Epidermolysis Bullosa in children: the central role of the pediatrician
Abstract Epidermolysis bullosa (EB) is a severe hereditary disease characterized by defective epithelial adhesion causing mucocutaneous fragility. The major types are EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and more than 35 EB subtypes. Another very rare type of EB is Kindler EB (...
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| Format: | Article |
| Language: | English |
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BMC
2022-04-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-021-02144-1 |
| _version_ | 1811272499500941312 |
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| author | Maria Rosaria Marchili Giulia Spina Marco Roversi Cristina Mascolo Elisabetta Pentimalli Marialuisa Corbeddu Andrea Diociaiuti Maya El Hachem Alberto Villani |
| author_facet | Maria Rosaria Marchili Giulia Spina Marco Roversi Cristina Mascolo Elisabetta Pentimalli Marialuisa Corbeddu Andrea Diociaiuti Maya El Hachem Alberto Villani |
| author_sort | Maria Rosaria Marchili |
| collection | DOAJ |
| description | Abstract Epidermolysis bullosa (EB) is a severe hereditary disease characterized by defective epithelial adhesion causing mucocutaneous fragility. The major types are EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and more than 35 EB subtypes. Another very rare type of EB is Kindler EB (KEB). Clinically, it is a very heterogeneous disease which ranges from localized to extensive skin lesions with frequent multisystem extra cutaneous involvement. The role of a pediatrician-dermatologist cooperation within a multidisciplinary team is fundamental for both the diagnosis and management contributing to these patients’ better life expectancy. Aim of this study is to describe clinical and laboratory characteristics of the main EB subtypes focusing on nutritional and gastrointestinal aspects, providing information to aid the paediatric management of children with EB. This retrospective study reviewed the cases of 160 pediatric EB patients (76 male and 84 female): 31 patients affected by EBS (mean age ± SD: 4.37 ± 7.14), 21 patients affected by JEB (mean age ± SD: 9.26± 17.30) and 108 with DEB (mean age ± SD: 11.61 ± 13.48). All patients were admitted at the Bambino Gesù Children’s Hospital in Rome, between June 2005 to June 2020. The reduced gastrointestinal absorption, chronic losses, esophageal stenosis and chronic inflammatory state, represent the basis of nutritional problems of EB patients. In particular, anemia represents one of the most important complications of DEB patients which could require transfusion-dependent patterns. Malnutrition, vitamin deficiencies and anemia have been related to growth delay in EB patients. A specific diet with a balance of all macronutrients is required and improving caloric intake with sugar limitations is fundamental to prevent dental caries and tooth decay typical of EB patients. While sepsis proved to be the major cause of morbidity and mortality in younger patients, squamous cell carcinoma was mostly observed in older patients, especially those affected by DEB. Patients with EB require regular monitoring for complications and sequelae with a frequency of evaluations which varies based on age and EB subtypes. Cooperation among medical teams involving paediatricians, dermatologists, specialist clinicians including nutritionists such as families and patient’s association is fundamental to approach the disease and improve the quality of life of these patients. |
| first_indexed | 2024-04-12T22:41:25Z |
| format | Article |
| id | doaj.art-66f91f78eedb458a8a0ff286c8ac853c |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-12T22:41:25Z |
| publishDate | 2022-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-66f91f78eedb458a8a0ff286c8ac853c2022-12-22T03:13:43ZengBMCOrphanet Journal of Rare Diseases1750-11722022-04-0117111210.1186/s13023-021-02144-1Epidermolysis Bullosa in children: the central role of the pediatricianMaria Rosaria Marchili0Giulia Spina1Marco Roversi2Cristina Mascolo3Elisabetta Pentimalli4Marialuisa Corbeddu5Andrea Diociaiuti6Maya El Hachem7Alberto Villani8Department of Emergency, Acceptance and General Pediatrics, Bambino Gesù Children’s Hospital, IRCCSDepartment of Emergency, Acceptance and General Pediatrics, Bambino Gesù Children’s Hospital, IRCCSDepartment of Emergency, Acceptance and General Pediatrics, Bambino Gesù Children’s Hospital, IRCCSDepartment of Emergency, Acceptance and General Pediatrics, Bambino Gesù Children’s Hospital, IRCCSPostgraduate School of Paediatrics, University of TorinoDermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, Istituti di Ricovero e Cura a carattere ScientificoDermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, Istituti di Ricovero e Cura a carattere ScientificoDermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, Istituti di Ricovero e Cura a carattere ScientificoDepartment of Emergency, Acceptance and General Pediatrics, Bambino Gesù Children’s Hospital, IRCCSAbstract Epidermolysis bullosa (EB) is a severe hereditary disease characterized by defective epithelial adhesion causing mucocutaneous fragility. The major types are EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and more than 35 EB subtypes. Another very rare type of EB is Kindler EB (KEB). Clinically, it is a very heterogeneous disease which ranges from localized to extensive skin lesions with frequent multisystem extra cutaneous involvement. The role of a pediatrician-dermatologist cooperation within a multidisciplinary team is fundamental for both the diagnosis and management contributing to these patients’ better life expectancy. Aim of this study is to describe clinical and laboratory characteristics of the main EB subtypes focusing on nutritional and gastrointestinal aspects, providing information to aid the paediatric management of children with EB. This retrospective study reviewed the cases of 160 pediatric EB patients (76 male and 84 female): 31 patients affected by EBS (mean age ± SD: 4.37 ± 7.14), 21 patients affected by JEB (mean age ± SD: 9.26± 17.30) and 108 with DEB (mean age ± SD: 11.61 ± 13.48). All patients were admitted at the Bambino Gesù Children’s Hospital in Rome, between June 2005 to June 2020. The reduced gastrointestinal absorption, chronic losses, esophageal stenosis and chronic inflammatory state, represent the basis of nutritional problems of EB patients. In particular, anemia represents one of the most important complications of DEB patients which could require transfusion-dependent patterns. Malnutrition, vitamin deficiencies and anemia have been related to growth delay in EB patients. A specific diet with a balance of all macronutrients is required and improving caloric intake with sugar limitations is fundamental to prevent dental caries and tooth decay typical of EB patients. While sepsis proved to be the major cause of morbidity and mortality in younger patients, squamous cell carcinoma was mostly observed in older patients, especially those affected by DEB. Patients with EB require regular monitoring for complications and sequelae with a frequency of evaluations which varies based on age and EB subtypes. Cooperation among medical teams involving paediatricians, dermatologists, specialist clinicians including nutritionists such as families and patient’s association is fundamental to approach the disease and improve the quality of life of these patients.https://doi.org/10.1186/s13023-021-02144-1Epidermolysis bullosaComplicationsMultidisciplinary approachNutritional impairmentPediatric primary healthcare |
| spellingShingle | Maria Rosaria Marchili Giulia Spina Marco Roversi Cristina Mascolo Elisabetta Pentimalli Marialuisa Corbeddu Andrea Diociaiuti Maya El Hachem Alberto Villani Epidermolysis Bullosa in children: the central role of the pediatrician Orphanet Journal of Rare Diseases Epidermolysis bullosa Complications Multidisciplinary approach Nutritional impairment Pediatric primary healthcare |
| title | Epidermolysis Bullosa in children: the central role of the pediatrician |
| title_full | Epidermolysis Bullosa in children: the central role of the pediatrician |
| title_fullStr | Epidermolysis Bullosa in children: the central role of the pediatrician |
| title_full_unstemmed | Epidermolysis Bullosa in children: the central role of the pediatrician |
| title_short | Epidermolysis Bullosa in children: the central role of the pediatrician |
| title_sort | epidermolysis bullosa in children the central role of the pediatrician |
| topic | Epidermolysis bullosa Complications Multidisciplinary approach Nutritional impairment Pediatric primary healthcare |
| url | https://doi.org/10.1186/s13023-021-02144-1 |
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