Prevalence of and risk factors for nutritional deficiency and food allergy in a cohort of 21 patients with Netherton syndrome.
Netherton syndrome
allergy
epidermal barrier
genodermatoses
nutrition
Journal
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
ISSN: 1399-3038
Titre abrégé: Pediatr Allergy Immunol
Pays: England
ID NLM: 9106718
Informations de publication
Date de publication:
01 2023
01 2023
Historique:
revised:
16
12
2022
received:
19
07
2022
accepted:
31
12
2022
entrez:
27
1
2023
pubmed:
28
1
2023
medline:
31
1
2023
Statut:
ppublish
Résumé
Netherton syndrome (NS; OMIM: 256500) is a rare autosomal recessively inherited disease due to SPINK5 mutations. Hair and inflammatory skin involvement are variable along with allergies. Morbidity and mortality are high, particularly in infancy. A detailed clinical analysis of a NS patient cohort should broaden the understanding of nutritional challenges and allergic comorbidities. In this retrospective monocentric cohort study, medical and dietetic records of pediatric NS patients, presenting between 1999 and 2018, were reviewed. The severity of skin involvement was assessed according to the extent of the body surface area (BSA) affected by erythema. We identified 21 patients with NS (median age 11.6 years). Within the first 6 months of life, requirements for fluid and kcals/protein were high for all patients (average 228 ml/kg/day) and infants had an average of 1.9 feed changes (range 0-4) due to food intolerance. Clinical evidence for IgE-mediated food allergy was present in 84.2% (16/19 children, 2 no data) with a range of 1-12 food allergies per patient. In 75%, more than one food had to be avoided. Specific IgE levels were falsely positive in 38.3% and 8/18 patients (44.4%). One-third (5/15; 6 no data) of patients, all with severe disease, had anaphylactic reactions following ingestion of fish (n = 2), sesame (n = 1), cow's milk (n = 1), and both peanut and egg (n = 1). Our data emphasize feeding difficulties in children with NS and reveal an unexpectedly higher prevalence of food allergies that gives evidence to the importance of early coordinated multidisciplinary care for overcoming these challenges in NS.
Sections du résumé
BACKGROUND
Netherton syndrome (NS; OMIM: 256500) is a rare autosomal recessively inherited disease due to SPINK5 mutations. Hair and inflammatory skin involvement are variable along with allergies. Morbidity and mortality are high, particularly in infancy. A detailed clinical analysis of a NS patient cohort should broaden the understanding of nutritional challenges and allergic comorbidities.
METHODS
In this retrospective monocentric cohort study, medical and dietetic records of pediatric NS patients, presenting between 1999 and 2018, were reviewed. The severity of skin involvement was assessed according to the extent of the body surface area (BSA) affected by erythema.
RESULTS
We identified 21 patients with NS (median age 11.6 years). Within the first 6 months of life, requirements for fluid and kcals/protein were high for all patients (average 228 ml/kg/day) and infants had an average of 1.9 feed changes (range 0-4) due to food intolerance. Clinical evidence for IgE-mediated food allergy was present in 84.2% (16/19 children, 2 no data) with a range of 1-12 food allergies per patient. In 75%, more than one food had to be avoided. Specific IgE levels were falsely positive in 38.3% and 8/18 patients (44.4%). One-third (5/15; 6 no data) of patients, all with severe disease, had anaphylactic reactions following ingestion of fish (n = 2), sesame (n = 1), cow's milk (n = 1), and both peanut and egg (n = 1).
CONCLUSIONS
Our data emphasize feeding difficulties in children with NS and reveal an unexpectedly higher prevalence of food allergies that gives evidence to the importance of early coordinated multidisciplinary care for overcoming these challenges in NS.
Substances chimiques
Allergens
0
Immunoglobulin E
37341-29-0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e13914Informations de copyright
© 2023 European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.
Références
Pruszkowski A, Bodemer C, Fraitag S, Teillac-Hamel D, Amoric JC, de Prost Y. Neonatal and infantile erythrodermas: a retrospective study of 51 patients. Arch Dermatol. 2000;136(7):875-880.
van Smeden J, Al-Khakany H, Wang Y, et al. Skin barrier lipid enzyme activity in Netherton patients is associated with protease activity and ceramide abnormalities. J Lipid Res. 2020;61(6):859-869.
Briot A, Deraison C, Lacroix M, et al. Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome. J Exp Med. 2009;206(5):1135-1147.
Furio L, Hovnanian A. Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy. Biol Chem. 2014;395(9):945-958.
Kato A, Fukai K, Oiso N, Hosomi N, Murakami T, Ishii M. Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population. Br J Dermatol. 2003;148(4):665-669.
Walley AJ, Chavanas S, Moffatt MF, et al. Gene polymorphism in Netherton and common atopic disease. Nat Genet. 2001;29(2):175-178.
Prodinger C, Yerlett N, MacDonald C, et al. Characteristics of children with Netherton syndrome: a review of 21 patients. J Eur Acad Dermatol Venereol. 2021;35(7):e466-e469.
Sharma RK, Parashar A. Special considerations in paediatric burn patients. Indian J Plast Surg. 2010;43(Suppl):S43-S50.
Bellon N, Hadj-Rabia S, Moulin F, et al. The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations. Br J Dermatol. 2020;184:532-537.
Paller AS, Renert-Yuval Y, Suprun M, et al. An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. J Allergy Clin Immunol. 2017;139(1):152-165.
Eränkö E, Ilander M, Tuomiranta M, et al. Immune cell phenotype and functional defects in Netherton syndrome. Orphanet J Rare Dis. 2018;13(1):213.
Czarnowicki T, He H, Leonard A, et al. The major orphan forms of ichthyosis are characterized by systemic T-cell activation and Th-17/Tc-17/Th-22/Tc-22 polarization in blood. J Invest Dermatol. 2018;138(10):2157-2167.
Paluel-Marmont C, Bellon N, Barbet P, et al. Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome. J Allergy Clin Immunol. 2017;139(6):2003-2005.e1.
Protudjer JL, Vetander M, Kull I, et al. Food-related symptoms and food allergy in Swedish children from early life to adolescence. PLoS One. 2016;11(11):e0166347.
DunnGalvin A, Dubois AE, Flokstra-de Blok BM, Hourihane JO. The effects of food allergy on quality of life. Chem Immunol Allergy. 2015;101:235-252.
Goodwin RD, Rodgin S, Goldman R, et al. Food allergy and anxiety and depression among ethnic minority children and their caregivers. J Pediatr. 2017;187:258-264.e1.
Rybak A, Pesce M, Thapar N, Borrelli O. Gastro-esophageal reflux in children. Int J Mol Sci. 2017;18(8):1671.
Yukselen A, Celtik C. Food allergy in children with refractory gastroesophageal reflux disease. Pediatr Int. 2016;58(4):254-258.
Nwaru BI, Hickstein L, Panesar SS, Roberts G, Muraro A, Sheikh A. Prevalence of common food allergies in Europe: a systematic review and meta-analysis. Allergy. 2014;69(8):992-1007.
Hovnanian A. Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res. 2013;351(2):289-300.
Kelleher MM, Dunn-Galvin A, Gray C, et al. Skin barrier impairment at birth predicts food allergy at 2 years of age. J Allergy Clin Immunol. 2016;137(4):1111-1116.e8.
Dubrac S, Schmuth M, Ebner S. Atopic dermatitis: the role of Langerhans cells in disease pathogenesis. Immunol Cell Biol. 2010;88(4):400-409.
Hofmann MA, Fluhr JW. Role of IL-17 in atopy-A systematic review. Clin Transl Allergy. 2021;11(6):e12047.
Żbikowska-Gotz M, Pałgan K, Gawrońska-Ukleja E, et al. Expression of IL-17A concentration and effector functions of peripheral blood neutrophils in food allergy hypersensitivity patients. Int J Immunopathol Pharmacol. 2016;29(1):90-98.
Dhuban KB, d'Hennezel E, Ben-Shoshan M, et al. Altered T helper 17 responses in children with food allergy. Int Arch Allergy Immunol. 2013;162(4):318-322.
Luchsinger I, Knöpfel N, Theiler M, et al. Secukinumab therapy for Netherton syndrome. JAMA Dermatol. 2020;156(8):907-911.
Barbieux C, des Claustres MB, De la Brassinne M, et al. Duality of Netherton syndrome manifestations and response to ixekizumab. J Am Acad Dermatol. 2021;84(5):1476-1480.
Angkasekwinai P. Th9 cells in allergic disease. Curr Allergy Asthma Rep. 2019;19(5):29.
Barbieux C, Bonnet des Claustres M, Fahrner M, et al. Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses. J Allergy Clin Immunol. 2021;149:1358-1372.
Hannula-Jouppi K, Laasanen SL, Heikkilä H, et al. IgE allergen component-based profiling and atopic manifestations in patients with Netherton syndrome. J Allergy Clin Immunol. 2014;134(4):985-988.
Du Toit G, Roberts G, Sayre PH, et al. Randomized trial of peanut consumption in infants at risk for peanut allergy. N Engl J Med. 2015;372(9):803-813.
Bellach J, Schwarz V, Ahrens B, et al. Randomized placebo-controlled trial of hen's egg consumption for primary prevention in infants. J Allergy Clin Immunol. 2017;139(5):1591-1599.e2.
Natsume O, Kabashima S, Nakazato J, et al. Two-step egg introduction for prevention of egg allergy in high-risk infants with eczema (PETIT): a randomised, double-blind, placebo-controlled trial. Lancet. 2017;389(10066):276-286.
Perkin MR, Logan K, Tseng A, et al. Randomized trial of introduction of allergenic foods in breast-fed infants. N Engl J Med. 2016;374(18):1733-1743.
Mathias JG, Zhang H, Soto-Ramirez N, Karmaus W. The association of infant feeding patterns with food allergy symptoms and food allergy in early childhood. Int Breastfeeding J. 2019;14(1):43.
Soto-Ramírez N, Kar S, Zhang H, Karmaus W. Infant feeding patterns and eczema in children in the first 6 years of life. Clin Exp Allergy. 2017;47(10):1285-1298.
Lawrence R. Storage of human milk and the influence of procedures on immunological components of human milk. Acta Paediatr. 1999;88:14-18.
Du Toit G, Santos A, Roberts G, Fox AT, Smith P, Lack G. The diagnosis of IgE-mediated food allergy in childhood. Pediatr Allergy Immunol. 2009;20(4):309-319.
Muraro A, Werfel T, Hoffmann-Sommergruber K, et al. EAACI food allergy and anaphylaxis guidelines: diagnosis and management of food allergy. Allergy. 2014;69(8):1008-1025.
D'Auria E, Fabiano V, Bertoli S, et al. Growth pattern, resting energy expenditure, and nutrient intake of children with food allergies. Nutrients. 2019;11(2):212.
Sampson HA. Utility of food-specific IgE concentrations in predicting symptomatic food allergy. J Allergy Clin Immunol. 2001;107(5):891-896.
Perry TT, Matsui EC, Kay Conover-Walker M, Wood RA. The relationship of allergen-specific IgE levels and oral food challenge outcome. J Allergy Clin Immunol. 2004;114(1):144-149.
Sicherer SH, Sampson HA. Food allergy: a review and update on epidemiology, pathogenesis, diagnosis, prevention, and management. J Allergy Clin Immunol. 2018;141(1):41-58.
Flores Kim J, McCleary N, Nwaru BI, Stoddart A, Sheikh A. Diagnostic accuracy, risk assessment, and cost-effectiveness of component-resolved diagnostics for food allergy: a systematic review. Allergy. 2018;73(8):1609-1621.
Giannetti A, Bernardini L, Cangemi J, Gallucci M, Masetti R, Ricci G. Role of vitamin D in prevention of food allergy in infants. Front Pediatr. 2020;8:447.