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Autosomal recessive congenital ichthyosis 7(ARCI7)

MedGen UID:
767262
Concept ID:
C3554348
Disease or Syndrome
Synonym: ARCI7
 
Monarch Initiative: MONDO:0014009
OMIM®: 615022

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 a 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
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Epidermal acanthosis
MedGen UID:
65136
Concept ID:
C0221270
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Hypergranulosis
MedGen UID:
481177
Concept ID:
C3279547
Finding
Hypergranulosis is an increased thickness of the stratum granulosum.

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
Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA
Br J Dermatol 2020 Mar;182(3):729-737. Epub 2019 Aug 26 doi: 10.1111/bjd.18211. PMID: 31168818
Lima Cunha D, Alakloby OM, Gruber R, Kakar N, Ahmad J, Alawbathani S, Plank R, Eckl K, Krabichler B, Altmüller J, Nürnberg P, Zschocke J, Borck G, Schmuth M, Alabdulkareem AS, Abdulaziz Alnutaifi K, Hennies HC
Mol Genet Genomic Med 2019 Mar;7(3):e539. Epub 2019 Jan 1 doi: 10.1002/mgg3.539. PMID: 30600594Free PMC Article

Recent clinical studies

Etiology

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
Uitto J, Youssefian L, Saeidian AH, Vahidnezhad H
Acta Derm Venereol 2020 Mar 25;100(7):adv00095. doi: 10.2340/00015555-3431. PMID: 32147742Free PMC Article
Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA
Br J Dermatol 2020 Mar;182(3):729-737. Epub 2019 Aug 26 doi: 10.1111/bjd.18211. PMID: 31168818
Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E
Clin Exp Dermatol 2013 Dec;38(8):911-6. Epub 2013 Apr 26 doi: 10.1111/ced.12148. PMID: 23621129
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article

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
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
Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA
Br J Dermatol 2020 Mar;182(3):729-737. Epub 2019 Aug 26 doi: 10.1111/bjd.18211. PMID: 31168818
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article
Akiyama M
J Dermatol Sci 2006 May;42(2):83-9. Epub 2006 Feb 14 doi: 10.1016/j.jdermsci.2006.01.003. PMID: 16481150

Therapy

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
Ugezu CH, Mazumdar A, Dunn E, Das A
Ir Med J 2017 Aug 8;110(7):606. PMID: 29341518
Tirant M, Bayer P, Hercogovấ J, Fioranelli M, Gianfaldoni S, Chokoeva AA, Tchernev G, Wollina U, Novotny F, Roccia MG, Maximov GK, França K, Lotti T
J Biol Regul Homeost Agents 2016 Apr-Jun;30(2 Suppl 3):65-72. PMID: 27498660
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
Chang LM, Reyes M
Dermatol Online J 2014 Feb 18;20(2) PMID: 24612573

Prognosis

Serra G, Memo L, Cavicchioli P, Cutrone M, Giuffrè M, La Torre ML, Schierz IAM, Corsello G
Ital J Pediatr 2022 Aug 13;48(1):145. doi: 10.1186/s13052-022-01336-0. PMID: 35964051Free PMC Article
Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA
Br J Dermatol 2020 Mar;182(3):729-737. Epub 2019 Aug 26 doi: 10.1111/bjd.18211. PMID: 31168818
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
Chen YW, Wang JK, Chou FP, Wu BY, Hsiao HC, Chiu H, Xu Z, Baksh ANH, Shi G, Kaul M, Barndt R, Shanmugam VK, Johnson MD, Lin CY
J Invest Dermatol 2014 Feb;134(2):405-414. Epub 2013 Jul 26 doi: 10.1038/jid.2013.320. PMID: 23900022Free PMC Article
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article

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
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
Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA
Br J Dermatol 2020 Mar;182(3):729-737. Epub 2019 Aug 26 doi: 10.1111/bjd.18211. PMID: 31168818
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

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