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Self-improving collodion baby

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Disease definition

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.

ORPHA:281122

Classification level: Disorder

Synonym(s):
  • SHCB
  • SICI
  • Self-healing collodion baby
  • Self-improving congenital ichthyosis

Prevalence: <1 / 1 000 000

Inheritance: Autosomal recessive

Age of onset: Neonatal

ICD-10: Q80.2

ICD-11: EC20.02

OMIM: 242100 242300 606545

UMLS: C1855789

MeSH: C565473

Summary
Epidemiology

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

Clinical description

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.

Etiology

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.

Last update: January 2012 - Expert reviewer(s): Pr Juliette MAZEREEUW-HAUTIER
A summary on this disease is available in Français (2012) Español (2012) Deutsch (2012) Italiano (2012) Português (2012) Nederlands (2012) Polski (2012.pdf)
Detailed information
General public
Article for general public
Svenska (2017) - Socialstyrelsen
Disease review articles
Clinical genetics review
English (2013.pdf) - Eur J Hum Genet
English (2023) - GeneReviews
Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLIDTM

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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