title: Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa.
abstract: Bone status impairment represents a complication of generalized forms of epidermolysis bullosa (EB); however, the prevalence and the main determinants of this event in localized forms remain poorly defined. Birmingham epidermolysis bullosa severity (BEBS) score and 25-hydroxyvitamin D levels are strongly associated with low bone mass, suggesting that vitamin D may play a potential beneficial role in bone health. Further longitudinal studies are needed in order to confirm this hypothesis.
  
  
  
  Bone status impairment represents a complication of generalized forms of EB; thus, we aimed to estimate the prevalence of low bone mass, to examine mineralization differences in various EB subtypes and to identify the most important determinants of bone impairment in children with either generalized or localized EB.
  
  
  
  An observational study of 20 children (11 males; mean age ± standard deviation, 11.7 ± 3.9 years) with EB was performed. Clinical history, physical examination, laboratory studies, X-ray of the left hand and wrist for bone age, and dual energy X-ray absorptiometry scans of the lumbar spine were obtained. Areal bone mineral density (aBMD Z-scores) and bone mineral apparent density were related to the BEBS score.
  
  
  
  Areal BMD Z-score (mean -1.82 ± 2.33, range, -7.6-1.7) was reduced (<-2 SD) in 8 patients (40%), whereas aBMD Z-score adjusted for bone age was low in 7 patients (35%). BEBS score and 25-hydroxyvitamin D serum levels were the most important elements associated with aBMD (P = 0.0001 and P = 0.016, respectively). A significant correlation between the aBMD Z-score and area of skin damage, insulin-like growth factor-1, C-reactive protein, and sodium serum levels was also found.
  
  
  
  Low aBMD can be considered a systemic complication of EB, primarily associated with BEBS score and 25-hydroxyvitamin D levels. Therefore, longitudinal evaluation of bone status is ongoing in these patients to define whether vitamin D supplementation would prevent, or at least reduce, bone status impairment.
authors.affiliation: Endocrinology and Metabolic Diseases Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Rodari
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Guez
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Manzoni
authors.affiliation: Department of Radiology, IRCCS Policlinico San Donato, University of Milan, San Donato Milanese, Milan, Italy.
authors.forename: K K
authors.initials: KK
authors.lastname: Chalouhi
authors.affiliation: Endocrinology and Metabolic Diseases Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Profka
authors.affiliation: Endocrinology and Metabolic Diseases Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Bergamaschi
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Salera
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Tadini
authors.affiliation: Bone Metabolic Unit, Division of Nuclear Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: F M
authors.initials: FM
authors.lastname: Ulivieri
authors.affiliation: Endocrinology and Metabolic Diseases Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Spada
authors.affiliation: Endocrinology and Metabolic Diseases Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. claudia.giavoli@gmail.com.
authors.forename: C
authors.identifier: 0000-0002-6787-1543
authors.initials: C
authors.lastname: Giavoli
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Esposito
mesh_terms: D015502:Absorptiometry, Photon; D000293:Adolescent; D015519:Bone Density / Q000502:physiology; D002648:Child; D004820:Epidermolysis Bullosa / Q000097:blood / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D007103:Immobilization; D008159:Lumbar Vertebrae / Q000503:physiopathology; D008297:Male; D010024:Osteoporosis / Q000097:blood / Q000209:etiology* / Q000503:physiopathology; D012720:Severity of Illness Index; D012867:Skin / Q000473:pathology; D014807:Vitamin D / Q000031:analogs & derivatives* / Q000097:blood
chemical_list: D014807:Vitamin D; C104450:25-hydroxyvitamin D
keywords: BEBS score; Bone mineral density; Epidermolysis bullosa; Osteoporosis; Pediatrics; Vitamin D