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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)

Definition

A group of inherited skin disorders that present with multisystem involvement. It includes ichthyosis, epidermolysis bullosa, ectodermal dysplasia, cutis laxa, progeroid conditions, xeroderma pigmentosum, Rothmund Thomson syndrome, and dyskeratosis congenita. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Dupilumab in the treatment of genodermatosis: A systematic review.
Wu PC, Dai YX, Li CL, Chen CC, Chang YT, Ma SH
J Dtsch Dermatol Ges 2023 Jan;21(1):7-17. Epub 2023 Jan 19 doi: 10.1111/ddg.14924. PMID: 36657040
Therapeutic Options for the Treatment of Darier's Disease: A Comprehensive Review of the Literature.
Hanna N, Lam M, Fleming P, Lynde CW
J Cutan Med Surg 2022 May-Jun;26(3):280-290. Epub 2021 Nov 28 doi: 10.1177/12034754211058405. PMID: 34841914Free PMC Article
Update in the Management of Basal Cell Carcinoma.
Basset-Seguin N, Herms F
Acta Derm Venereol 2020 Jun 3;100(11):adv00140. doi: 10.2340/00015555-3495. PMID: 32346750Free PMC Article

Recent clinical studies

Etiology

Update in the Management of Basal Cell Carcinoma.
Basset-Seguin N, Herms F
Acta Derm Venereol 2020 Jun 3;100(11):adv00140. doi: 10.2340/00015555-3495. PMID: 32346750Free PMC Article
RNA-based therapies for genodermatoses.
Bornert O, Peking P, Bremer J, Koller U, van den Akker PC, Aartsma-Rus A, Pasmooij AM, Murauer EM, Nyström A
Exp Dermatol 2017 Jan;26(1):3-10. doi: 10.1111/exd.13141. PMID: 27376675Free PMC Article
Muir-Torre syndrome.
Bhaijee F, Brown AS
Arch Pathol Lab Med 2014 Dec;138(12):1685-9. doi: 10.5858/arpa.2013-0301-RS. PMID: 25427047
Epidermodysplasia verruciformis.
Burger B, Itin PH
Curr Probl Dermatol 2014;45:123-31. Epub 2014 Mar 17 doi: 10.1159/000356068. PMID: 24643182
Gardner's syndrome.
Perniciaro C
Dermatol Clin 1995 Jan;13(1):51-6. PMID: 7712650

Diagnosis

Dowling-Degos disease: a review.
Stephan C, Kurban M, Abbas O
Int J Dermatol 2021 Aug;60(8):944-950. Epub 2020 Dec 23 doi: 10.1111/ijd.15385. PMID: 33368260
Emerging therapies in genodermatoses.
Silverberg N
Clin Dermatol 2020 Jul-Aug;38(4):462-466. Epub 2020 Mar 24 doi: 10.1016/j.clindermatol.2020.03.006. PMID: 32972604
Incontinentia Pigmenti.
Cammarata-Scalisi F, Fusco F, Ursini MV
Actas Dermosifiliogr (Engl Ed) 2019 May;110(4):273-278. Epub 2019 Jan 17 doi: 10.1016/j.ad.2018.10.004. PMID: 30660327
Muir-Torre syndrome.
Bhaijee F, Brown AS
Arch Pathol Lab Med 2014 Dec;138(12):1685-9. doi: 10.5858/arpa.2013-0301-RS. PMID: 25427047
Neonatal erythroderma.
Fraitag S, Bodemer C
Curr Opin Pediatr 2010 Aug;22(4):438-44. doi: 10.1097/MOP.0b013e32833bc396. PMID: 20616730

Therapy

In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial.
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
Therapeutic Options for the Treatment of Darier's Disease: A Comprehensive Review of the Literature.
Hanna N, Lam M, Fleming P, Lynde CW
J Cutan Med Surg 2022 May-Jun;26(3):280-290. Epub 2021 Nov 28 doi: 10.1177/12034754211058405. PMID: 34841914Free PMC Article
Emerging therapies in genodermatoses.
Silverberg N
Clin Dermatol 2020 Jul-Aug;38(4):462-466. Epub 2020 Mar 24 doi: 10.1016/j.clindermatol.2020.03.006. PMID: 32972604
RNA-based therapies for genodermatoses.
Bornert O, Peking P, Bremer J, Koller U, van den Akker PC, Aartsma-Rus A, Pasmooij AM, Murauer EM, Nyström A
Exp Dermatol 2017 Jan;26(1):3-10. doi: 10.1111/exd.13141. PMID: 27376675Free PMC Article
Cutaneous gene delivery.
Kikuchi Y, Tamai K, Kaneda Y
J Dermatol Sci 2008 May;50(2):87-98. Epub 2007 Aug 31 doi: 10.1016/j.jdermsci.2007.07.006. PMID: 17765482

Prognosis

Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.
Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-Martín A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA
J Eur Acad Dermatol Venereol 2022 Jul;36(7):973-986. Epub 2022 Mar 15 doi: 10.1111/jdv.18043. PMID: 35238435Free PMC Article
Cutaneous Expression of Familial Cancer Syndromes.
Andersen AJ, Schierbeck J, Bygum A, Puente-Pablo N
Acta Derm Venereol 2021 Jul 30;101(7):adv00505. doi: 10.2340/00015555-3852. PMID: 34159396Free PMC Article
Update in the Management of Basal Cell Carcinoma.
Basset-Seguin N, Herms F
Acta Derm Venereol 2020 Jun 3;100(11):adv00140. doi: 10.2340/00015555-3495. PMID: 32346750Free PMC Article
Neonatal erythroderma.
Fraitag S, Bodemer C
Curr Opin Pediatr 2010 Aug;22(4):438-44. doi: 10.1097/MOP.0b013e32833bc396. PMID: 20616730
Gardner's syndrome.
Perniciaro C
Dermatol Clin 1995 Jan;13(1):51-6. PMID: 7712650

Clinical prediction guides

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Liu Y, Banka S, Huang Y, Hardman-Smart J, Pye D, Torrelo A, Beaman GM, Kazanietz MG, Baker MJ, Ferrazzano C, Shi C, Orozco G, Eyre S, van Geel M, Bygum A, Fischer J, Miedzybrodzka Z, Abuzahra F, Rübben A, Cuvertino S, Ellingford JM, Smith MJ, Evans DG, Weppner-Parren LJMT, van Steensel MAM, Chaudhary IH, Mangham DC, Lear JT, Paus R, Frank J, Newman WG, Zhang X
Br J Dermatol 2022 Dec;187(6):948-961. Epub 2022 Sep 12 doi: 10.1111/bjd.21842. PMID: 35986704
European guidelines (S3) on diagnosis and management of mucous membrane pemphigoid, initiated by the European Academy of Dermatology and Venereology - Part I.
Rashid H, Lamberts A, Borradori L, Alberti-Violetti S, Barry RJ, Caproni M, Carey B, Carrozzo M, Caux F, Cianchini G, Corrà A, Diercks GFH, Dikkers FG, Di Zenzo G, Feliciani C, Geerling G, Genovese G, Hertl M, Joly P, Marzano AV, Meijer JM, Mercadante V, Murrell DF, Ormond M, Pas HH, Patsatsi A, Prost C, Rauz S, van Rhijn BD, Roth M, Schmidt E, Setterfield J, Zambruno G, Zillikens D, Horváth B
J Eur Acad Dermatol Venereol 2021 Sep;35(9):1750-1764. Epub 2021 Jul 10 doi: 10.1111/jdv.17397. PMID: 34245180Free PMC Article
Olmsted syndrome: clinical, molecular and therapeutic aspects.
Duchatelet S, Hovnanian A
Orphanet J Rare Dis 2015 Mar 17;10:33. doi: 10.1186/s13023-015-0246-5. PMID: 25886873Free PMC Article
Birt-Hogg-Dubé syndrome.
Lencastre A, Ponte P, Apetato M, Nunes L, Lestre S
An Bras Dermatol 2013 Nov-Dec;88(6 Suppl 1):203-5. doi: 10.1590/abd1806-4841.20132199. PMID: 24346920Free PMC Article
Neonatal erythroderma.
Fraitag S, Bodemer C
Curr Opin Pediatr 2010 Aug;22(4):438-44. doi: 10.1097/MOP.0b013e32833bc396. PMID: 20616730

Recent systematic reviews

Dupilumab in the treatment of genodermatosis: A systematic review.
Wu PC, Dai YX, Li CL, Chen CC, Chang YT, Ma SH
J Dtsch Dermatol Ges 2023 Jan;21(1):7-17. Epub 2023 Jan 19 doi: 10.1111/ddg.14924. PMID: 36657040
The impact of epidermolysis bullosa on the family and healthcare practitioners: a scoping review.
Chateau AV, Blackbeard D, Aldous C
Int J Dermatol 2023 Apr;62(4):459-475. Epub 2022 May 7 doi: 10.1111/ijd.16197. PMID: 35524482
Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.
Mezzi N, Messaoud O, Mkaouar R, Zitouna N, Romdhane S, Abdessalem G, Charfeddine C, Maazoul F, Ouerteni I, Hamdi Y, Zaouak A, Mrad R, Abdelhak S, Romdhane L
Genes (Basel) 2021 Nov 19;12(11) doi: 10.3390/genes12111820. PMID: 34828426Free PMC Article
Therapeutics of xeroderma pigmentosum: A PRISMA-compliant systematic review.
de Andrade FAG, Cavalcanti CEO, Isoldi FC, Ferreira LM
Indian J Dermatol Venereol Leprol 2021 Mar-Apr;87(2):176-189. doi: 10.25259/IJDVL_431_19. PMID: 33769755
Dental and oral anomalies in incontinentia pigmenti: a systematic review.
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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