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Acral self-healing collodion baby
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.
ORPHA:281127Classification level: Disorder
- Acral SHCB
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Infancy, Neonatal
- ICD-10: Q80.2
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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.
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