMID: 15462075

Clinical prediction guides

Clinicodermoscopic and immunohistochemical observation of hepatitis B virus-associated acquired bilateral telangiectatic macules in a Chinese man.
Zhang ZW, Wu H, Tang KF, Fan YM
An Bras Dermatol 2021 Nov-Dec;96(6):791-793. Epub 2021 Sep 27 doi: 10.1016/j.abd.2020.08.027. PMID: 34593264Free PMC Article
Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.
Maruani A, Tavernier E, Boccara O, Mazereeuw-Hautier J, Leducq S, Bessis D, Guibaud L, Vabres P, Carmignac V, Mallet S, Barbarot S, Chiaverini C, Droitcourt C, Bursztejn AC, Lengellé C, Woillard JB, Herbreteau D, Le Touze A, Joly A, Léauté-Labrèze C, Powell J, Bourgoin H, Gissot V, Giraudeau B, Morel B
JAMA Dermatol 2021 Nov 1;157(11):1289-1298. doi: 10.1001/jamadermatol.2021.3459. PMID: 34524406Free PMC Article
Bilateral cervical chondrocutaneous branchial remnants: A case report and a review of the literature.
Lee HS, Kim TH, Jang JY, Woo JW, Lee J, Jeong SH, Jung EJ, An HJ, Park T
Medicine (Baltimore) 2020 Jul 10;99(28):e21114. doi: 10.1097/MD.0000000000021114. PMID: 32664135Free PMC Article
Oblique advancement flap for defects of the lateral nasal supratip.
Alam M, Goldberg LH
Arch Dermatol 2003 Aug;139(8):1039-42. doi: 10.1001/archderm.139.8.1039. PMID: 12925393
The normal range in diagnostic phototesting.
Diffey BL, Farr PM
Br J Dermatol 1989 Apr;120(4):517-24. doi: 10.1111/j.1365-2133.1989.tb01325.x. PMID: 2730842

Recent systematic reviews

Management of hypertrophic scars in adults: A systematic review and meta-analysis.
Choi C, Mukovozov I, Jazdarehee A, Rai R, Sachdeva M, Shunmugam M, Zaslavsky K, Byun S, Barankin B
Australas J Dermatol 2022 May;63(2):172-189. Epub 2022 Jan 31 doi: 10.1111/ajd.13790. PMID: 35099068
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Kong X, Xie L, Zhu H, Song L, Xing X, Yang W, Chen X
Orphanet J Rare Dis 2019 Jul 8;14(1):171. doi: 10.1186/s13023-019-1097-2. PMID: 31286966Free PMC Article
Comorbidities in alopecia areata: A systematic review and meta-analysis.
Lee S, Lee H, Lee CH, Lee WS
J Am Acad Dermatol 2019 Feb;80(2):466-477.e16. Epub 2018 Jul 18 doi: 10.1016/j.jaad.2018.07.013. PMID: 30031145
Interventions for Old World cutaneous leishmaniasis.
Heras-Mosteiro J, Monge-Maillo B, Pinart M, Lopez Pereira P, Reveiz L, Garcia-Carrasco E, Campuzano Cuadrado P, Royuela A, Mendez Roman I, López-Vélez R
Cochrane Database Syst Rev 2017 Dec 1;12(12):CD005067. doi: 10.1002/14651858.CD005067.pub5. PMID: 29192424Free PMC Article
Interventions for Old World cutaneous leishmaniasis.
Heras-Mosteiro J, Monge-Maillo B, Pinart M, Lopez Pereira P, Reveiz L, Garcia-Carrasco E, Campuzano Cuadrado P, Royuela A, Mendez Roman I, López-Vélez R
Cochrane Database Syst Rev 2017 Nov 17;11(11):CD005067. doi: 10.1002/14651858.CD005067.pub4. PMID: 29149474Free PMC Article

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