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Acral self-healing collodion baby

Disease definition

A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.

ORPHA:281127

Classification level : Disorder
  • Synonym(s):
    • Acral SHCB
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q80.2
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Only 2 cases were described in the literature.

Clinical description

In both cases, the babies healed soon after birth.

Etiology

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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