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Collodion babies and endocrine disorders: Another concern


DII small banner By Warren R. Heymann, MD
June 23, 2017

Collodion baby
Collodion baby. Tight, shiny film or dried collodion reminiscent of the skin of a sausage covers the entire surface of this 2-day-old neonate whose mother was treated with infliximab throughout her pregnancy.
Credit: JAAD

Collodion baby (CB) describes an infant who is born with a cellophane-like, or parchment-like “membrane” resembling collodion. CB is not a specific diagnosis, but rather a phenotype seen in several forms of ichthyosis. At least 65% of CBs have a variant of ARCI (Autosomal Recessive Congenital Ichthyosis) and a minority of infants (approximately 5%) shed their collodion membranes, revealing apparently normal skin (the so-called self-healing collodion baby). Other CBs shed their membranes and show syndromic forms of ichthyosis (Conradi–Hünermann–Happle syndrome, trichothiodystrophy, or RXLI). CBs are often born prematurely. Because of the membrane’s tautness, facial and extremity distortion may be observed, with features such as ectropion, eclabium, and digital constriction. Other complications include an inability to suck properly, respiratory difficulty because of restriction of chest expansion by the thick membrane, cutaneous and systemic infection, and aspiration pneumonia. The membrane itself is a poor barrier, leading to excessive transcutaneous fluid and electrolyte loss, hypernatremic dehydration, increased metabolic requirements, and thermoregulatory lability. (1)

For syndromic forms of CBs, genetic analysis is constantly revealing new mutations. For example, the genotypic spectrum of so-called “bathing suit ichthyosis,” a variant of ARCI which is characterized by a CB and restriction of scale to sites of relatively higher temperature (such as the trunk), has been expanded to include several new mutations of TGM1. (2)
 
We now also must consider the possibility of endocrinologic problems in collodion babies.

Ozdemir et al evaluated clinically identified newborn CBs (group 1) compared to a control group matched in terms of gestational age and birth weight (group 2) for endocrinologic abnormalities. Blood specimens were collected from both groups for thyroid function tests, measurement of serum growth hormone (GH), insulin-like growth factor 1 (IGF-1) and IGF binding protein-3 (IGFBP-3) levels. Group 1 consisted of 42 CBs (25 male, 17 female) with gestational ages of 32 to 42 weeks and birth weights of 1,400 to 4,000 g. Twelve were assessed as premature and 17 as SGA (small for gestational age). Serum IGF-1 and IGFBP-3 levels were lower and serum GH levels higher than in controls. Primary hypothyroidism was diagnosed in 10 patients in the study group, subclinical hypothyroidism in 2, and central hypothyroidism in 1. A statistically significant difference was determined between the groups in terms of primary hypothyroidism (p = 0.01). Serum GH levels were weakly negatively correlated with birth weight and serum IGF-1 and IGFBP-3 levels. The authors concluded that premature birth and SGA are common in CBs. GH levels are high and IGF-1 and IGFBP-3 levels low at birth as a sign of GH resistance in these patients. The greater prevalence of hypothyroidism in these children is also significant. (3) This confirms the group’s earlier study of 23 CBs having lower serum IGF-I and IGFBP-3 levels but higher serum GH levels than controls. (4)
 
The mechanism(s) associating congenital hypothyroidism is unclear, although it may be related to coinheritance since the TGM1 and TSHR genes both map to chromosome 14q. Genes associated with congenital hypothyroidism are in close proximity to those involved with icthyosis and thyroid dyshormonogenesis, which is typically autosomal recessive, and may be expected in consanguineous families. Regarding SGA babies, the low IGF-1 and IGFBP levels, and high GH levels likely reflect inadequate intrauterine nutrition. (3)

CBs should be managed by promptly placing the baby in a humidified incubator, where the temperature-controlled, humidified environment greatly reduces transepidermal water loss. Clinical management also relies on daily bathing with water (with or without a mild cleanser) and frequent liberal applications of bland emollients such as petrolatum. Monitoring for hypernatremic dehydration, hypothermia, and infection is essential. These recent studies suggest that monitoring for potential hypothyroidism should also be added to the list.

1. Paller A, Mancini A. Hereditary Disorders of Cornification. Hurwitz Clinical Pediatric Dermatology, 5th Edition, Elsevier, 2015, pp. 95-103.
2. Marukian NV, et al. Expanding the genotypic spectrum of bathing suit ichthyosis. JAMA Dermatol 2017; 153: 537-43.
3. Ozdemir A, et al. Neonatal endocrinologic problems in collodion babies. Pediar Dermatol 2017; 343: 290-
4. Kutoglu S, et al. Serum insulin-like growth factor-1 (IGF-1), IGF-binding protein-3, and growth hormone levels in collodion babies: A case-control study. J Pediatr Endocrinol Metab 2008; 21: 689-94.
5. Nguyen MA, et al. Practical events in the management of a collodion baby. JAMA Dermato 2015; 151: 1031-2.

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