A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa.
<h4>Background</h4>Delayed puberty is a possible complication of Epidermolysis Bullosa (EB), though the actual incidence is still unknown. In chronic illnesses delayed puberty should be correctly managed since, if untreated, can have detrimental effects on adult height attainment, peak b...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2022-01-01
|
| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0274072 |
| _version_ | 1798001375857082368 |
|---|---|
| author | Giulia Rodari Sophie Guez Simona Salera Fabio Massimo Ulivieri Gianluca Tadini Michela Brena Eriselda Profka Federico Giacchetti Maura Arosio Claudia Giavoli |
| author_facet | Giulia Rodari Sophie Guez Simona Salera Fabio Massimo Ulivieri Gianluca Tadini Michela Brena Eriselda Profka Federico Giacchetti Maura Arosio Claudia Giavoli |
| author_sort | Giulia Rodari |
| collection | DOAJ |
| description | <h4>Background</h4>Delayed puberty is a possible complication of Epidermolysis Bullosa (EB), though the actual incidence is still unknown. In chronic illnesses delayed puberty should be correctly managed since, if untreated, can have detrimental effects on adult height attainment, peak bone mass achievement and psychological health.<h4>Aims and methods</h4>This is a single-centre study on pubertal development, growth and bone status in EB. Auxological, densitometric (areal Bone Mineral Density-aBMD Z-score, Bone Mineral Apparent Density-BMAD Z-score, Trabecular Bone Score-TBS and Bone Strain Index-BSI at Lumbar spine) and body composition data (Total Body DXA scans) were collected. Disease severity was defined according to Birmingham Epidermolysis Bullosa Severity (BEBS) score.<h4>Results</h4>Twenty-one patients (12 Recessive Dystrophic EB-RDEB, 3 Dominant Dystrophic EB, 3 Junctional EB-JEB, 2 EB Simplex and one Kindler EB) aged 13 years (females) or 14 years (males) and above were enrolled (age 16.2±2.5 years, M/F 11/10). Short stature was highly prevalent (57%, mean height -2.12±2.05 SDS) with 55% patients with height <-2SD their mid-parental height. 7/21 patients (33%, 6 RDEB and 1 JEB) had delayed puberty with a median BEBS of 50 (range 29 to 63), a height SDS of -2.59 SDS (range -5.95 to -2.22) and a median lumbar BMAD Z-score of -4.0 SDS (range -5.42 to -0.63 SDS). Pubertal status was negatively associated with BEBS, skin involvement, inflammatory state and positively with height SDS and BMI SDS.<h4>Conclusions</h4>Pubertal delay is highly prevalent in EB, especially in patients with RDEB and JEB, high severity score and inflammatory state. Moreover, pubertal delay worsens growth impairment and bone health. A study on pubertal induction is ongoing to enlighten possible beneficial effects on adult height attainment and peak bone mass accrual. |
| first_indexed | 2024-04-11T11:35:13Z |
| format | Article |
| id | doaj.art-e88fb0e3def24b5ab7ea846665a63791 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-11T11:35:13Z |
| publishDate | 2022-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-e88fb0e3def24b5ab7ea846665a637912022-12-22T04:26:00ZengPublic Library of Science (PLoS)PLoS ONE1932-62032022-01-01179e027407210.1371/journal.pone.0274072A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa.Giulia RodariSophie GuezSimona SaleraFabio Massimo UlivieriGianluca TadiniMichela BrenaEriselda ProfkaFederico GiacchettiMaura ArosioClaudia Giavoli<h4>Background</h4>Delayed puberty is a possible complication of Epidermolysis Bullosa (EB), though the actual incidence is still unknown. In chronic illnesses delayed puberty should be correctly managed since, if untreated, can have detrimental effects on adult height attainment, peak bone mass achievement and psychological health.<h4>Aims and methods</h4>This is a single-centre study on pubertal development, growth and bone status in EB. Auxological, densitometric (areal Bone Mineral Density-aBMD Z-score, Bone Mineral Apparent Density-BMAD Z-score, Trabecular Bone Score-TBS and Bone Strain Index-BSI at Lumbar spine) and body composition data (Total Body DXA scans) were collected. Disease severity was defined according to Birmingham Epidermolysis Bullosa Severity (BEBS) score.<h4>Results</h4>Twenty-one patients (12 Recessive Dystrophic EB-RDEB, 3 Dominant Dystrophic EB, 3 Junctional EB-JEB, 2 EB Simplex and one Kindler EB) aged 13 years (females) or 14 years (males) and above were enrolled (age 16.2±2.5 years, M/F 11/10). Short stature was highly prevalent (57%, mean height -2.12±2.05 SDS) with 55% patients with height <-2SD their mid-parental height. 7/21 patients (33%, 6 RDEB and 1 JEB) had delayed puberty with a median BEBS of 50 (range 29 to 63), a height SDS of -2.59 SDS (range -5.95 to -2.22) and a median lumbar BMAD Z-score of -4.0 SDS (range -5.42 to -0.63 SDS). Pubertal status was negatively associated with BEBS, skin involvement, inflammatory state and positively with height SDS and BMI SDS.<h4>Conclusions</h4>Pubertal delay is highly prevalent in EB, especially in patients with RDEB and JEB, high severity score and inflammatory state. Moreover, pubertal delay worsens growth impairment and bone health. A study on pubertal induction is ongoing to enlighten possible beneficial effects on adult height attainment and peak bone mass accrual.https://doi.org/10.1371/journal.pone.0274072 |
| spellingShingle | Giulia Rodari Sophie Guez Simona Salera Fabio Massimo Ulivieri Gianluca Tadini Michela Brena Eriselda Profka Federico Giacchetti Maura Arosio Claudia Giavoli A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa. PLoS ONE |
| title | A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa. |
| title_full | A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa. |
| title_fullStr | A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa. |
| title_full_unstemmed | A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa. |
| title_short | A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa. |
| title_sort | single centre study on predictors and determinants of pubertal delay and growth impairment in epidermolysis bullosa |
| url | https://doi.org/10.1371/journal.pone.0274072 |
| work_keys_str_mv | AT giuliarodari asinglecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT sophieguez asinglecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT simonasalera asinglecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT fabiomassimoulivieri asinglecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT gianlucatadini asinglecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT michelabrena asinglecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT eriseldaprofka asinglecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT federicogiacchetti asinglecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT mauraarosio asinglecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT claudiagiavoli asinglecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT giuliarodari singlecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT sophieguez singlecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT simonasalera singlecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT fabiomassimoulivieri singlecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT gianlucatadini singlecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT michelabrena singlecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT eriseldaprofka singlecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT federicogiacchetti singlecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT mauraarosio singlecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa AT claudiagiavoli singlecentrestudyonpredictorsanddeterminantsofpubertaldelayandgrowthimpairmentinepidermolysisbullosa |