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Autosomal recessive congenital ichthyosis(ARCI)

MedGen UID:
697564
Concept ID:
C1274215
Congenital Abnormality
Synonym: ARCI
SNOMED CT: Autosomal recessive ichthyosis (402772005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0017265
OMIM® Phenotypic series: PS242300
Orphanet: ORPHA281097

Definition

Autosomal recessive form of inherited ichthyosis. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive congenital ichthyosis

Professional guidelines

PubMed

Joosten MDW, Clabbers JMK, Jonca N, Mazereeuw-Hautier J, Gostyński AH
Orphanet J Rare Dis 2022 Jul 15;17(1):269. doi: 10.1186/s13023-022-02430-6. PMID: 35840979Free PMC Article
Vahlquist A, Fischer J, Törmä H
Am J Clin Dermatol 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x. PMID: 28815464Free PMC Article
Shibata A, Akiyama M
Pediatr Int 2015 Aug;57(4):516-22. Epub 2015 Jul 14 doi: 10.1111/ped.12638. PMID: 25857373

Recent clinical studies

Etiology

Supsrisunjai C, Bunnag T, Chaowalit P, Boonpuen N, Kootiratrakarn T, Wessagowit V
Pediatr Dermatol 2023 Jan;40(1):107-112. Epub 2022 Oct 19 doi: 10.1111/pde.15156. PMID: 36262015
Mohamad J, Samuelov L, Assaf S, Malki L, Malovitski K, Meijers O, Adir N, Granot E, Pavlovsky M, Sarig O, Sprecher E
Am J Med Genet A 2022 Oct;188(10):2879-2887. Epub 2022 Aug 3 doi: 10.1002/ajmg.a.62924. PMID: 35920354
Zaouak A, Chamli A, Ben Mansour N, Jouini W, Fenniche S, Hammami H
Clin Dermatol 2022 Jul-Aug;40(4):388-394. Epub 2022 Feb 15 doi: 10.1016/j.clindermatol.2022.02.012. PMID: 35181410
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J
Actas Dermosifiliogr 2013 May;104(4):270-84. Epub 2013 Apr 3 doi: 10.1016/j.adengl.2011.11.021. PMID: 23562412

Diagnosis

Supsrisunjai C, Bunnag T, Chaowalit P, Boonpuen N, Kootiratrakarn T, Wessagowit V
Pediatr Dermatol 2023 Jan;40(1):107-112. Epub 2022 Oct 19 doi: 10.1111/pde.15156. PMID: 36262015
Mohamad J, Samuelov L, Assaf S, Malki L, Malovitski K, Meijers O, Adir N, Granot E, Pavlovsky M, Sarig O, Sprecher E
Am J Med Genet A 2022 Oct;188(10):2879-2887. Epub 2022 Aug 3 doi: 10.1002/ajmg.a.62924. PMID: 35920354
Zaouak A, Chamli A, Ben Mansour N, Jouini W, Fenniche S, Hammami H
Clin Dermatol 2022 Jul-Aug;40(4):388-394. Epub 2022 Feb 15 doi: 10.1016/j.clindermatol.2022.02.012. PMID: 35181410
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J
Actas Dermosifiliogr 2013 May;104(4):270-84. Epub 2013 Apr 3 doi: 10.1016/j.adengl.2011.11.021. PMID: 23562412

Therapy

Murase Y, Takeichi T, Kawamoto A, Tanahashi K, Okuno Y, Takama H, Shimizu E, Ishikawa J, Ogi T, Akiyama M
J Dermatol Sci 2020 Jan;97(1):50-56. Epub 2019 Dec 4 doi: 10.1016/j.jdermsci.2019.12.001. PMID: 31836270
Karim N, Durbin-Johnson B, Rocke DM, Salemi M, Phinney BS, Naeem M, Rice RH
J Proteomics 2019 Jun 15;201:104-109. Epub 2019 Apr 10 doi: 10.1016/j.jprot.2019.04.007. PMID: 30978464
Kurosawa M, Uehara R, Takagi A, Aoyama Y, Iwatsuki K, Amagai M, Nagai M, Nakamura Y, Inaba Y, Yokoyama K, Ikeda S
J Am Acad Dermatol 2019 Nov;81(5):1086-1092.e1. Epub 2018 Sep 26 doi: 10.1016/j.jaad.2018.07.056. PMID: 30268591
Vahlquist A, Fischer J, Törmä H
Am J Clin Dermatol 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x. PMID: 28815464Free PMC Article
Sethuraman G, Marwaha RK, Challa A, Yenamandra VK, Ramakrishnan L, Thulkar S, Sharma VK
Pediatrics 2016 Jan;137(1) Epub 2015 Dec 31 doi: 10.1542/peds.2015-1313. PMID: 26721572

Prognosis

Mohamad J, Samuelov L, Assaf S, Malki L, Malovitski K, Meijers O, Adir N, Granot E, Pavlovsky M, Sarig O, Sprecher E
Am J Med Genet A 2022 Oct;188(10):2879-2887. Epub 2022 Aug 3 doi: 10.1002/ajmg.a.62924. PMID: 35920354
Li L, Liu W, Xu Y, Li M, Tang Q, Yu B, Cai R, Liu S
Mol Genet Genomic Med 2020 Feb;8(2):e1076. Epub 2019 Dec 13 doi: 10.1002/mgg3.1076. PMID: 31833240Free PMC Article
Vahlquist A, Fischer J, Törmä H
Am J Clin Dermatol 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x. PMID: 28815464Free PMC Article
Wakil SM, Binamer Y, Al-Dossari H, Al-Humaidy R, Thuraya RA, Khalifa O, Finsterer J, Meyer BF, Al Owain M
Int J Dermatol 2016 Jun;55(6):673-9. Epub 2016 Apr 7 doi: 10.1111/ijd.13279. PMID: 27061915
Shibata A, Akiyama M
Pediatr Int 2015 Aug;57(4):516-22. Epub 2015 Jul 14 doi: 10.1111/ped.12638. PMID: 25857373

Clinical prediction guides

Bolsoni J, Liu D, Mohabatpour F, Ebner R, Sadhnani G, Tafech B, Leung J, Shanta S, An K, Morin T, Chen Y, Arguello A, Choate K, Jan E, Ross CJD, Brambilla D, Witzigmann D, Kulkarni J, Cullis PR, Hedtrich S
ACS Nano 2023 Nov 14;17(21):22046-22059. Epub 2023 Nov 2 doi: 10.1021/acsnano.3c08644. PMID: 37918441Free PMC Article
Mohamad J, Samuelov L, Assaf S, Malki L, Malovitski K, Meijers O, Adir N, Granot E, Pavlovsky M, Sarig O, Sprecher E
Am J Med Genet A 2022 Oct;188(10):2879-2887. Epub 2022 Aug 3 doi: 10.1002/ajmg.a.62924. PMID: 35920354
Abeni D, Rotunno R, Diociaiuti A, Giancristoforo S, Bonamonte D, Filoni A, Schepis C, Siragusa M, Neri I, Virdi A, Castiglia D, Zambruno G, Bodemer C, El Hachem M
Acta Derm Venereol 2021 Jun 22;101(6):adv00477. doi: 10.2340/00015555-3822. PMID: 33954798Free PMC Article
Youssefian L, Niaziorimi F, Saeidian AH, South AP, Khosravi-Bachehmir F, Khodavaisy S, Vahidnezhad H, Uitto J
J Invest Dermatol 2021 Jul;141(7):1754-1764.e1. Epub 2021 Jan 7 doi: 10.1016/j.jid.2020.11.030. PMID: 33422619
Li L, Liu W, Xu Y, Li M, Tang Q, Yu B, Cai R, Liu S
Mol Genet Genomic Med 2020 Feb;8(2):e1076. Epub 2019 Dec 13 doi: 10.1002/mgg3.1076. PMID: 31833240Free PMC Article

Recent systematic reviews

Hernández-Martin A, Aranegui B, Martin-Santiago A, Garcia-Doval I
J Am Acad Dermatol 2013 Oct;69(4):544-549.e8. Epub 2013 Jul 16 doi: 10.1016/j.jaad.2013.05.017. PMID: 23870202

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