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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

Definition

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). [from MedlinePlus Genetics]

Professional guidelines

PubMed

Spingler T, Wiechers C, Hoopmann M, Kagan KO
Arch Gynecol Obstet 2024 Apr;309(4):1651-1653. Epub 2023 Jul 25 doi: 10.1007/s00404-023-07164-9. PMID: 37491629Free PMC Article
Merz E, Pashaj S
Ultraschall Med 2023 Dec;44(6):576-579. Epub 2023 Dec 4 doi: 10.1055/a-2180-6906. PMID: 38048780
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

Recent clinical studies

Etiology

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
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
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
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

Diagnosis

Wu YC, Yao Q
JAMA Dermatol 2023 Feb 1;159(2):210. doi: 10.1001/jamadermatol.2022.5112. PMID: 36576743
Alsabbagh MM
Pediatr Dermatol 2023 Jan;40(1):19-27. Epub 2022 Nov 29 doi: 10.1111/pde.15201. PMID: 36444857
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
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Perlstein MA, Perlstein MO
Pediatr Clin North Am 1967 Nov;14(4):933-48. doi: 10.1016/s0031-3955(16)32065-x. PMID: 4970013

Therapy

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
Teng JMC, Bunick CG, Guenthner S, Murrell DF, Marathe K, Kempers S, Eads K, Mendelsohn AM, Raiz J, Tavakkol A, Castelo-Soccio L
J Am Acad Dermatol 2022 Dec;87(6):1455-1458. Epub 2022 Jul 21 doi: 10.1016/j.jaad.2022.07.028. PMID: 35872261
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

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
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
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
Adam JE
Can Med Assoc J 1968 Oct 5;99(13):660-6. PMID: 4235005Free PMC Article

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
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
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
Rymen D, Jaeken J
J Inherit Metab Dis 2014 Sep;37(5):699-708. Epub 2014 Feb 20 doi: 10.1007/s10545-014-9678-7. PMID: 24554337

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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