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Published on: May 28, 2021
Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure,
David G Moskowitz1, Ashley J Fowler, Melvin B Heyman
1Department of Dermatolog, University of California San Francisco, and the Department of Veterans Affairs Medical Center, San Francisco, 94143, USA.
Insights
Children with ichthyosis experience significant transepidermal water loss (TEWL), leading to substantial caloric deficits. This barrier dysfunction contributes to impaired growth by increasing energy expenditure and heat loss.
Area of Science:
- Dermatology
- Pediatrics
- Human Physiology
Background:
- Ichthyosis is characterized by impaired epidermal permeability barrier function.
- This barrier defect can lead to excessive transepidermal water loss (TEWL).
Purpose of the Study:
- To investigate the impact of epidermal barrier failure on caloric requirements in children with ichthyosis and growth failure.
- To quantify the contribution of barrier dysfunction to energy expenditure and nutrient loss.
Main Methods:
- Evaluated transepidermal water loss (TEWL) and barrier ultrastructure in 10 hospitalized children with ichthyosis.
- Measured nutritional intake, resting energy expenditure, and evaporative heat loss.
Main Results:
- Patients exhibited markedly elevated mean basal TEWL rates compared to normal.
- Increased TEWL resulted in significant daily caloric loss through heat of evaporation.
- Resting energy expenditure exceeded predictions in most patients and correlated with TEWL severity.
Conclusions:
- Defective epidermal permeability barrier in ichthyosis leads to chronic water and calorie losses.
- These losses can significantly impair growth in affected children.
Objective:
Because an impaired epidermal permeability barrier is present in many of the ichthyoses, we examined the contribution of barrier failure to caloric requirements in children with ichthyosis and growth failure.
Study Design:
Transepidermal water loss (TEWL) and ultrastructural parameters of the permeability barrier were evaluated in 10 hospitalized children with ichthyosis and growth failure. Nutritional intake, resting energy expenditure, and calories lost as heat of evaporation were determined.
Results:
Mean basal TEWL rates were markedly elevated in all study patients in comparison to the expected upper limit of normal (39.6+/-20.6 vs 8.7 mL/m(2) per hour). The severity of abnormalities in the ultrastructure of permeability barrier-related structures, assessed semiquantitatively, correlated significantly to mean basal TEWL rates (P <.001). Total body daily TEWL was elevated (746 +/- 468 vs 209 mL/d), resulting in a caloric drain of 433 +/- 272 kcal/d (21 +/- 9.8 kcal/kg per day) through heat of evaporation. Nutrient intake exceeded requirements in all, but resting energy expenditure exceeded predicted in 5 of 6 patients and correlated significantly with mean basal TEWL rates (P <.005).
Conclusions:
A defective permeability barrier in children with ichthyosis can result in ample chronic losses of water and calories to impair growth.
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