title: Homocysteine metabolism in children and adolescents with epidermolysis bullosa.
abstract: Epidermolysis bullosa (EB) belongs to a family of rare heterogeneous, genetic disorders characterized by blistering of the skin and mucous membranes in response to minor mechanical trauma. The involvement of the oral mucosa and oesophagus stenosis is suggested to be responsible for severe nutritional deficiencies, but few studies have till now considered this aspect. This observational study aimed to evaluate homocysteine status in children and adolescents with EB by assessing total plasma homocysteine (tHcy) and metabolically related vitamins (B6, B12, folate) concentrations.
  
  
  
  Twenty EB patients (12 M; age range 0.5-19 years) were evaluated for: plasma tHcy, serum B12and holotranscobalamin (HoloTC, the active fraction of B12), serum and erythrocyte folate (s-F and Ery-F, respectively), plasma B6and serum high sensitive C-reactive-protein (hsCRP) levels. Clinical severity was also evaluated through the Birmingham Epidermolysis Bullosa Severity (BEBS) score. A sex and age well-matched population was also enrolled.
  
  
  
  EB patients showed tHcy levels higher (p = 0.04) and B6levels lower (p = 0.03) than controls. B12, HoloTC, s-F and ery-F concentrations did not differ between patients and controls. Multiple linear regression analysis showed that tHcy levels were independent of the metabolically related vitamins levels. In addition, serum hsCRP levels were higher in EB patients than in controls (p = 0.003) and correlated negatively with B6concentrations (r = -0.6; p = 0.009). BEBS score correlated negatively with HoloTC (p = 0.022) and B6(p = 0.005) levels and positively with age (p = 0.031) and hsCRP levels (p < 0.001).
  
  
  
  The assessment of tHcy and metabolically related vitamin levels describes an important aspect of EB patients' nutritional status which can result essential for their long term care. Monitoring B6levels in EB patients could be particularly important in order to prevent several complications associated with B6deficiency and to avoid a B6excess which sustains an inflammatory condition.
authors: Institute of Human Nutrition and Dietetics, Department of Public Health, Experimental and Forensic Medicine, University of Pavia, Pavia, Italy. rachele.degiuseppe@unimi.it.
authors: Rachele
authors: R
authors: De Giuseppe
authors: Internal Medicine and Metabolic Diseases; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Greta
authors: G
authors: Venturelli
authors: Pediatric Highly Intensive Care Unit, University of Milan; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Sophie
authors: S
authors: Guez
authors: Pediatric Highly Intensive Care Unit, University of Milan; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Simona
authors: S
authors: Salera
authors: Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy.
authors: Claudia
authors: C
authors: De Vita
authors: Epidemiology Unit; Department of Preventive Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Dario
authors: D
authors: Consonni
authors: CNR Institute of Clinical Physiology, CardioThoracic and Vascular Department, Niguarda Ca' Granda Hospital, Milan, Italy.
authors: Cinzia
authors: C
authors: Dellanoce
authors: Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy.
authors: Fabrizia
authors: F
authors: Bamonti
authors: Pediatric Highly Intensive Care Unit, University of Milan; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Gabriella
authors: G
authors: Chiarelli
authors: Pediatric Highly Intensive Care Unit, University of Milan; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Francesca
authors: F
authors: Manzoni
authors: Laboratory of Clinical Chemistry and Microbiology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Rita
authors: R
authors: Maiavacca
authors: Pediatric Highly Intensive Care Unit, University of Milan; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Susanna
authors: S
authors: Esposito
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004820:Epidermolysis Bullosa / Q000097:blood / Q000150:complications*; D005260:Female; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D020138:Hyperhomocysteinemia / Q000097:blood / Q000175:diagnosis / Q000209:etiology*; D007223:Infant; D016014:Linear Models; D008297:Male; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D015415:Biomarkers; D006710:Homocysteine
keywords: Epidermolysis Bullosa; Holotranscobalamin; Homocysteine; Vitamin B6