Details of Disease

General Information of Disease (ID: DIS1EEFN)

Disease Name Self-healing collodion baby
Synonyms self-improving collodion baby; SICI; SHCB; self-improving congenital ichthyosis
Definition
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.
Disease Hierarchy
DISVMSR6: Autosomal recessive congenital ichthyosis
DIS1EEFN: Self-healing collodion baby
Disease Identifiers
MONDO ID
MONDO_0017267
MESH ID
C565473
UMLS CUI
C1855789
MedGen ID
383772
Orphanet ID
281122
SNOMED CT ID
718632004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ALOX12B TTQ4QQH Strong GermlineCausalMutation [1]
TGM1 TT7A949 Strong Genetic Variation [2]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ALOX12B DEISPU8 Supportive Autosomal recessive [1]
TGM1 DEFJOAG Supportive Autosomal recessive [3]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALOX12B OTQ0BYK6 Supportive Autosomal recessive [1]
ALOXE3 OT76J52A Supportive Autosomal recessive [1]
TGM1 OTB8URRI Supportive Autosomal recessive [3]
CYP4F22 OTMNPZQL Strong Genetic Variation [2]
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References

1 Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. J Invest Dermatol. 2010 Feb;130(2):438-43. doi: 10.1038/jid.2009.346. Epub 2009 Nov 5.
2 Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.Pediatr Dermatol. 2016 Mar-Apr;33(2):e48-51. doi: 10.1111/pde.12740. Epub 2015 Dec 9.
3 Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol. 2003 Feb;120(2):224-8. doi: 10.1046/j.1523-1747.2003.12032.x.