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Self-healing collodion baby

ORPHA281122
Synonym(s) SHCB
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q80.2
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.

The exact prevalence is unknown. Approximately 25 cases have been reported in the literature.

Affected babies are born in a collodion membrane. They also display ectropion and eclabium and a limited joint mobility. After the shedding of the membrane, patients present with mild scaling.

SCHB is due to mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive.

Expert reviewer(s)

  • Pr Juliette MAZEREEUW-HAUTIER

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Detailed information

Summary information
Practical genetics
  • EN (2013,pdf)
Article for general public
  • EN (2013)
Clinical genetics review
  • EN (2014)
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