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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).
Autosomal recessive inheritance (Orphanet)
 
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

New developments in the molecular treatment of ichthyosis: review of the literature.
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
ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.
Esperón-Moldes U, Ginarte M, Rodríguez-Pazos L, Fachal L, Pozo T, Aguilar JL, Del Boz González J, Santiago AM, Vega A
J Dermatol Sci 2018 Sep;91(3):328-331. Epub 2018 Jun 5 doi: 10.1016/j.jdermsci.2018.05.012. PMID: 29887490
Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.
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

Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.
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
Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis.
El Helou J, Perry TB, Anastasio N, Holbrook KA, Rosenblatt DS
Mol Genet Metab 2022 Apr;135(4):309-310. Epub 2022 Feb 18 doi: 10.1016/j.ymgme.2022.02.004. PMID: 35216886
Nail involvement in autosomal recessive congenital ichthyosis.
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
Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Autosomal recessive congenital ichthyosis.
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

Nail involvement in autosomal recessive congenital ichthyosis.
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
Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.
Akbar A, Bint-E-Farrakh M, Crosby AH, Gul A, Harlalka GV
Congenit Anom (Kyoto) 2020 Sep;60(5):149-150. Epub 2020 Jan 9 doi: 10.1111/cga.12366. PMID: 31883158
Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis.
Polubothu S, Glover M, Holder SE, Kinsler VA
Br J Dermatol 2018 Nov;179(5):1214-1215. Epub 2018 Sep 20 doi: 10.1111/bjd.16999. PMID: 30007077Free PMC Article
Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Autosomal recessive congenital ichthyosis.
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

Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.
Poulton C, Gration D, Murray K, Baynam G, Halbert A
Pediatr Dermatol 2019 Nov;36(6):1002-1003. Epub 2019 Sep 18 doi: 10.1111/pde.13995. PMID: 31532840
Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.
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
Vitamin D: A New Promising Therapy for Congenital Ichthyosis.
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
Short stature with congenital ichthyosis.
Lakhani SJ, Lakhani OJ
BMJ Case Rep 2015 Dec 9;2015 doi: 10.1136/bcr-2015-212610. PMID: 26661284Free PMC Article
Anti-laminin-γ1 pemphigoid developed in a case of autosomal recessive congenital ichthyosis.
Ohzono A, Numata S, Hamada T, Fukuda S, Teye K, Shirakashi Y, Kasai H, Koga H, Ishii N, Sugiura M, Hashimoto T
Acta Derm Venereol 2015 Jan;95(1):93-4. doi: 10.2340/00015555-1875. PMID: 24733442

Prognosis

Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
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
Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis.
El Helou J, Perry TB, Anastasio N, Holbrook KA, Rosenblatt DS
Mol Genet Metab 2022 Apr;135(4):309-310. Epub 2022 Feb 18 doi: 10.1016/j.ymgme.2022.02.004. PMID: 35216886
Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing.
Karim N, Ullah A, Murtaza G, Naeem M
Genet Test Mol Biomarkers 2019 Jun;23(6):428-432. Epub 2019 May 13 doi: 10.1089/gtmb.2018.0310. PMID: 31081706
Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.
Rahman SB, Mir A, Ahmad N, Haider SH, Malik SA, Nasir M
Congenit Anom (Kyoto) 2019 May;59(3):93-98. Epub 2018 Jul 18 doi: 10.1111/cga.12303. PMID: 29935003Free PMC Article
Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.
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

Clinical prediction guides

Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe In Situ Gene Editing in Human Skin.
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
Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
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
High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect.
González-Del Carmen M, Montaño S, Reyes-Hernández OD, Vizcaíno-Dorado PA, Leyva-García N, Morales-Morfín JC, Diaz-Beltran W, Quinto-Santiago E, Cariño-Calvo L, Magaña JJ, Leyva-Gómez G, Cortés H
Int J Dermatol 2020 Aug;59(8):969-977. Epub 2020 May 21 doi: 10.1111/ijd.14952. PMID: 32436339
Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.
Rahman SB, Mir A, Ahmad N, Haider SH, Malik SA, Nasir M
Congenit Anom (Kyoto) 2019 May;59(3):93-98. Epub 2018 Jul 18 doi: 10.1111/cga.12303. PMID: 29935003Free PMC Article
A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.
Vaigundan D, Kalmankar NV, Krishnappa J, Gowda NY, Kutty AV, Krishnaswamy PR
Biomed Res Int 2014;2014:706827. Epub 2014 Aug 10 doi: 10.1155/2014/706827. PMID: 25180191Free PMC Article

Recent systematic reviews

A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris.
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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