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Autosomal recessive congenital ichthyosis 11(ARIH; IFAH; ARCI11)

MedGen UID:
332073
Concept ID:
C1835851
Disease or Syndrome
Synonym: Ichthyosis with hypotrichosis, autosomal recessive
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).
 
Gene (location): ST14 (11q24.3)
 
Monarch Initiative: MONDO:0011218
OMIM®: 602400
Orphanet: ORPHA91132

Definition

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). [from OMIM]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Blepharitis
MedGen UID:
598
Concept ID:
C0005741
Disease or Syndrome
Inflammation of the eyelids.
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Conical primary incisor
MedGen UID:
892295
Concept ID:
C4023543
Finding
An abnormal conical morphology of the primary incisor.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Congenital ichthyosiform erythroderma
MedGen UID:
86936
Concept ID:
C0079583
Disease or Syndrome
An ichthyosiform abnormality of the skin with congenital onset.
Brittle hair
MedGen UID:
120480
Concept ID:
C0263490
Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Pili torti
MedGen UID:
82670
Concept ID:
C0263491
Finding
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
Curly hair
MedGen UID:
488919
Concept ID:
C0558165
Finding
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Sparse body hair
MedGen UID:
350775
Concept ID:
C1862863
Finding
Sparseness of the body hair.
Curly eyelashes
MedGen UID:
382159
Concept ID:
C2673670
Finding
Abnormally curly or curved eyelashes.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive congenital ichthyosis 11

Professional guidelines

PubMed

Chiramel MJ, Mathew L, Athirayath R, Chapla A, Sathishkumar D, Mani T, Danda S, George R
Pediatr Dermatol 2022 May;39(3):420-424. Epub 2022 Apr 12 doi: 10.1111/pde.14944. PMID: 35412663
Ennouri M, Zimmer AD, Bahloul E, Chaabouni R, Marrakchi S, Turki H, Fakhfakh F, Bougacha-Elleuch N, Fischer J
BMC Med Genomics 2022 Jan 5;15(1):4. doi: 10.1186/s12920-021-01154-z. PMID: 34983512Free PMC Article
Khalil S, Bardawil T, Saade S, Chedraoui A, Ramadan N, Hasbani DJ, Abbas O, Nemer G, Rubeiz N, Kurban M
JAMA Dermatol 2018 Nov 1;154(11):1320-1323. doi: 10.1001/jamadermatol.2018.2904. PMID: 30208477Free PMC Article

Recent clinical studies

Etiology

Murrell DF, Teng JMC, Guenthner S, Marathe K, Kempers S, Eads K, Castelo-Soccio L, Mendelsohn AM, Raiz J, Bunick CG
Clin Exp Dermatol 2023 Jun 5;48(6):623-630. doi: 10.1093/ced/llad033. PMID: 36794376
Pietrzak A, Wawrzycki B, Schmuth M, Wertheim-Tysarowska K
Orphanet J Rare Dis 2022 Feb 16;17(1):53. doi: 10.1186/s13023-022-02207-x. PMID: 35172852Free PMC Article
Ennouri M, Zimmer AD, Bahloul E, Chaabouni R, Marrakchi S, Turki H, Fakhfakh F, Bougacha-Elleuch N, Fischer J
BMC Med Genomics 2022 Jan 5;15(1):4. doi: 10.1186/s12920-021-01154-z. PMID: 34983512Free 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
Pigg MH, Bygum A, Gånemo A, Virtanen M, Brandrup F, Zimmer AD, Hotz A, Vahlquist A, Fischer J
Acta Derm Venereol 2016 Nov 2;96(7):932-937. doi: 10.2340/00015555-2418. PMID: 27025581

Diagnosis

Chiramel MJ, Mathew L, Athirayath R, Chapla A, Sathishkumar D, Mani T, Danda S, George R
Pediatr Dermatol 2022 May;39(3):420-424. Epub 2022 Apr 12 doi: 10.1111/pde.14944. PMID: 35412663
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
Pigg MH, Bygum A, Gånemo A, Virtanen M, Brandrup F, Zimmer AD, Hotz A, Vahlquist A, Fischer J
Acta Derm Venereol 2016 Nov 2;96(7):932-937. doi: 10.2340/00015555-2418. PMID: 27025581
Victor F, Schaffer JV
Dermatol Online J 2005 Dec 30;11(4):13. PMID: 16403385
Rizzo WB
Semin Dermatol 1993 Sep;12(3):210-8. PMID: 8217559

Therapy

Murrell DF, Teng JMC, Guenthner S, Marathe K, Kempers S, Eads K, Castelo-Soccio L, Mendelsohn AM, Raiz J, Bunick CG
Clin Exp Dermatol 2023 Jun 5;48(6):623-630. doi: 10.1093/ced/llad033. PMID: 36794376
Khalil S, Bardawil T, Saade S, Chedraoui A, Ramadan N, Hasbani DJ, Abbas O, Nemer G, Rubeiz N, Kurban M
JAMA Dermatol 2018 Nov 1;154(11):1320-1323. doi: 10.1001/jamadermatol.2018.2904. PMID: 30208477Free PMC Article
Benmously-Mlika R, Zaouak A, Mrad R, Laaroussi N, Abdelhak S, Hovnanian A, Mokhtar I
Int J Dermatol 2014 Dec;53(12):1478-80. Epub 2014 Sep 10 doi: 10.1111/ijd.12569. PMID: 25209454
Dehghani SM, Bahador A, Nikeghbalian S, Salahi H, Geramizadeh B, Malekpour A, Malek-Hosseini SA
Exp Clin Transplant 2013 Jun;11(3):290-2. Epub 2012 Nov 22 doi: 10.6002/ect.2012.0202. PMID: 23190456

Prognosis

Frommherz L, Krause A, Kopp J, Hotz A, Hübner S, Reimer-Taschenbrecker A, Casetti F, Zirn B, Fischer J, Has C
J Eur Acad Dermatol Venereol 2021 Nov;35(11):2293-2299. Epub 2021 Jul 29 doi: 10.1111/jdv.17524. PMID: 34273205
Khalil S, Bardawil T, Saade S, Chedraoui A, Ramadan N, Hasbani DJ, Abbas O, Nemer G, Rubeiz N, Kurban M
JAMA Dermatol 2018 Nov 1;154(11):1320-1323. doi: 10.1001/jamadermatol.2018.2904. PMID: 30208477Free 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
Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR
J Med Genet 2009 Feb;46(2):103-11. Epub 2008 Oct 23 doi: 10.1136/jmg.2008.060905. PMID: 18948357Free PMC Article
Williams ML, Elias PM
J Clin Invest 1984 Jul;74(1):296-300. doi: 10.1172/JCI111415. PMID: 6736251Free PMC Article

Clinical prediction guides

Murrell DF, Teng JMC, Guenthner S, Marathe K, Kempers S, Eads K, Castelo-Soccio L, Mendelsohn AM, Raiz J, Bunick CG
Clin Exp Dermatol 2023 Jun 5;48(6):623-630. doi: 10.1093/ced/llad033. PMID: 36794376
Frommherz L, Krause A, Kopp J, Hotz A, Hübner S, Reimer-Taschenbrecker A, Casetti F, Zirn B, Fischer J, Has C
J Eur Acad Dermatol Venereol 2021 Nov;35(11):2293-2299. Epub 2021 Jul 29 doi: 10.1111/jdv.17524. PMID: 34273205
Khalil S, Bardawil T, Saade S, Chedraoui A, Ramadan N, Hasbani DJ, Abbas O, Nemer G, Rubeiz N, Kurban M
JAMA Dermatol 2018 Nov 1;154(11):1320-1323. doi: 10.1001/jamadermatol.2018.2904. PMID: 30208477Free PMC Article
Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR
J Med Genet 2009 Feb;46(2):103-11. Epub 2008 Oct 23 doi: 10.1136/jmg.2008.060905. PMID: 18948357Free PMC Article
Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Ozgüc M, Weissenbach J, Prud'homme JF
Am J Hum Genet 2000 Mar;66(3):904-13. doi: 10.1086/302814. PMID: 10712205Free PMC Article

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