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Congenital lethal erythroderma

MedGen UID:
384008
•Concept ID:
C1856898
•
Congenital Abnormality
Synonym: Congenital exfoliative erythroderma resistant to treatment
SNOMED CT: Congenital lethal erythroderma (722391005)
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)
 
Monarch Initiative: MONDO:0009198
OMIM®: 227090
Orphanet: ORPHA1954

Definition

A rare skin disorder characterized by erythrodermic peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. [from SNOMEDCT_US]

Clinical features

From HPO
Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
See: Feature record | Search on this feature
Congenital exfoliative erythroderma
MedGen UID:
870446
•Concept ID:
C4024892
•
Disease or Syndrome
See: Feature record | Search on this feature
Hypoalbuminemia
MedGen UID:
68694
•Concept ID:
C0239981
•
Finding
Reduction in the concentration of albumin in the blood.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital lethal erythroderma
Follow this link to review classifications for Congenital lethal erythroderma in Orphanet.

Recent clinical studies

Etiology

Arabidopsis 3β-Hydroxysteroid Dehydrogenases/C4-Decarboxylases Are Essential for the Pollen and Embryonic Development.
Pan J, Li W, Chen B, Liu L, Zhang J, Li J
Int J Mol Sci 2023 Oct 25;24(21) doi: 10.3390/ijms242115565. PMID: 37958553Free PMC Article
Ichthyosis in the Neonatal Setting.
Ivich JM
Adv Neonatal Care 2015 Aug;15(4):253-60. doi: 10.1097/ANC.0000000000000106. PMID: 25046443
CHILD syndrome avant la lettre.
Bittar M, Happle R
J Am Acad Dermatol 2004 Feb;50(2 Suppl):S34-7. doi: 10.1016/s0190-9622(03)01827-9. PMID: 14726863
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
The CHILD nevus: a distinct skin disorder.
Happle R, Mittag H, Küster W
Dermatology 1995;191(3):210-6. doi: 10.1159/000246548. PMID: 8534939

Diagnosis

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.
Zhuang J, Luo Q, Xie M, Chen Y, Jiang Y, Zeng S, Wang Y, Xie Y, Chen C
Mol Genet Genomic Med 2023 Mar;11(3):e2121. Epub 2022 Dec 11 doi: 10.1002/mgg3.2121. PMID: 36504312Free PMC Article
A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
Tan EC, Chia SY, Rafi'ee K, Lee SX, Kwek ABE, Tan SH, Ng VWL, Wei H, Koo S, Koh AL, Koh MJ
Mol Genet Genomic Med 2022 Jan;10(1):e1848. Epub 2021 Dec 26 doi: 10.1002/mgg3.1848. PMID: 34957706Free PMC Article
Cholesterol metabolism deficiency.
Jira P
Handb Clin Neurol 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. PMID: 23622407
CHILD syndrome avant la lettre.
Bittar M, Happle R
J Am Acad Dermatol 2004 Feb;50(2 Suppl):S34-7. doi: 10.1016/s0190-9622(03)01827-9. PMID: 14726863
The CHILD nevus: a distinct skin disorder.
Happle R, Mittag H, Küster W
Dermatology 1995;191(3):210-6. doi: 10.1159/000246548. PMID: 8534939

Prognosis

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.
Zhuang J, Luo Q, Xie M, Chen Y, Jiang Y, Zeng S, Wang Y, Xie Y, Chen C
Mol Genet Genomic Med 2023 Mar;11(3):e2121. Epub 2022 Dec 11 doi: 10.1002/mgg3.2121. PMID: 36504312Free PMC Article
Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.
Covaciu C, Castori M, De Luca N, Ghirri P, Nannipieri A, Ragone G, Zambruno G, Castiglia D
Br J Dermatol 2010 Jun;162(6):1384-7. Epub 2010 Mar 10 doi: 10.1111/j.1365-2133.2010.09665.x. PMID: 20302579
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.
Jonard L, Feldmann D, Parsy C, Freitag S, Sinico M, Koval C, Grati M, Couderc R, Denoyelle F, Bodemer C, Marlin S, Hadj-Rabia S
Eur J Med Genet 2008 Jan-Feb;51(1):35-43. Epub 2007 Oct 4 doi: 10.1016/j.ejmg.2007.09.005. PMID: 18024254
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

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.
Zhuang J, Luo Q, Xie M, Chen Y, Jiang Y, Zeng S, Wang Y, Xie Y, Chen C
Mol Genet Genomic Med 2023 Mar;11(3):e2121. Epub 2022 Dec 11 doi: 10.1002/mgg3.2121. PMID: 36504312Free PMC Article
Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome.
Hewett DR, Simons AL, Mangan NE, Jolin HE, Green SM, Fallon PG, McKenzie AN
Hum Mol Genet 2005 Jan 15;14(2):335-46. Epub 2004 Dec 8 doi: 10.1093/hmg/ddi030. PMID: 15590704
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
The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
Happle R, Koch H, Lenz W
Eur J Pediatr 1980 Jun;134(1):27-33. doi: 10.1007/BF00442399. PMID: 7408908
X-linked dominant chondrodysplasia punctata. Review of literature and report of a case.
Happle R
Hum Genet 1979;53(1):65-73. doi: 10.1007/BF00289453. PMID: 535904

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