Baby is born at 35 weeks gestation with a thickened, shiny, tight membrane covering the entire body.
What is your diagnosis?
Collodion baby, also known as ichthyosis congenita, self-healing collodion baby, lamellar exfoliation of the newborn, and desquamation of the newborn.
A collodion baby is not a distinct disorder. Rather, it is common presentation of several congenital ichthyosis, mostly being predominantly autosomal recessive.
Pathogenesis: The formation of the collodion membrane is poorly understood, but histopathologically, it demonstrates a thickened, orthokeratotic stratum corneum. Because the collodion is a congenital presentation of many ichthyoses, usually approximately two weeks after delivery, the underlying condition can be observed.
Clinical features: The baby is born with a tight, shiny membrane that often can cause an ectropion, eclabium, and hypoplasia of the ear and nose cartilage. Also the tightness can interfere and decrease the sucking response and pulmonary ventilation. Some of the bands can dry into tight rings causing distal edema. Normally, the membrane will dry and crack and peel off within two weeks. When it dries and cracks, it can leave areas of denuded skin and cracks and fissures which are associated with an increased of electrolyte imbalances and water loss, thermal instability, infections, pneumonia, and sepsis. Most commonly in the case of the self-healing collodion baby, in one to two weeks after delivery, the membrane is peeled off and the child has normal skin or mild generalized ichthyosis. In other common presentations, the baby can develop lamellar ichthyosis or congenital ichthyosiform erythroderma. There are other rarer presentations that can present after the collodion membrane resolves which can be seen in the referenced articles.
Harlequin fetus is very striking and much more severe, and the distinction is not difficult.
Treatment: Treatment would include monitoring temperature, fluids and electrolytes; placing the baby in a humidified incubator; using sterile saline and sterile gauze wet compresses; and applying mild emollients and lubricants such as Aquaphor and Vanicream. The membrane should not be mechanically removed or peeled. It should fall off naturally and no keratolytic agents should be employed.
With lamellar ichthyosis, this is known to be a defect in the transglutaminase 1 gene, which under the proper experience can be determined using a cutaneous biopsy and special stains for patients with transglutaminase 1 deficiency, although this test is not widely available.
As I mentioned, the most common scenario is a baby with close to normal skin or very mild generalized ichthyosis, as in the case of this child who was seen both at birth and here in a followup photograph at 2 years of age.
Andrew’s Diseases of the Slin, 11th edition