title: Collodion Baby with TGM1 gene mutation.
abstract: 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.
authors.affiliation: Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, India.
authors.forename: Deepak
authors.initials: D
authors.lastname: Sharma
authors.affiliation: Department of Pediatrics, Civil Hospital, Palwal, Haryana, India.
authors.forename: Basudev
authors.initials: B
authors.lastname: Gupta
authors.affiliation: Department of Pathology, NKP Salve Medical College, Nagpur, Maharashtra, India.
authors.forename: Sweta
authors.initials: S
authors.lastname: Shastri
authors.affiliation: Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, India.
authors.forename: Aakash
authors.initials: A
authors.lastname: Pandita
authors.affiliation: Department of Obstetrics and Gynaecology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, India.
authors.forename: Smita
authors.initials: S
authors.lastname: Pawar
keywords: TGM1 gene; c.984+1G>A mutation; cellophane membrane; lamellar ichthyosis; nonbullous congenital ichthyosiform erythroderma; parchment membrane