Bullous Disorders of Childhood

Paller, Amy S.; Mancini, Anthony J.

doi:10.1016/b978-0-323-24475-6.00013-3

Cited by 14 publications

(41 citation statements)

References 254 publications

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“…Although skin blistering develops in early infancy, it may not appear until early adulthood and is usually confi ned to the hands and feet. Lesions often heal without scarring and no obvious extracutaneous involvement [1,2], which might be misdiagnosed by primary physician or pediatrician. Furthermore, the natural history of mild symptoms and tendency to blister gradually disappear in adolescence [1], which might be underestimated or neglectable in referring to tertiary care centers.…”

Section: Discussionmentioning

confidence: 99%

“…Lesions often heal without scarring and no obvious extracutaneous involvement [1,2], which might be misdiagnosed by primary physician or pediatrician. Furthermore, the natural history of mild symptoms and tendency to blister gradually disappear in adolescence [1], which might be underestimated or neglectable in referring to tertiary care centers. Conversely, more DEB patients tend to be referred to tertiary hospitals than localized EBS patients due to greater severity with functional incapacity from extensive scarring [13,14,24].…”

Section: Discussionmentioning

confidence: 99%

“…Epidermolysis bullosa (EB) is a prototype of genetic disorders with skin fragility [1][2][3] defi ned by skin blistering due to minimal mechanical trauma with disruption at the dermo-epidermal junctions, some of which are associated with signifi cant morbidity and mortality. This disease occurs worldwide.…”

Section: Introductionmentioning

confidence: 99%

“…EB is clinically and genetically heterogeneous, including a broad spectrum of severity with diversifi ed subtypes. In severe cases, bullae and erosions can occur on any mucosal membrane and even be accompanied by extracutaneous involvement [1,2,[9][10][11][12]. Complications and causes of death from EB, such as sepsis, pneumonia, respiratory failure, cardiomyopathy, undernutrition, failure to thrive (FTT), anemia, and squamous cell carcinoma (SCC) [1,9,[13][14][15][16][17][18][19], have been elucidated extensively in the literature.…”

Section: Introductionmentioning

confidence: 99%

“…Diagnostic criteria for classifi cation of patients to each major type based on clinical signs[1,2,9]. each subtype using the descriptive method with STATA statistical software (Version 14.0).…”

mentioning

confidence: 99%

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Clinical features and outcomes of epidermolysis bullosa in thai children: A 20-Year review from a Tertiary Care Center

Ekamon¹,

Nootchanard²,

Chonnakarn³

et al. 2022

Arch Community Med Public Health

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Background: Epidermolysis Bullosa (EB) is a heterogeneous genetic disorder with skin fragility. Only a few cases have been reported in Thailand. This study aims to determine the clinical characteristics, complications, and outcomes of EB stratified by subtype. Methods: A retrospective single-center study of EB patients at the Dermatology Unit, Queen Sirikit National Institute of Child Health, was reviewed from January 1, 2002, to December 31, 2021. Diagnosis is based on clinical manifestations and some skin biopsies. Results: There were 38 enrolled patients, age range from 0 to 25 years with a male-to-female ratio of 1.1:1. Family history of EB and consanguineous marriage were found in 6 cases and 2 cases, respectively. The most common type of EB was dystrophic EB (DEB) (26 cases) (68.4%), including recessive DEB in 15 cases (39.5%) and dominant DEB in 11 cases (28.9%). Other types were EB simplex in 10 cases (26.3%) and junctional EB in 2 cases (5.3%). Common complications were cutaneous bacterial infection (39.5%), anemia (31.6%), failure to thrive (18.4%), and protein energy malnutrition (15.8%). Musculoskeletal (21.1%), gastrointestinal (13.2%), and eye complications (7.9%) were exclusively found in DEB. Nineteen patients (50%) received regular follow-ups with a median duration of 9 months (range = 0.5 to 248 months). The mortality rate was 31.6% (6/19). Five cases died from bacterial sepsis, while one case died from metastatic squamous cell carcinoma. Conclusion: DEB is the most common type of EB in Thai children, and bacterial sepsis is the predominant cause of death. Further multicenter and molecular genetic studies are recommended for a definite diagnosis.

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Section: Discussionmentioning

confidence: 99%