دورية أكاديمية
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.
| العنوان: | Neonatal epidermolysis bullosa: lessons to learn about genetic counseling. |
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| المؤلفون: | Chong SC; Department of Paediatrics, The Chinese University of Hong Kong, Shatin, Hong kong.; The Chinese University of Hong Kong - Baylor College of Medicine Joint Center for Medical Genetics, Shatin, Hong Kong., Hon KL; Department of Paediatrics, The Chinese University of Hong Kong, Shatin, Hong kong., Yuen LYP; Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, Hong Kong., Choi PCL; Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Shatin, Hong Kong., Ng WGG; Department of Paediatrics, The Chinese University of Hong Kong, Shatin, Hong kong., Chiu TW; The Chinese University of Hong Kong - Baylor College of Medicine Joint Center for Medical Genetics, Shatin, Hong Kong.; Division of Plastic Reconstructive and Aesthetic Surgery, The Chinese University of Hong Kong, Shatin, Hong Kong. |
| المصدر: | The Journal of dermatological treatment [J Dermatolog Treat] 2021 Feb; Vol. 32 (1), pp. 29-32. Date of Electronic Publication: 2020 Nov 02. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 8918133 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-1753 (Electronic) Linking ISSN: 09546634 NLM ISO Abbreviation: J Dermatolog Treat Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Informa Healthcare Original Publication: Houndmills, Basingstoke, Hampshire, UK : M. Dunitz and Macmillan Press, [c1989]- |
| مواضيع طبية MeSH: | Genetic Counseling*, Collagen Type VII/*genetics , Epidermolysis Bullosa Dystrophica/*pathology, Epidermolysis Bullosa Dystrophica/genetics ; Epidermolysis Bullosa, Junctional/genetics ; Epidermolysis Bullosa, Junctional/pathology ; Female ; Homozygote ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Sequence Deletion ; Young Adult |
| مستخلص: | Background: Epidermolysis Bullosa (EB) is a heterogeneous group of congenital blistering diseases that usually presents in the neonatal period. EB is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB). Methods: We describe genetics of neonatal EB in Hong Kong. Results: Two neonates of consanguineous Pakistani parents had the EB-Pyloric Atresia (EB-PA) variant. One had a 4 kb homozygous deletion of exon 19-25 of the ITGB4 gene, and the other with only a histopathological diagnosis. Both died of sepsis in infancy. Aberrant COL7A1 mutations in the dominant and recessive EB were described. Genetic analysis, together with histopathological classification is important to aid prognosis and counseling. JEB and EB-PA are associated with consanguinity and mortality during infancy. Morbidity and prognosis of the autosomal dominant DEB are optimistic. The autosomal recessive DEB is more severe, with neonatal onset and recurrent blistering. It is also associated with chronicity and malignant changes when the child reaches adulthood. Conclusion: Exact genetic diagnosis aids in counseling of the family concerning the prognosis in the affected child and the risk of affected children in future pregnancies. |
| فهرسة مساهمة: | Keywords: Epidermolysis bullosa dystrophica; junctional; mortality; simplex |
| المشرفين على المادة: | 0 (COL7A1 protein, human) 0 (Collagen Type VII) |
| SCR Disease Name: | Epidermolysis bullosa dystrophica, Pasini type |
| تواريخ الأحداث: | Date Created: 20181004 Date Completed: 20201229 Latest Revision: 20201229 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1080/09546634.2018.1527999 |
| PMID: | 30280950 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher | تدمد: | 1471-1753 |
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| DOI: | 10.1080/09546634.2018.1527999 |