Clinical Challenge: Infant Born in Plastic Film-Like Membrane

Collodion baby is a term for infants born with a parchment-like membrane covering the entire surface of their skin. The collodion membrane is translucent, shiny, and taut and is essentially another layer of skin arising from abnormal desquamation of the epidermis in...

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Collodion baby is a term for infants born with a parchment-like membrane covering the entire surface of their skin. The collodion membrane is translucent, shiny, and taut and is essentially another layer of skin arising from abnormal desquamation of the epidermis in utero. This is a result, most commonly, of a mutation in the gene transglutaminase 1 (TGM1).

The enzyme encoded by TGM1 directs formation of the epidermal cornified cell envelope by facilitating protein cross-linkages. Compromise of the epidermal barrier leads to excessive trans-epidermal water loss, hypothermia, and increased infection.

Infants may fail to thrive with the caloric drain due to evaporation and loss of proteins to inflammation. Ectropion and eclabium may result from contraction by the inflexible membrane.

If sufficiently rigid, the membrane will cause compartment syndrome and ischemia of the limbs or digits, as well as hypoplasia of the nasal and auricular cartilage in utero. It is estimated that 1 in 50,000 to 1 in 100,000 neonates are affected. 

The course of the collodion baby is variable. Spontaneous fissuring and peeling of the membrane begins two weeks after birth with expansion of the chest wall.

In most cases shedding is complete by three to four weeks revealing erythematous skin beneath. In 10% of these infants, the collodion membrane is self-limited to presentation at birth and will not return, so called “self-improving collodion ichthyosis”.

For the majority of neonates, however, the congenital membrane heralds the presence of an underlying pathology, most commonly one of the autosomal recessive congenital ichthyoses (ARCI), due to a mutation in TGM1. These are lifelong skin disorders and include lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE).

After shedding of the collodion membrane, LI manifests as large, dark cutaneous plaques causing contractures and dehydration from dysfunction of the epidermal barrier. A milder disorder on the same spectrum, CIE, causes a fine, white scale with underlying inflammation and erythema.  

Ultimately, the long-term prognosis of infants born with a collodion membrane is difficult to assess at birth as the underlying disease may not immediately be known. After sloughing of the collodion membrane, routine skin biopsies will reveal features specific to the underlying disease.

ARCI show a histological pattern of orthohyperkeratosis with an enlarged granular cell layer and increased expression of the TGM1 on immunohistochemistry. Genetic testing for mutations in TGM1will further support a diagnosis of ARCI. 

The goal of treatment for collodion baby is minimizing complications associated with the compromised epidermal barrier. The primary complication is excessive water loss across the epidermis leading to hypernatremic dehydration and heat loss with subsequent hypothermia.

The infant should be hospitalized in a neonatal intensive care unit with a humidified incubator to decrease water losses, and body weight should be monitored daily as an indicator of intake/output and fluid balance.

Serum electrolytes should be checked frequently for signs of dehydration. Transfer to crib may happen when the infant no longer has derangements of volume and temperature and is eating and growing appropriately. If the infant fails to thrive or is obstructed from eating by eclabium, IVF or enteral nutrition may be necessary.

These infants are at an increased risk for infection, especially with staphylococcal and Candida species. To avoid infections, petroleum jelly or a water-in-oil emollient should be liberally applied to hydrate and maintain the integrity of the skin barrier.

If ectropion persists, a dexpanthenol-based gel should be applied to the exposed areas of the eye with regular ophthalmology appointments to prevent conjunctivitis and keratitis. When cutaneous infections occur, they should be cultured and treated with appropriate antibiotics. Prophylactic antibiotics, however, should not be used.

If the congenital membrane does not desquamate spontaneously or the infant has an underlying ichthyosis, an oral retinoid may be administered. Given the prevalence of side effects with systemic steroid therapy, these should be used only in refractory cases with an immediate taper once clinical improvement is observed.

Of note, keratolytics such as salicylic acid and urea creams should be avoided, as the impaired skin barrier prdisposes to systemic absorption.

Lucette Liddell, BS, is a medical student at Baylor College of Medicine.

Adam Rees, MD,a graduate of the David Geffen School of Medicine at UCLA, practices dermatology in Los Angeles.

References

1. Fitzpatrick TB et al. “Collodion Baby.” Color Atlas and Synopsis of Clinical Dermatology. 7^th ed. New York: McGraw-Hill, 2013. Print.
2. Harding, C R et al. “The cornified cell envelope: an important marker of stratum corneum maturation in healthy and dry skin.” International Journal of Cosmetic Science. 25.4 (2003): 157-67.Pubmed. Web. 12 May 2014.
3. Vinzenz O et al. “Ichthyosis: clinical manifestations and practical treatment options.” American Journal of Clinical Dermatology 10.6 (2009): 351-64. Pubmed. Web. 12 May 2014.
4. Prado R et al. “Collodion baby: An update with a focus on practical management.” Journal of the American Academy of Dermatology 67.6 (2012): 1362-374. Print
5. .”TGM1.” National Library of Medicine (US). Genetics Home Reference [reviewed 2010 Aug; cited 2014 May 12]. Retrieved from http://ghr.nlm.nih.gov/gene/TGM1.