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.
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.
Authors: Anna C Thomas; Daniel Tattersall; Elizabeth E Norgett; Edel A O'Toole; David P Kelsell Journal: Am J Pathol Date: 2009-01-29 Impact factor: 4.307
Authors: David P Kelsell; Elizabeth E Norgett; Harriet Unsworth; Muy-Teck Teh; Thomas Cullup; Charles A Mein; Patricia J Dopping-Hepenstal; Beverly A Dale; Gianluca Tadini; Philip Fleckman; Karen G Stephens; Virginia P Sybert; Susan B Mallory; Bernard V North; David R Witt; Eli Sprecher; Aileen E M Taylor; Andrew Ilchyshyn; Cameron T Kennedy; Helen Goodyear; Celia Moss; David Paige; John I Harper; Bryan D Young; Irene M Leigh; Robin A J Eady; Edel A O'Toole Journal: Am J Hum Genet Date: 2005-03-08 Impact factor: 11.025
Authors: Jeroen van Smeden; Michelle Janssens; Walter A Boiten; Vincent van Drongelen; Laetitia Furio; Rob J Vreeken; Alain Hovnanian; Joke A Bouwstra Journal: J Invest Dermatol Date: 2013-11-29 Impact factor: 8.551
Authors: Yan J Jiang; Yoshikazu Uchida; Biao Lu; Peggy Kim; Cungui Mao; Masashi Akiyama; Peter M Elias; Walter M Holleran; Carl Grunfeld; Kenneth R Feingold Journal: J Biol Chem Date: 2009-05-08 Impact factor: 5.157