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Acral self-healing collodion baby

Orpha number ORPHA281127
Synonym(s) Acral SHCB
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Neonatal/infancy
ICD-10
  • Q80.2
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.

Only 2 cases were described in the literature.

In both cases, the babies healed soon after birth.

In one case, molecular analysis was performed that revealed mutations in the TGM1 gene encoding transglutaminase 1, an enzyme involved in the cornification of the stratum corneum.

Expert reviewer(s)

  • Pr Juliette MAZEREEUW-HAUTIER
Last update: January 2012

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Detailed information
Practical genetics
  • EN (2013,pdf)
Clinical genetics review
  • EN (2012)
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