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Abnormal fetal skin morphology

MedGen UID:
1814219
Concept ID:
C5676645
Congenital Abnormality
HPO: HP:0025723

Definition

Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. [from HPO]

Term Hierarchy

Professional guidelines

PubMed

Shimizu H
Prenat Diagn 2006 Dec;26(13):1260-1. doi: 10.1002/pd.1603. PMID: 17139697
Simpson JL, Verp MS
Clin Obstet Gynecol 1982 Dec;25(4):635-58. doi: 10.1097/00003081-198212000-00004. PMID: 6761024
Milunsky A, Littlefield JW, Kanfer JN, Kolodny EH, Shih VE, Atkins L
N Engl J Med 1970 Dec 17;283(25):1370-81. doi: 10.1056/NEJM197012172832505. PMID: 4921307

Recent clinical studies

Etiology

Rosain J, Le Voyer T, Liu X, Gervais A, Polivka L, Cederholm A, Berteloot L, Parent AV, Pescatore A, Spinosa E, Minic S, Kiszewski AE, Tsumura M, Thibault C, Esnaola Azcoiti M, Martinovic J, Philippot Q, Khan T, Marchal A, Charmeteau-De Muylder B, Bizien L, Deswarte C, Hadjem L, Fauvarque MO, Dorgham K, Eriksson D, Falcone EL, Puel M, Ünal S, Geraldo A, Le Floc'h C, Li H, Rheault S, Muti C, Bobrie-Moyrand C, Welfringer-Morin A, Fuleihan RL, Lévy R, Roelens M, Gao L, Materna M, Pellegrini S, Piemonti L, Catherinot E, Goffard JC, Fekkar A, Sacko-Sow A, Soudée C, Boucherit S, Neehus AL, Has C, Hübner S, Blanchard-Rohner G, Amador-Borrero B, Utsumi T, Taniguchi M, Tani H, Izawa K, Yasumi T, Kanai S, Migaud M, Aubart M, Lambert N, Gorochov G, Picard C, Soudais C, L'Honneur AS, Rozenberg F, Milner JD, Zhang SY, Vabres P, Trpinac D, Marr N, Boddaert N, Desguerre I, Pasparakis M, Miller CN, Poziomczyk CS, Abel L, Okada S, Jouanguy E, Cheynier R, Zhang Q, Cobat A, Béziat V, Boisson B, Steffann J, Fusco F, Ursini MV, Hadj-Rabia S, Bodemer C, Bustamante J, Luche H, Puel A, Courtois G, Bastard P, Landegren N, Anderson MS, Casanova JL
J Exp Med 2024 Nov 4;221(11) Epub 2024 Oct 1 doi: 10.1084/jem.20231152. PMID: 39352576Free PMC Article
Gelmetti A, Greppi N, Guez S, Grassi F, Rebulla P, Tadini G
Transfus Apher Sci 2018 Jun;57(3):370-373. Epub 2018 May 10 doi: 10.1016/j.transci.2018.05.021. PMID: 29933907
Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G
Int J Dermatol 2018 Aug;57(8):965-972. Epub 2018 May 31 doi: 10.1111/ijd.14048. PMID: 29855039
Russo ML, Sukhavasi N, Mathur V, Morris SA
Obstet Gynecol 2018 Jun;131(6):1080-1084. doi: 10.1097/AOG.0000000000002615. PMID: 29742657Free PMC Article
Tavakolpour S, Mirsafaei HS, Delshad S
Am J Reprod Immunol 2017 Jan;77(1) Epub 2016 Nov 8 doi: 10.1111/aji.12601. PMID: 27862562

Diagnosis

Fitouri F, Chebil N, Ben Ammar S, Sahli S, Hamzaoui M
Fetal Pediatr Pathol 2020 Feb;39(1):90-91. Epub 2019 Jun 19 doi: 10.1080/15513815.2019.1629133. PMID: 31215294
Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G
Int J Dermatol 2018 Aug;57(8):965-972. Epub 2018 May 31 doi: 10.1111/ijd.14048. PMID: 29855039
Tavakolpour S, Mirsafaei HS, Delshad S
Am J Reprod Immunol 2017 Jan;77(1) Epub 2016 Nov 8 doi: 10.1111/aji.12601. PMID: 27862562
Ekmektzoglou K, Demestiha T, Troupis G, Xanthos T
Fetal Pediatr Pathol 2012 Apr;31(2):94-111. doi: 10.3109/15513815.2011.650293. PMID: 22409408
Rauskolb R
J Perinat Med 1983;11(5):223-31. doi: 10.1515/jpme.1983.11.5.223. PMID: 6358450

Therapy

Nevala-Plagemann C, Lee C, Tolar J
Cytotherapy 2015 Jun;17(6):786-795. Epub 2015 Mar 18 doi: 10.1016/j.jcyt.2015.03.006. PMID: 25795271Free PMC Article
Nelson JS, Stone MS
Curr Opin Pediatr 2000 Aug;12(4):359-64. doi: 10.1097/00008480-200008000-00014. PMID: 10943817
Giannotti B, Carli P
Eur J Contracept Reprod Health Care 1998 Mar;3(1):17-9. doi: 10.3109/13625189809167480. PMID: 9678068
Rauskolb R
J Perinat Med 1983;11(5):223-31. doi: 10.1515/jpme.1983.11.5.223. PMID: 6358450
Rodeck CH, Nicolaides KH
Br Med Bull 1983 Oct;39(4):332-7. doi: 10.1093/oxfordjournals.bmb.a071844. PMID: 6357343

Prognosis

Muniraman H, Sardesai T, Sardesai S
Pediatr Rev 2018 Jul;39(7):332-341. doi: 10.1542/pir.2017-0202. PMID: 29967078
Traisrisilp K, Srisupundit K, Suwansirikul S, Norasetthada T, Kosarat S, Tongsong T
J Clin Ultrasound 2018 Sep;46(7):487-493. Epub 2017 Nov 28 doi: 10.1002/jcu.22566. PMID: 29193240
Häberle J, Görg B, Toutain A, Rutsch F, Benoist JF, Gelot A, Suc AL, Koch HG, Schliess F, Häussinger D
J Inherit Metab Dis 2006 Apr-Jun;29(2-3):352-8. doi: 10.1007/s10545-006-0256-5. PMID: 16763901
Lockwood CJ, Lynch L, Berkowitz RL
Am J Obstet Gynecol 1991 Aug;165(2):349-52. doi: 10.1016/0002-9378(91)90090-e. PMID: 1831322
Hutto C, Arvin A, Jacobs R, Steele R, Stagno S, Lyrene R, Willett L, Powell D, Andersen R, Werthammer J
J Pediatr 1987 Jan;110(1):97-101. doi: 10.1016/s0022-3476(87)80298-6. PMID: 3794894

Clinical prediction guides

Chen G, Xiong S, Jing Q, van Gestel CAM, van Straalen NM, Roelofs D, Sun L, Qiu H
Sci Total Environ 2023 Jan 1;854:158666. Epub 2022 Sep 13 doi: 10.1016/j.scitotenv.2022.158666. PMID: 36108837
Fitouri F, Chebil N, Ben Ammar S, Sahli S, Hamzaoui M
Fetal Pediatr Pathol 2020 Feb;39(1):90-91. Epub 2019 Jun 19 doi: 10.1080/15513815.2019.1629133. PMID: 31215294
Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Körber I, Wohlfart S, Dick A, Wahlbuhl M, Kowalczyk-Quintas C, Vigolo M, Kirby N, Tannert C, Rompel O, Rascher W, Beckmann MW, Schneider P
N Engl J Med 2018 Apr 26;378(17):1604-1610. doi: 10.1056/NEJMoa1714322. PMID: 29694819
Boh EE
Clin Dermatol 2004 Mar-Apr;22(2):125-8. doi: 10.1016/j.clindermatol.2003.12.019. PMID: 15234013
Lockwood CJ, Lynch L, Berkowitz RL
Am J Obstet Gynecol 1991 Aug;165(2):349-52. doi: 10.1016/0002-9378(91)90090-e. PMID: 1831322

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