A Neonate With Thickened, Parchment-Like Skin With Flexural Fissuring

A boy was born to a 26-year-old, gravida 2, para 1 mother at 36 weeks’ gestation after an uncomplicated pregnancy. Cesarean delivery was performed because of fetal distress. The newborn’s Apgar score was 5 at 1 minute and 7 at 5 minutes. Birth weight was 2.4 kg, and length was 48.5 cm.

At birth, the skin was noted to be parchment-like, shiny, and thickened, with fissuring in body folds and underlying erythema. The neonate’s face showed eversion of the lips, and eyebrows and eyelashes were absent. The infant had a weak cry and was not able to properly close his mouth. Vital signs and the rest of the examination findings were normal.

There was no history of consanguinity among the neonate’s parents, and no family history of a similar skin disorder.

What’s your diagnosis?

(Answer and discussion on next page)

Answer: Collodion baby

Collodion baby refers to a newborn infant who is encased in a translucent, taut, parchment-like membrane (the so-called collodion membrane).

Collodion baby is not a disease entity but rather a phenotype that is common to several disorders, most of which are inherited in an autosomal recessive manner, including congenital ichthyosiform erythroderma (CIE), lamellar ichthyosis, self-improving collodion ichthyosis, and self-healing collodion baby.¹ 

The term collodion baby was coined by Hallopeau and Watelet in 1892,² named for the resemblance to a dried film of collodion, which is a thick, brown solution of pyroxylin dissolved in ether and alcohol, used as a surgical dressing. When applied topically, the solvent evaporates, leaving a shiny film of nitrocellulose on the skin, simulating the glistening, taut skin of a collodion baby at birth.³

EPIDEMIOLOGY

The condition occurs in 1 in 50,000 to 1 in 100,000 births.^4,5 There is a slight male predominance.⁵ The condition is more common in premature infants.⁴ Cases of collodion baby have been reported in twins.^4,5 Consanguinity of parents has been noted frequently.⁴

ETIOPATHOGENESIS

Collodion baby usually is a manifestation of CIE and lamellar ichthyosis.³ Approximately 10% to 20% of cases develop a very mild phenotype of dry or even normal skin, referred to as self-improving collodion ichthyosis and self-healing collodion baby, respectively.^5,6 These clinical forms often result from mutations in one of the following genes: TGM1, ABCA12, ALOXE3, ALOX12B, NIPAL4, and PNPLA1.^3,6 TGM1 is by far the most commonly involved gene and encodes transglutaminase 1.

Occasionally, collodion baby may be a manifestation of Sjögren-Larsson syndrome, Tay syndrome, Conradi-Hünermann syndrome, Netherton syndrome, Neu-Laxova syndrome, neutral lipid storage disease, and type 2 Gaucher disease.^1,7

HISTOPATHOLOGY

Routine histology staining of the collodion membrane will show diffuse orthohyperkeratosis in most cases of collodion baby and thus is not helpful in distinguishing among the various types of ichthyoses.⁵

Skin biopsy after the membrane has shed may show disease-specific findings. Parakeratosis and inflammatory cell infiltration are seen more frequently in CIE than in lamellar ichthyosis.⁷ On the other hand, the stratum corneum usually is thicker in lamellar ichthyosis than in CIE.⁷

CLINICAL MANIFESTATIONS

At birth, affected infants are covered with a thick, taut, yellowish membrane resembling collodion or oiled parchment. The tight skin around the eyes and mouth often leads to ectropion (eversion of the lower eyelids) and eclabium (eversion of the lips), respectively.¹

These infants may have absent eyebrows and eyelashes, sparse hair, and flattening of the ears and nose. Sausage-shaped swellings of the digits are common.⁸ Depending on the thickness and tautness of the membrane, movements of body parts may be restricted. Occasionally, the collodion membrane is incomplete or confined to only certain parts of the body, such as the extremities.^6,8

The collodion membrane begins to dry after birth and usually cracks within 48 hours of life. The membrane often sheds over the course of 2 to 4 weeks. At that time, the underlying phenotype may be revealed.

DIAGNOSIS

The diagnosis is mainly clinical. However, it usually is not possible to establish the correct diagnostic category at birth, and histology of the collodion membrane is unhelpful. Skin biopsy, if necessary, should be performed after the collodion membrane has shed. Only observation over the following few weeks and sometimes months, with reevaluations of the phenotype, will allow the correct diagnosis to be made. Referral to a pediatric dermatologist should be considered.

DIFFERENTIAL DIAGNOSIS

Collodion baby should be differentiated from harlequin ichthyosis (harlequin baby). Harlequin ichthyosis is caused by functional null mutations in ABCA12 gene and is characterized by grotesque appearance; thick, adherent, and diamond-shaped armor-like scales; deep cracks and fissures; contractures of digits; restricted movements; severe ectropion; fish-mouth-like eclabium; and flattened nose and ears.⁹ Chrysalis babies are cases with intermediate features.

COMPLICATIONS

Because of the high level of transepidermal water loss, affected infants are at risk for hypernatremic dehydration and hypothermia. On the other hand, hyperpyrexia may occur if the ambient temperature is too high. 

The defective barrier function and fissuring can provide a portal of entry for microorganisms, which may result in cutaneous infections and sepsis. 

Collodion babies also are at risk for aspiration pneumonia from amniotic debris. Difficulty sucking or feeding may lead to caloric malnutrition.¹ Infants with ectropion are at risk for recurrent conjunctivitis and exposure keratitis.¹ 

Depending on the thickness of the membrane and the extent of involvement, movement of the limbs may be restricted. Rarely, constricting bands of membrane around digits may lead to impaired blood perfusion.⁸

PROGNOSIS

The prognosis depends on the underlying etiology. The mortality rate decreased from 33% in 1976 to 11% in 1984, 9% in 2002, and 5% in 2012, thanks to improved facilities in the intensive care nursery.^5,10

We are under the impression that the mortality rate has been further reduced in recent years with the development of neonatal intensive care.

MANAGEMENT

The neonate should be admitted to an intensive care unit and placed in a heated, humidified incubator to maintain body temperature and prevent dehydration. Vital signs should be monitored.

Accurate calculation of the child’s intake and output is essential. A high fluid intake is necessary because of increased transepidermal fluid loss and the use of a heated, humidified incubator. Clinical acumen should dictate the need for intravenous rehydration. Nasogastric feeding may be necessary in cases of feeding difficulty.

Hand washing before and after handling the infant and measures to limit exposure to infections should be emphasized. The prophylactic use of antibiotics is not recommended.

Topical bland emollients such as petrolatum should be applied regularly to the skin. Medicated emollients should be avoided because of the risk of percutaneous absorption and systemic toxicity.⁵

Infants with ectropion require frequent application of artificial tears or ocular lubricant. An ophthalmology and dermatology consultation would be in order.

Alexander K. C. Leung, MD, is a clinical professor of pediatrics at the University of Calgary and a pediatric consultant at the Alberta Children’s Hospital in Calgary.

Benjamin Barankin, MD, is medical director and founder of the Toronto Dermatology Centre.

References

1. Craiglow BG. Ichthyosis in the newborn. Semin Perinatol. 2013;37(1):26-31.

2. Hallopeau H, Watelet R. Sur une forme atténuée de la maladie dite ichtyose fœtale. Ann Dermatol Syphiligr (Paris). 1892(3):149-152.

3. Dyer JA, Spraker M, Williams M. Care of the newborn with ichthyosis. Dermatol Ther. 2013;26(1):1-15.

4. Akcakus M, Gunes T, Kurtoglu S, Ozturk A. Collodion baby associated with asymmetric crying facies: a case report. Pediatr Dermatol. 2003;20(2):
134-136.

5. Prado R, Ellis LZ, Gamble R, Funk T, Arbuckle HA, Bruckner AL. Collodion baby: an update with a focus on practical management. J Am Acad Dermatol. 2012;67(6):1362-1374.

6. Mazereeuw-Hautier J, Aufenvenne K, Deraison C, et al. Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. Br J Dermatol. 2009;161(2):456-463.

7. Aradhya SS, Srinivas SM, Hiremagalore R, Shanmukappa AG. Clinical outcome of collodion baby: a retrospective review [letter]. Indian J Dermatol Venereol Leprol. 2013;79(4):553.

8. O’Toole EA, Kelsell DP. Collodion baby. In: Irvine AD, Hoeger PH, Yan AC, eds. Harper’s Textbook of Pediatric Dermatology. Vol 1. 3rd ed. Oxford, England: Wiley-Blackwell; 2011:chap 12.

9. Sharma S, Mahajan VK. Collodion baby. Indian Dermatol Online J. 2011; 2(2):133.

10. Van Gysel D, Lijnen RLP, Moekti SS, de Laat PCJ, Oranje AP. Collodion baby: a follow-up study of 17 cases. J Eur Acad Dermatol Venereol. 2002;16(5):472-475.