Key words: Collodion membrane, autosomal recessive, icthyosis

Case Report

A 4-day-old baby boy presented with complaint of membrane over the whole body, which started breaking on the second day (Fig. 1). The baby was the third issue born by normal delivery at full term to a consanguineous couple. There was history of similar complaint in the second issue who died at the age of 10 days. The baby’s weight was 2.3 kg and head circumference was 33 cm. On examination, the whole body was covered with parchment-like membrane resembling collodion and was peeling off on the chest and abdomen. The associated findings included ectropion (Fig. 2), flattening of nose and ears (Fig. 3), clawlike hands and limitation of joint movements. There were no other congenital anomalies.

Hair and nails were normal. Sepsis screen turned out to be positive. Baby was treated in humidified environment with intravenous fluids and antibiotics. Emollient was applied to the whole body and systemic retinoids were given for two weeks. Baby recovered well and was discharged with advice for regular emollient application and follow-up (Fig. 4).

Discussion

Collodion baby is a rare congenital disorder resembling Harlequin fetus but milder in degree.1 Often it is a manifestation of congenital ichthyosiform erythroderma or lamellar icthyosis. Incidence of this condition is one in 3,00,000 live births.2 Affected babies are born in a collodion membrane, a shiny waxy tight inelastic outer layer to the skin, resembling an oiled parchment or dried collodion (sausage skin), which is subsequently shed within 10-14 days after birth and infrequently, has normal skin after the membrane is shed. This condition is an autosomal recessive genetic disorder.3 Ichthyosis lamellaris is associated with a deficiency of the enzyme keratinocyte transglutaminase. Genes involved include TGM1, ABCA12 and CYP4F22.4 There is presence of ectropion, flattening of ears and nose and fixation of lips in an O-shaped configuration. The hair may be absent or may perforate the horny covering. The collodion membrane is composed of greatly thickened stratum corneum that has been saturated with water. The presence of collodion membrane does not necessarily predict that the baby will develop ichthyosis and spontaneous healing may occur. Skin biopsy of collodion membrane is usually not diagnostic. Most collodion babies do have a form of ichthyosis and majority of them develop features of lamellar ichthyosis, bullous ichthyosis, X-linked ichthyosis, Netherton’s syndrome or Gaucher’s disease.

Collodion baby represents a difficult treatment challenge. The complications include cutaneous infections, aspiration pneumonia, hypothermia or hypernatremic dehydration (from excess transcutaneous fluid loss as a result of increased skin permeability).2 Therefore, supportive care is most important to prevent mortality. Treatment initially consists of high fluid intake to avoid dehydration and transepidermal fluid loss and use of heated humidified incubator and emulsifying ointment and retinoids. Refresh tears are used to prevent the eyes from becoming dried out. There is no need to operate immediately for ectropion as it can be corrected by local application of clobetasol in older children.5 The ear canal should be cleaned very gently under an operating microscope. Life expectancy and difficulties that the collodion baby faces depend upon the particular underlying condition. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. There is also an increased risk  of skin infection and mechanical compression, leading to problems like limb ischemia. The affected child usually has deformed auricle- Pinna, narrow external auditory canal filled with keratin debris. There is no associated inner ear nerve hearing loss.

Newer therapies that have resulted in clinical improvement are topical N-acetylcysteine which has an antiproliferative effect,6 tazarotene topical 0.05%, a receptor selective retinoid7 and calcipotriol, a synthetic derivative of vitamin D. Gene therapy seems to be a novel therapeutic approach to lamellar icthyosis.⁸

References

1. Nancy BE, Lawrence MS. Congenital and hereditary disorders of the skin. In: Schaffers Diseases of Newborn. 6th edition, (Taeusch, Ballard, Avery [Eds.]), WB Saunders: USA 1991:973-84.
2. Shwayder T, Ott F. All about ichthyosis. Pediatr Clin North Am 1991;38(4):835-57.
3. Dermatology at the Millenium. Delwyn Dyall-Smith, Robin Marks, Informa Health Care 1999:586.
4. William D James, Timothy Berger, Dirk Elston. Andrews’ Diseases of the Skin: Clinical Dermatology. 10th edition, Saunders 2005.
5. Van Gysel D, Lijnen RL, Moekti SS, de Laat PC, Oranje AP. Collodion baby: a follow-up study of 17 cases. J Eur Acad Dermatol Venereol 2002;16(5):472-5.
6. Redondo P, Bauzá A. Topical N-acetylcysteine for lamellar icthyosis. Lancet 1999;354(9193):1880.
7. Stege H, Hofmann B, Ruzicka T, Lehmann P. Topical application of tazarotene in the treatment of nonerythrodermic and lamellar icthyosis. Arch Dermatol 1998;134(5):640.

8. Akiyama M, Shimizu H. An update on molecular aspects of non-syndromic icthyosis. Exp Dermatol 2008;17(5):373-82.