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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.
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2012, pdf)
- Practical genetics
- English (2013, pdf)
- Clinical genetics review
- English (2017)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.