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Ichthyosis, congenital, autosomal recessive 14(ARCI14)

MedGen UID:
1620129
Concept ID:
C4539754
Congenital Abnormality
Synonyms: ARCI14; ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
 
Gene (location): SULT2B1 (19q13.33)
 
Monarch Initiative: MONDO:0033091
OMIM®: 617571

Authors:
Gabriele Richard   view full author information

Clinical features

From HPO
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.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
38180
Concept ID:
C0079154
Disease or Syndrome
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Scaling skin
MedGen UID:
472970
Concept ID:
C0237849
Finding
Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
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.
Orthokeratotic hyperkeratosis
MedGen UID:
811321
Concept ID:
C3670629
Disease or Syndrome
A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.

Professional guidelines

PubMed

Diociaiuti A, Corbeddu M, Rossi S, Pisaneschi E, Cesario C, Condorelli AG, Samela T, Giancristoforo S, Angioni A, Zambruno G, Novelli A, Alaggio R, Abeni D, El Hachem M
Dermatology 2024;240(3):397-413. Epub 2024 Apr 8 doi: 10.1159/000536366. PMID: 38588653Free PMC Article
Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J
Genes (Basel) 2023 Mar 15;14(3) doi: 10.3390/genes14030717. PMID: 36980989Free 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

Recent clinical studies

Etiology

Diociaiuti A, Corbeddu M, Rossi S, Pisaneschi E, Cesario C, Condorelli AG, Samela T, Giancristoforo S, Angioni A, Zambruno G, Novelli A, Alaggio R, Abeni D, El Hachem M
Dermatology 2024;240(3):397-413. Epub 2024 Apr 8 doi: 10.1159/000536366. PMID: 38588653Free PMC Article
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
Zhao L, Wang C, Zhang Y, Li J, Liu H, Feng D
J Dermatol 2022 May;49(5):550-555. Epub 2022 Jan 11 doi: 10.1111/1346-8138.16300. PMID: 35014717
Mohamad J, Samuelov L, Malchin N, Rabinowitz T, Assaf S, Malki L, Malovitski K, Israeli S, Grafi-Cohen M, Bitterman-Deutsch O, Molho-Pessach V, Cohen-Barak E, Bach G, Garty BZ, Bergman R, Harel A, Nanda A, Lestringant GG, McGrath J, Shalev S, Shomron N, Mashiah J, Eskin-Schwartz M, Sprecher E, Sarig O
Exp Dermatol 2021 Sep;30(9):1290-1297. Epub 2021 Apr 15 doi: 10.1111/exd.14345. PMID: 33786896
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

Diagnosis

Diociaiuti A, Corbeddu M, Rossi S, Pisaneschi E, Cesario C, Condorelli AG, Samela T, Giancristoforo S, Angioni A, Zambruno G, Novelli A, Alaggio R, Abeni D, El Hachem M
Dermatology 2024;240(3):397-413. Epub 2024 Apr 8 doi: 10.1159/000536366. PMID: 38588653Free PMC Article
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
Ullah R, Ansar M, Durrani ZU, Lee K, Santos-Cortez RL, Muhammad D, Ali M, Zia M, Ayub M, Khan S, Smith JD, Nickerson DA, Shendure J, Bamshad M, Leal SM, Ahmad W
Int J Dermatol 2016 May;55(5):524-30. Epub 2015 Nov 17 doi: 10.1111/ijd.12950. PMID: 26578203Free PMC Article
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

Therapy

Henderson D, Murphy CA, O'Dea M, Boyle MA
BMJ Case Rep 2021 Aug 20;14(8) doi: 10.1136/bcr-2021-243348. PMID: 34417235Free PMC Article
Karim N, Durbin-Johnson B, Rocke DM, Salemi M, Phinney BS, Naeem M, Rice RH
J Proteomics 2019 Jun 15;201:104-109. Epub 2019 Apr 10 doi: 10.1016/j.jprot.2019.04.007. PMID: 30978464
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
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
Ruzicka T, Goerz G, Anton-Lamprecht I
Dermatologica 1981;162(2):124-36. doi: 10.1159/000250259. PMID: 7250456

Prognosis

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
Fachal L, Rodríguez-Pazos L, Ginarte M, Beiras A, Suárez-Peñaranda JM, Toribio J, Carracedo Á, Vega A
Int J Dermatol 2012 Apr;51(4):427-30. doi: 10.1111/j.1365-4632.2011.05171.x. PMID: 22435431
Goebl A, Ferrier RA, Ferreira P, Pinto-Rojas A, Matshes E, Choy FY
Pediatr Dev Pathol 2011 May-Jun;14(3):240-3. Epub 2010 Oct 14 doi: 10.2350/09-11-0744-CR.1. PMID: 20946052
Janecke AR, Hennies HC, Günther B, Gansl G, Smolle J, Messmer EM, Utermann G, Rittinger O
Am J Med Genet A 2005 Mar 1;133A(2):128-31. doi: 10.1002/ajmg.a.30515. PMID: 15633193
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

Clinical prediction guides

Diociaiuti A, Corbeddu M, Rossi S, Pisaneschi E, Cesario C, Condorelli AG, Samela T, Giancristoforo S, Angioni A, Zambruno G, Novelli A, Alaggio R, Abeni D, El Hachem M
Dermatology 2024;240(3):397-413. Epub 2024 Apr 8 doi: 10.1159/000536366. PMID: 38588653Free PMC Article
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
Alef T, Torres S, Hausser I, Metze D, Türsen U, Lestringant GG, Hennies HC
J Invest Dermatol 2009 Apr;129(4):862-9. Epub 2008 Oct 9 doi: 10.1038/jid.2008.311. PMID: 18843291
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
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

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