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Ichthyosis, congenital, autosomal recessive 12(ARCI12)

MedGen UID:
934588
Concept ID:
C4310621
Disease or Syndrome
Synonym: ARCI12
 
Gene (location): CASP14 (19p13.12)
 
Monarch Initiative: MONDO:0015018
OMIM®: 617320

Authors:
Gabriele Richard   view full author information

Additional descriptions

From GeneReviews Overview
Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.
From OMIM
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). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).  http://www.omim.org/entry/617320
From MedlinePlus Genetics
Some people with NBCIE have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma), decreased or absent sweating (anhidrosis), and abnormal nails (nail dystrophy). In severe cases, there is an absence of hair growth (alopecia) in certain areas, often affecting the scalp and eyebrows.

In individuals with NBCIE, some of the skin problems may improve by adulthood. Life expectancy is normal in people with NBCIE.

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Many infants with this condition are born with a tight, clear sheath covering their skin called a collodion membrane. Constriction by the membrane may cause the lips and eyelids to be turned out so the inner surface is exposed. The collodion membrane is usually shed during the first few weeks of life. Following shedding of the collodion membrane, the skin is red (erythroderma) and covered with fine, white scales (ichthyosis). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life.  https://medlineplus.gov/genetics/condition/nonbullous-congenital-ichthyosiform-erythroderma

Clinical features

From HPO
White scaling skin
MedGen UID:
892516
Concept ID:
C4073146
Finding

Professional guidelines

PubMed

Takeichi T, Ohno Y, Tanahashi K, Ito Y, Shiraishi K, Utsunomiya R, Yoshida S, Ikeda K, Nomura H, Morizane S, Sayama K, Ogi T, Muro Y, Kihara A, Akiyama M
J Lipid Res 2022 Dec;63(12):100308. Epub 2022 Nov 1 doi: 10.1016/j.jlr.2022.100308. PMID: 36332686Free PMC Article
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
Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, Glick SA
Pediatrics 2017 Jan;139(1) Epub 2016 Dec 20 doi: 10.1542/peds.2016-1003. PMID: 27999114

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
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
Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, Glick SA
Pediatrics 2017 Jan;139(1) Epub 2016 Dec 20 doi: 10.1542/peds.2016-1003. PMID: 27999114
Traupe H, Fischer J, Oji V
J Dtsch Dermatol Ges 2014 Feb;12(2):109-21. Epub 2013 Oct 11 doi: 10.1111/ddg.12229. PMID: 24119255
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

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
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
Sugiura K, Akiyama M
J Dermatol Sci 2015 Jul;79(1):4-9. Epub 2015 Apr 30 doi: 10.1016/j.jdermsci.2015.04.009. PMID: 25982146
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
Victor F, Schaffer JV
Dermatol Online J 2005 Dec 30;11(4):13. PMID: 16403385

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
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
Zvulunov A, Cagnano E, Kachko L, Shorer Z, Elbedour K, Stevens H
Pediatr Dermatol 2002 Sep-Oct;19(5):382-7. doi: 10.1046/j.1525-1470.2002.00111.x. PMID: 12383092
Hofmann B, Stege H, Ruzicka T, Lehmann P
Br J Dermatol 1999 Oct;141(4):642-6. doi: 10.1046/j.1365-2133.1999.03101.x. PMID: 10583110

Prognosis

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
Ugezu CH, Mazumdar A, Dunn E, Das A
Ir Med J 2017 Aug 8;110(7):606. PMID: 29341518
Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, Glick SA
Pediatrics 2017 Jan;139(1) Epub 2016 Dec 20 doi: 10.1542/peds.2016-1003. PMID: 27999114
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
Arch Dermatol 1985 Apr;121(4):477-88. doi: 10.1001/archderm.121.4.477. PMID: 3977371

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
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
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
Dufresne H, Hadj-Rabia S, Méni C, Sibaud V, Bodemer C, Taïeb C
Orphanet J Rare Dis 2013 Feb 15;8:28. doi: 10.1186/1750-1172-8-28. PMID: 23414570Free 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

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