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Genodermatosis

MedGen UID:
20779
Concept ID:
C0037277
Disease or Syndrome
Synonyms: Disease, Genetic Skin; Diseases, Genetic Skin; Genetic Skin Disease; Genetic Skin Diseases; Skin Disease, Genetic; Skin Diseases, Genetic
SNOMED CT: Genodermatosis (239001006)
 
Orphanet: ORPHA68346

Definition

Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGenodermatosis

Recent clinical studies

Etiology

Wally V, Hovnanian A, Ly J, Buckova H, Brunner V, Lettner T, Ablinger M, Felder TK, Hofbauer P, Wolkersdorfer M, Lagler FB, Hitzl W, Laimer M, Kitzmüller S, Diem A, Bauer JW
J Am Acad Dermatol 2018 May;78(5):892-901.e7. Epub 2018 Feb 2 doi: 10.1016/j.jaad.2018.01.019. PMID: 29410318
Xiao-Kai F, Yue-Xi H, Yan-Jia L, Li-Rong C, He-Peng W, Qing S
An Bras Dermatol 2017 May-Jun;92(3):329-333. doi: 10.1590/abd1806-4841.20175567. PMID: 29186243Free PMC Article
Segura S, Puig S, Carrera C, Lecha M, Borges V, Malvehy J
J Eur Acad Dermatol Venereol 2011 Jul;25(7):819-27. Epub 2010 Oct 15 doi: 10.1111/j.1468-3083.2010.03871.x. PMID: 20946582
Schmidt LS
Curr Mol Med 2004 Dec;4(8):877-85. PMID: 15579035
Neri S, Bruno CM, Mondati E, Scavo S
Dermatology 2002;205(1):57-9. doi: 10.1159/000063131. PMID: 12145436

Diagnosis

Nosé V
Head Neck Pathol 2016 Jun;10(2):131-8. Epub 2016 Mar 14 doi: 10.1007/s12105-016-0708-7. PMID: 26975628Free PMC Article
Kwan JM
JAMA Dermatol 2015 May;151(5):561-2. doi: 10.1001/jamadermatol.2014.5068. PMID: 25629449
Bryan ZT, Missall TA, Stieren S, Siegfried E, Burkemper NM
Pediatr Dermatol 2015 Jan-Feb;32(1):e23-8. Epub 2014 Dec 16 doi: 10.1111/pde.12494. PMID: 25514835
Santesteban Muruzábal R, Hervella Garcés M, Ros Martín C
Actas Dermosifiliogr 2015 Oct;106(8):667-8. Epub 2014 Dec 12 doi: 10.1016/j.ad.2014.11.002. PMID: 25512236
Marques GF, Tonello CS, Sousa JM
An Bras Dermatol 2014 May-Jun;89(3):486-9. PMID: 24937825Free PMC Article

Therapy

Wally V, Hovnanian A, Ly J, Buckova H, Brunner V, Lettner T, Ablinger M, Felder TK, Hofbauer P, Wolkersdorfer M, Lagler FB, Hitzl W, Laimer M, Kitzmüller S, Diem A, Bauer JW
J Am Acad Dermatol 2018 May;78(5):892-901.e7. Epub 2018 Feb 2 doi: 10.1016/j.jaad.2018.01.019. PMID: 29410318
Larcher F, Del Río M
Actas Dermosifiliogr 2015 Jun;106(5):376-82. Epub 2015 Mar 18 doi: 10.1016/j.ad.2015.01.007. PMID: 25796272
Fogel AL, Hill S, Teng JM
J Am Acad Dermatol 2015 May;72(5):879-89. Epub 2015 Mar 11 doi: 10.1016/j.jaad.2015.01.014. PMID: 25769191
Santesteban Muruzábal R, Hervella Garcés M, Ros Martín C
Actas Dermosifiliogr 2015 Oct;106(8):667-8. Epub 2014 Dec 12 doi: 10.1016/j.ad.2014.11.002. PMID: 25512236
Fernandes NF, Janniger CK, Schwartz RA
J Am Acad Dermatol 2010 Mar;62(3):480-5. Epub 2010 Jan 18 doi: 10.1016/j.jaad.2009.04.028. PMID: 20080321

Prognosis

Wally V, Hovnanian A, Ly J, Buckova H, Brunner V, Lettner T, Ablinger M, Felder TK, Hofbauer P, Wolkersdorfer M, Lagler FB, Hitzl W, Laimer M, Kitzmüller S, Diem A, Bauer JW
J Am Acad Dermatol 2018 May;78(5):892-901.e7. Epub 2018 Feb 2 doi: 10.1016/j.jaad.2018.01.019. PMID: 29410318
Sánchez-Jimeno C, Escámez MJ, Ayuso C, Trujillo-Tiebas MJ, Del Río M; en representación de la Cátedra de la Fundación Jiménez Díaz de Medicina Regenerativa y Bioingeniería Tisular, DEBRA-España y de otros profesionales sanitarios.
Actas Dermosifiliogr 2018 Mar;109(2):104-122. Epub 2017 Nov 26 doi: 10.1016/j.ad.2017.08.008. PMID: 29180129
Bryan ZT, Missall TA, Stieren S, Siegfried E, Burkemper NM
Pediatr Dermatol 2015 Jan-Feb;32(1):e23-8. Epub 2014 Dec 16 doi: 10.1111/pde.12494. PMID: 25514835
Dahlqvist J, Törmä H, Badhai J, Dahl N
PLoS One 2012;7(1):e29471. Epub 2012 Jan 3 doi: 10.1371/journal.pone.0029471. PMID: 22235297Free PMC Article
Neri S, Bruno CM, Mondati E, Scavo S
Dermatology 2002;205(1):57-9. doi: 10.1159/000063131. PMID: 12145436

Clinical prediction guides

Dahlqvist J, Törmä H, Badhai J, Dahl N
PLoS One 2012;7(1):e29471. Epub 2012 Jan 3 doi: 10.1371/journal.pone.0029471. PMID: 22235297Free PMC Article
Fernandes NF, Janniger CK, Schwartz RA
J Am Acad Dermatol 2010 Mar;62(3):480-5. Epub 2010 Jan 18 doi: 10.1016/j.jaad.2009.04.028. PMID: 20080321
Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, Turner ML, Duray P, Merino M, Hewitt S, Pavlovich CP, Glenn G, Greenberg CR, Linehan WM, Zbar B
Am J Hum Genet 2001 Oct;69(4):876-82. Epub 2001 Aug 30 doi: 10.1086/323744. PMID: 11533913Free PMC Article
McGrath JA
J Dermatol 1999 Nov;26(11):764-9. PMID: 10635620
Requena L, Fariña MC, Robledo M, Sangueza OP, Sanchez E, Villanueva A, Marquina A, Tamarit R
Arch Dermatol 1999 Oct;135(10):1227-35. PMID: 10522671

Recent systematic reviews

Imahorn E, Yüksel Z, Spoerri I, Gürel G, Imhof C, Saraçoğlu ZN, Koku Aksu AE, Rady PL, Tyring SK, Kempf W, Itin PH, Burger B
J Eur Acad Dermatol Venereol 2017 Oct;31(10):1722-1726. Epub 2017 Aug 4 doi: 10.1111/jdv.14431. PMID: 28646613
Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M
Clin Oral Investig 2013 Jan;17(1):1-8. Epub 2012 Mar 28 doi: 10.1007/s00784-012-0721-5. PMID: 22453515

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