Collodion baby (CB) is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, and trichothiodystrophy. We report a CB that was brought to our department and later diagnosed to have TGM1 gene c.984+1G>A mutation. However, it could not be ascertained whether the infant had lamellar ichthyosis or congenital ichthyosiform erythroderma (both having the same mutation). The infant was lost to follow-up.
CITATION STYLE
Sharma, D., Gupta, B., Shastri, S., Pandita, A., & Pawar, S. (2015). Collodion baby with TGM/ gene mutation. International Medical Case Reports Journal, 8, 205–208. https://doi.org/10.2147/imcrj.s91517
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