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Lamellar ichthyosis

MedGen UID:
1852191
•Concept ID:
C5848247
•
Disease or Syndrome
Synonyms: Collodion baby; Ichthyosis, congenital
SNOMED CT: Lamellar ichthyosis (205550003); Collodion baby (205550003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): SDR9C7 (12q13.3)
 
Monarch Initiative: MONDO:0017778
Orphanet: ORPHA313

Definition

Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLamellar ichthyosis

Professional guidelines

PubMed

Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Noda T, Takeichi T, Tanahashi K, Ogawa Y, Takeuchi S, Yoshikawa T, Toriyama E, Ashida M, Imakado S, Tsuchihashi H, Okamoto T, Okuno Y, Ogi T, Sugiura K, Kubo A, Muro Y, Suga Y, Ishida-Yamamoto A, Akiyama M
Exp Dermatol 2024 Apr;33(4):e15072. doi: 10.1111/exd.15072. PMID: 38576105
Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.
Shibata A, Akiyama M
Pediatr Int 2015 Aug;57(4):516-22. Epub 2015 Jul 14 doi: 10.1111/ped.12638. PMID: 25857373
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Recent clinical studies

Etiology

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu RH, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, Loring E, Craiglow BG, Milstone LM, Lifton RP, Boyden LM, Choate KA
JAMA Dermatol 2022 Jan 1;158(1):16-25. doi: 10.1001/jamadermatol.2021.4242. PMID: 34851365Free PMC Article
Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Topical tacrolimus for atopic dermatitis.
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
Ichthyosis in the newborn.
Craiglow BG
Semin Perinatol 2013 Feb;37(1):26-31. doi: 10.1053/j.semperi.2012.11.001. PMID: 23419760Free PMC Article
Care of the newborn with ichthyosis.
Dyer JA, Spraker M, Williams M
Dermatol Ther 2013 Jan-Feb;26(1):1-15. doi: 10.1111/j.1529-8019.2012.01555.x. PMID: 23384016

Diagnosis

Prenatal diagnosis of ichthyosis congenita gravis (Harlequin ichthyosis [HI]) using 3D sonography.
Merz E, Pashaj S
Ultraschall Med 2023 Dec;44(6):576-579. Epub 2023 Dec 4 doi: 10.1055/a-2180-6906. PMID: 38048780
Lamellar Ichthyosis.
Wu YC, Yao Q
JAMA Dermatol 2023 Feb 1;159(2):210. doi: 10.1001/jamadermatol.2022.5112. PMID: 36576743
Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Care of the newborn with ichthyosis.
Dyer JA, Spraker M, Williams M
Dermatol Ther 2013 Jan-Feb;26(1):1-15. doi: 10.1111/j.1529-8019.2012.01555.x. PMID: 23384016
Harlequin ichthyosis.
Akhdari N, Ouladsiad M, Aboussad A, Amal S
Skinmed 2010 Nov-Dec;8(6):371-2. PMID: 21413658

Therapy

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.
Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS
Arch Dermatol Res 2023 Mar;315(2):305-315. Epub 2022 Feb 26 doi: 10.1007/s00403-022-02325-3. PMID: 35218370Free PMC Article
Acitretin Use in Dermatology.
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
Topical tacrolimus for atopic dermatitis.
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
Acitretin-related ossification.
Rood MJ, Lavrijsen SP, Huizinga TW
J Rheumatol 2007 Apr;34(4):837-8. PMID: 17407234
Lamellar ichthyosis.
Christie RW
N Engl J Med 1972 Jul 20;287(3):150. doi: 10.1056/NEJM197207202870317. PMID: 5032279

Prognosis

Birth incidence and outcome of harlequin ichthyosis and collodion membrane in the UK and Ireland: a national 2-year prospective surveillance study.
Moss C, Roked F, Davis PJ, Khan M, Tyler C, Ibbs S, Ewer AK
Br J Dermatol 2023 Jan 23;188(1):139-140. doi: 10.1093/bjd/ljac015. PMID: 36689518
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu RH, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, Loring E, Craiglow BG, Milstone LM, Lifton RP, Boyden LM, Choate KA
JAMA Dermatol 2022 Jan 1;158(1):16-25. doi: 10.1001/jamadermatol.2021.4242. PMID: 34851365Free PMC Article
Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.
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
Topical tacrolimus for atopic dermatitis.
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
Harlequin ichthyosis.
Akhdari N, Ouladsiad M, Aboussad A, Amal S
Skinmed 2010 Nov-Dec;8(6):371-2. PMID: 21413658

Clinical prediction guides

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.
Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS
Arch Dermatol Res 2023 Mar;315(2):305-315. Epub 2022 Feb 26 doi: 10.1007/s00403-022-02325-3. PMID: 35218370Free PMC Article
Successful correction of ichthyosis-related ectropion by autografts.
Karadağ R, Sevimli N, Karadağ AS, Wollina U
Dermatol Ther 2020 Nov;33(6):e13851. Epub 2020 Jul 9 doi: 10.1111/dth.13851. PMID: 32543709
Topical tacrolimus for atopic dermatitis.
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
Dermatophytosis and Sjögren-Larsson syndrome: foe or friend?
Shirato K, Marshman G
Australas J Dermatol 2011 Aug;52(3):231-2. Epub 2011 Mar 1 doi: 10.1111/j.1440-0960.2011.00729.x. PMID: 21834825
Effect of topical calcipotriol on congenital ichthyoses.
Lucker GP, van de Kerkhof PC, van Dïjk MR, Steijlen PM
Br J Dermatol 1994 Oct;131(4):546-50. doi: 10.1111/j.1365-2133.1994.tb08558.x. PMID: 7947208

Recent systematic reviews

Topical tacrolimus for atopic dermatitis.
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
A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris.
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

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