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Congenital ichthyosis of skin

MedGen UID:
43813
Concept ID:
C0020758
Disease or Syndrome
Synonyms: Ichthyosis Congenita; Lamellar Exfoliation of Newborn; Newborn Lamellar Exfoliation; Newborn Lamellar Exfoliations
SNOMED CT: Congenital ichthyosis of skin (13059002); Ichthyosis congenita (13059002); Congenital ichthyosis (13059002); Fish scale disease (13059002); Fish skin (13059002)
 
Genes (locations): CASP14 (19p13.12); SDR9C7 (12q13.3)
Related genes: LIPN, NIPAL4, PNPLA1, CERS3, CYP4F22, ALOXE3, ABCA12, TGM1, ALOX12B
 
OMIM®: 242300

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 MedlinePlus Genetics
Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures).  https://medlineplus.gov/genetics/condition/lamellar-ichthyosis

Professional guidelines

PubMed

Joosten MDW, Clabbers JMK, Jonca N, Mazereeuw-Hautier J, Gostyński AH
Orphanet J Rare Dis 2022 Jul 15;17(1):269. doi: 10.1186/s13023-022-02430-6. PMID: 35840979Free PMC Article
Zaenglein AL, Levy ML, Stefanko NS, Benjamin LT, Bruckner AL, Choate K, Craiglow BG, DiGiovanna JJ, Eichenfield LF, Elias P, Fleckman P, Lawley LP, Lewis RA, Lucky AW, Mathes EF, Milstone LM, Paller AS, Patel SS, Siegel DH, Teng J, Tanumihardjo SA, Thaxton L, Williams ML; PeDRA Use of Retinoids in Ichthyosis Work Group
Pediatr Dermatol 2021 Jan;38(1):164-180. Epub 2020 Nov 10 doi: 10.1111/pde.14408. PMID: 33169909Free PMC Article
Freedman JC, Parry TJ, Zhang P, Majumdar A, Krishnan S, Regula LK, O'Malley M, Coghlan S, Yogesha SD, Ramasamy S, Agarwal P
J Invest Dermatol 2021 Apr;141(4):874-882.e6. Epub 2020 Sep 22 doi: 10.1016/j.jid.2020.07.035. PMID: 32976879

Recent clinical studies

Etiology

Wren G, Baker E, Underwood J, Humby T, Thompson A, Kirov G, Escott-Price V, Davies W
J Med Genet 2023 Jul;60(7):636-643. Epub 2022 Nov 15 doi: 10.1136/jmg-2022-108862. PMID: 36379544Free PMC Article
de Koning TJ
J Inherit Metab Dis 2017 Jul;40(4):609-620. Epub 2017 Jun 26 doi: 10.1007/s10545-017-0063-1. PMID: 28653176Free PMC Article
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Cury Martins J, Martins C, Aoki V, Gois AF, Ishii HA, da Silva EM
Cochrane Database Syst Rev 2015 Jul 1;2015(7):CD009864. doi: 10.1002/14651858.CD009864.pub2. PMID: 26132597Free PMC Article
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article

Diagnosis

Nat Rev Dis Primers 2023 Jan 19;9(1):3. doi: 10.1038/s41572-023-00419-4. PMID: 36658163
Wu YC, Yao Q
JAMA Dermatol 2023 Feb 1;159(2):210. doi: 10.1001/jamadermatol.2022.5112. PMID: 36576743
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Akhdari N, Ouladsiad M, Aboussad A, Amal S
Skinmed 2010 Nov-Dec;8(6):371-2. PMID: 21413658
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article

Therapy

Baldo F, Brena M, Carbogno S, Minoia F, Lanni S, Guez S, Petaccia A, Agostoni C, Cimaz R, Filocamo G
Pediatr Rheumatol Online J 2021 Jun 3;19(1):80. doi: 10.1186/s12969-021-00571-9. PMID: 34082764Free PMC Article
Guenther LC, Kunynetz R, Lynde CW, Sibbald RG, Toole J, Vender R, Zip C
J Cutan Med Surg 2017 Nov/Dec;21(3_suppl):2S-12S. Epub 2017 Sep 27 doi: 10.1177/1203475417733414. PMID: 28952335
Cury Martins J, Martins C, Aoki V, Gois AF, Ishii HA, da Silva EM
Cochrane Database Syst Rev 2015 Jul 1;2015(7):CD009864. doi: 10.1002/14651858.CD009864.pub2. PMID: 26132597Free PMC Article
Kress DW
Curr Opin Pediatr 2011 Aug;23(4):403-6. doi: 10.1097/MOP.0b013e3283483efd. PMID: 21670682
Rood MJ, Lavrijsen SP, Huizinga TW
J Rheumatol 2007 Apr;34(4):837-8. PMID: 17407234

Prognosis

De Majo F, Hegenbarth JC, Rühle F, Bär C, Thum T, de Boer M, Duncker DJ, Schroen B, Armand AS, Stoll M, De Windt LJ
Sci Rep 2020 May 18;10(1):8136. doi: 10.1038/s41598-020-65115-9. PMID: 32424227Free PMC Article
Cury Martins J, Martins C, Aoki V, Gois AF, Ishii HA, da Silva EM
Cochrane Database Syst Rev 2015 Jul 1;2015(7):CD009864. doi: 10.1002/14651858.CD009864.pub2. PMID: 26132597Free PMC Article
Akhdari N, Ouladsiad M, Aboussad A, Amal S
Skinmed 2010 Nov-Dec;8(6):371-2. PMID: 21413658
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Clinical prediction guides

Arai A, Takeichi T, Wakamoto H, Sassa T, Ito Y, Murase Y, Ogi T, Akiyama M, Kihara A
J Dermatol Sci 2022 Sep;107(3):114-122. Epub 2022 Aug 9 doi: 10.1016/j.jdermsci.2022.08.003. PMID: 35973883
de Koning TJ
J Inherit Metab Dis 2017 Jul;40(4):609-620. Epub 2017 Jun 26 doi: 10.1007/s10545-017-0063-1. PMID: 28653176Free PMC Article
Cury Martins J, Martins C, Aoki V, Gois AF, Ishii HA, da Silva EM
Cochrane Database Syst Rev 2015 Jul 1;2015(7):CD009864. doi: 10.1002/14651858.CD009864.pub2. PMID: 26132597Free PMC Article
Thyssen JP, Kezic S
J Allergy Clin Immunol 2014 Oct;134(4):792-9. Epub 2014 Jul 25 doi: 10.1016/j.jaci.2014.06.014. PMID: 25065719
Smith F
Am J Clin Dermatol 2003;4(5):347-64. doi: 10.2165/00128071-200304050-00005. PMID: 12688839

Recent systematic reviews

Hernández-Martín A, González-Sarmiento R
Curr Opin Pediatr 2015 Aug;27(4):473-9. doi: 10.1097/MOP.0000000000000239. PMID: 26164154
Cury Martins J, Martins C, Aoki V, Gois AF, Ishii HA, da Silva EM
Cochrane Database Syst Rev 2015 Jul 1;2015(7):CD009864. doi: 10.1002/14651858.CD009864.pub2. PMID: 26132597Free PMC Article
Hernández-Martin A, Aranegui B, Martin-Santiago A, Garcia-Doval I
J Am Acad Dermatol 2013 Oct;69(4):544-549.e8. Epub 2013 Jul 16 doi: 10.1016/j.jaad.2013.05.017. PMID: 23870202
Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L
J Am Acad Dermatol 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. PMID: 18571597Free PMC Article

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