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Ichthyosis, congenital, autosomal recessive 13(ARCI13)

MedGen UID:
1620886
•Concept ID:
C4539772
•
Congenital Abnormality
Synonyms: ARCI13; ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
 
Gene (location): SDR9C7 (12q13.3)
 
Monarch Initiative: MONDO:0033092
OMIM®: 617574

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
•Concept ID:
C0022596
•
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
See: Feature record | Search on this feature
Onychomycosis
MedGen UID:
11825
•Concept ID:
C0040261
•
Disease or Syndrome
A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Hypergranulosis
MedGen UID:
481177
•Concept ID:
C3279547
•
Finding
Hypergranulosis is an increased thickness of the stratum granulosum.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
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
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
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
Difficult diagnoses in an austere environment: a clinical vignette ?the presentation, diagnosis, and management of ichthyosis.
Pickard-Gabriel CJ, Rudinsky S
J Spec Oper Med 2013 Spring;13(1):61-5. PMID: 23526325

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
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
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
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Youssefian L, Vahidnezhad H, Saeidian AH, Touati A, Sotoudeh S, Mahmoudi H, Mansouri P, Daneshpazhooh M, Aghazadeh N, Hesari KK, Basiri M, Londin E, Kumar G, Zeinali S, Fortina P, Uitto J
Hum Mutat 2019 Mar;40(3):288-298. Epub 2019 Jan 16 doi: 10.1002/humu.23695. PMID: 30578701
Whole-exome sequencing for diagnosis of hereditary ichthyosis.
Sitek JC, Kulseth MA, Rypdal KB, Skodje T, Sheng Y, Retterstøl L
J Eur Acad Dermatol Venereol 2018 Jun;32(6):1022-1027. Epub 2018 Mar 9 doi: 10.1111/jdv.14870. PMID: 29444371
Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.
Liu JJ, Yuan YY, Zhang XQ, Li ZM, Xu YS, Gao SM, Cai JF, Shao XH, Lin XH, Li BX
Clin Exp Dermatol 2015 Jan;40(1):56-62. Epub 2014 Aug 22 doi: 10.1111/ced.12410. PMID: 25154629

Diagnosis

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
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
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
The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.
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
Whole-exome sequencing for diagnosis of hereditary ichthyosis.
Sitek JC, Kulseth MA, Rypdal KB, Skodje T, Sheng Y, Retterstøl L
J Eur Acad Dermatol Venereol 2018 Jun;32(6):1022-1027. Epub 2018 Mar 9 doi: 10.1111/jdv.14870. PMID: 29444371
Lamellar ichthyosis.
Victor F, Schaffer JV
Dermatol Online J 2005 Dec 30;11(4):13. PMID: 16403385

Therapy

Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis.
O'Shaughnessy RF, Choudhary I, Harper JI
Hum Mol Genet 2010 Jul 1;19(13):2594-605. Epub 2010 Apr 12 doi: 10.1093/hmg/ddq145. PMID: 20385541
Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.
Haug S, Braun-Falco M
Gene Ther 2006 Jul;13(13):1021-6. Epub 2006 Mar 9 doi: 10.1038/sj.gt.3302743. PMID: 16525484

Prognosis

Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
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
Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis.
Hartley IR, Costa Beber Nunes J, Lodish M, Stratakis CA
J Pediatr Endocrinol Metab 2019 Aug 27;32(8):911-914. doi: 10.1515/jpem-2019-0055. PMID: 31256066Free PMC Article
Increased melanocytic nevi in patients with inherited ichthyoses: report of a previously undescribed association.
Fernandes JD, Machado MC, Oliveira ZN
Pediatr Dermatol 2010 Sep-Oct;27(5):453-8. doi: 10.1111/j.1525-1470.2010.01092.x. PMID: 20561241
A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis.
Boeshans KM, Mueser TC, Ahvazi B
J Mol Model 2007 Jan;13(1):233-46. Epub 2006 Sep 23 doi: 10.1007/s00894-006-0144-9. PMID: 17024410
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, Hamel-Teillac D, Ansai S, Mitsuhashi Y, Taïeb A, de Prost Y, Zambruno G, Harper JI, Hovnanian A
J Invest Dermatol 2002 Feb;118(2):352-61. doi: 10.1046/j.1523-1747.2002.01603.x. PMID: 11841556

Clinical prediction guides

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.
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
Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Mohamad J, Nanda A, Pavlovsky M, Peled A, Malchin N, Malovitski K, Pramanik R, Weissglas-Volkov D, Shomron N, McGrath J, Sprecher E, Sarig O
Exp Dermatol 2020 Aug;29(8):742-748. Epub 2020 Jul 20 doi: 10.1111/exd.14140. PMID: 32618001
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
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
An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis.
Paller AS, Renert-Yuval Y, Suprun M, Esaki H, Oliva M, Huynh TN, Ungar B, Kunjravia N, Friedland R, Peng X, Zheng X, Estrada YD, Krueger JG, Choate KA, Suárez-Fariñas M, Guttman-Yassky E
J Allergy Clin Immunol 2017 Jan;139(1):152-165. Epub 2016 Aug 20 doi: 10.1016/j.jaci.2016.07.019. PMID: 27554821Free PMC Article
Threshold levels of 25-hydroxyvitamin D and parathyroid hormone for impaired bone health in children with congenital ichthyosis and type IV and V skin.
Sethuraman G, Sreenivas V, Yenamandra VK, Gupta N, Sharma VK, Marwaha RK, Bhari N, Irshad M, Kabra M, Thulkar S
Br J Dermatol 2015 Jan;172(1):208-14. Epub 2014 Dec 30 doi: 10.1111/bjd.13131. PMID: 24864027

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