By Gary M. White, MD
Courtesy O. Dale Collins, MD
The term collodion baby refers to the finding at birth of a tight, shiny, parchment-like membrane. Patients tend to evolve into various icthyoses or disorders of cornification.
Other reported associations include epidermolytic ichthyosis, hypohidrotic ectodermal dysplasia, ichthyosis vulgaris, Netherton syndrome, Sjögren-Larsson syndrome, koraxitrachitic syndrome, Conradi–Hunermann syndrome, trichothiodystrophy, neutral lipid storage disease, keratitis-ichthyosis-deafness syndrome, holocarboxylase synthetase syndrome, Gaucher disease, congenital hypothyroidism, and palmoplantar keratosis with leukokeratosis anogenitalis.
At birth, the baby is wrapped in a parchment-like membrane. Typical associated findings include ectropion, eclabium, flattening of the ears and nostrils, restricted extension of the digits and extremities, and limitation of chest movement. The parchment-like changes usually remit during the first month of life.
Hypothyroidism is common. Growth hormone levels are commonly high and IGF-1 and IGFBP-3 levels are low at birth as a sign of GH resistance [PD 2017;34;290].
A multidisciplinary approach carried out in a neonatal intensive care unit is in order. There can be issues with sucking, respiration due to restriction of chest expansion by skin, infections and aspiration pneumonia. There may be transcutaneous fluid and electrolyte loss, dehydration, temperature instability and high metabolic requirements. Diffuse application of Aquaphor to help maintain epidermal barrier function is often helpful. Setting the baby's incubator initially at 40-60% humidity is usually recommended, but with flexibility to allow for early breast feeding and parental bonding [JAMADerm 2015;151;1031]. Oral acitretin has been used. The membrane usually detaches in 3-4 weeks revealing a specific ichthyosis phenotype.
Genetic testing and counseling is indicated.
Collodion baby due to homozygous missense mutation in ALOX12B from BJD 2015;173;285.
Homepage | FAQs | Use of Images | Contact Dr. White