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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

Practice advisory on the prevention and management of complications of pediatric regional anesthesia.
Ecoffey C, Bosenberg A, Lonnqvist PA, Suresh S, Delbos A, Ivani G
J Clin Anesth 2022 Aug;79:110725. Epub 2022 Mar 18 doi: 10.1016/j.jclinane.2022.110725. PMID: 35313269
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

Hemangioma-related syndromes.
Valdebran M, Wine Lee L
Curr Opin Pediatr 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. PMID: 32692048
Skin Fragility: Perspectives on Evidence-based Therapies.
Bruckner-Tuderman L
Acta Derm Venereol 2020 Feb 12;100(5):adv00053. doi: 10.2340/00015555-3398. [Epub ahead of print] PMID: 32039456Free PMC Article
Xeroderma pigmentosum.
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free PMC Article
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinéz AE, Mellerio JE, McGrath JA
Acta Derm Venereol 2011 May;91(3):262-6. doi: 10.2340/00015555-1053. PMID: 21448560
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

Diagnosis

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
Xeroderma pigmentosum.
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free PMC Article
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinéz AE, Mellerio JE, McGrath JA
Acta Derm Venereol 2011 May;91(3):262-6. doi: 10.2340/00015555-1053. PMID: 21448560
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
PELVIS Syndrome.
Girard C, Bigorre M, Guillot B, Bessis D
Arch Dermatol 2006 Jul;142(7):884-8. doi: 10.1001/archderm.142.7.884. PMID: 16847205

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
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
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

English version of guidelines for the management of asteatosis 2021 in Japan.
Saeki H, Tsunemi Y, Arai S, Ichiyama S, Katoh N, Kikuchi K, Kubo A, Terui T, Nakahara T, Futamura M, Murota H, Igarashi A
J Dermatol 2022 Mar;49(3):e77-e90. Epub 2021 Dec 30 doi: 10.1111/1346-8138.16293. PMID: 34970776
Anesthetic Management of Adults With Epidermolysis Bullosa.
Mittal BM, Goodnough CL, Bushell E, Turkmani-Bazzi S, Sheppard K
Anesth Analg 2022 Jan 1;134(1):90-101. doi: 10.1213/ANE.0000000000005706. PMID: 34403382Free PMC Article
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Xeroderma pigmentosum.
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free 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

Clinical prediction guides

English version of guidelines for the management of asteatosis 2021 in Japan.
Saeki H, Tsunemi Y, Arai S, Ichiyama S, Katoh N, Kikuchi K, Kubo A, Terui T, Nakahara T, Futamura M, Murota H, Igarashi A
J Dermatol 2022 Mar;49(3):e77-e90. Epub 2021 Dec 30 doi: 10.1111/1346-8138.16293. PMID: 34970776
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
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinéz AE, Mellerio JE, McGrath JA
Acta Derm Venereol 2011 May;91(3):262-6. doi: 10.2340/00015555-1053. PMID: 21448560
PELVIS Syndrome.
Girard C, Bigorre M, Guillot B, Bessis D
Arch Dermatol 2006 Jul;142(7):884-8. doi: 10.1001/archderm.142.7.884. PMID: 16847205
Coccygeal pits.
Weprin BE, Oakes WJ
Pediatrics 2000 May;105(5):E69. doi: 10.1542/peds.105.5.e69. PMID: 10799633

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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