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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

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
JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study.
Le Voyer T, Gitiaux C, Authier FJ, Bodemer C, Melki I, Quartier P, Aeschlimann F, Isapof A, Herbeuval JP, Bondet V, Charuel JL, Frémond ML, Duffy D, Rodero MP, Bader-Meunier B
Rheumatology (Oxford) 2021 Dec 1;60(12):5801-5808. doi: 10.1093/rheumatology/keab116. PMID: 33576769
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
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139
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

Diagnosis

Darier Disease - A Multi-organ Condition?
Bachar-Wikström E, Wikström JD
Acta Derm Venereol 2021 Apr 15;101(4):adv00430. doi: 10.2340/00015555-3770. PMID: 33606037Free PMC Article
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
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

Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa.
So JY, Nazaroff J, Iwummadu CV, Harris N, Gorell ES, Fulchand S, Bailey I, McCarthy D, Siprashvili Z, Marinkovich MP, Tang JY, Chiou AS
Orphanet J Rare Dis 2022 Oct 17;17(1):377. doi: 10.1186/s13023-022-02546-9. PMID: 36253825Free PMC Article
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
European Guidelines (S3) on diagnosis and management of mucous membrane pemphigoid, initiated by the European Academy of Dermatology and Venereology - Part II.
Schmidt E, Rashid H, Marzano AV, Lamberts A, Di Zenzo G, Diercks GFH, Alberti-Violetti S, Barry RJ, Borradori L, Caproni M, Carey B, Carrozzo M, Cianchini G, Corrà A, Dikkers FG, Feliciani C, Geerling G, Genovese G, Hertl M, Joly P, Meijer JM, Mercadante V, Murrell DF, Ormond M, Pas HH, Patsatsi A, Rauz S, van Rhijn BD, Roth M, Setterfield J, Zillikens D, C Prost, Zambruno G, Horváth B, Caux F
J Eur Acad Dermatol Venereol 2021 Oct;35(10):1926-1948. Epub 2021 Jul 26 doi: 10.1111/jdv.17395. PMID: 34309078Free PMC Article
JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study.
Le Voyer T, Gitiaux C, Authier FJ, Bodemer C, Melki I, Quartier P, Aeschlimann F, Isapof A, Herbeuval JP, Bondet V, Charuel JL, Frémond ML, Duffy D, Rodero MP, Bader-Meunier B
Rheumatology (Oxford) 2021 Dec 1;60(12):5801-5808. doi: 10.1093/rheumatology/keab116. PMID: 33576769

Prognosis

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
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
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
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

Clinical prediction guides

Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa.
So JY, Nazaroff J, Iwummadu CV, Harris N, Gorell ES, Fulchand S, Bailey I, McCarthy D, Siprashvili Z, Marinkovich MP, Tang JY, Chiou AS
Orphanet J Rare Dis 2022 Oct 17;17(1):377. doi: 10.1186/s13023-022-02546-9. PMID: 36253825Free PMC Article
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
JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study.
Le Voyer T, Gitiaux C, Authier FJ, Bodemer C, Melki I, Quartier P, Aeschlimann F, Isapof A, Herbeuval JP, Bondet V, Charuel JL, Frémond ML, Duffy D, Rodero MP, Bader-Meunier B
Rheumatology (Oxford) 2021 Dec 1;60(12):5801-5808. doi: 10.1093/rheumatology/keab116. PMID: 33576769
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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