Case Report | DOI: https://doi.org/10.31579/2690-1897/028
1Plastic Surgeon BHUTH
2Pediatrician BHUTH
3Nurse in Pediatrics Unit BHUTH
*Corresponding Author: Gargadi SI,Plastic Surgeon BHUTH
Citation: Gargadi SI, Mava Y, Davou K., (2020) A Case of Epidermolysis Bullosa in Bhuth: A Case Report. Journal of Surgical Case Reports and Images, 3(4); Doi: 10.31579/2690-1897/028
Copyright: © 2020 Gargadi SI, This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Received: 27 August 2020 | Accepted: 01 August 2020 | Published: 08 September 2020
Keywords: Epidermolysis Bullosa (EB) in BHUTH.
Epidermolysis Bullosa (EB) is a group of inherited Bullous disorders characterized by formation of blistering following minor trauma (Nikolksy Sign), healing with scarring. It is caused by one or more mutations in at least one of 20 different genes that synthesize structural proteins that are involve in adherence of epidermal to dermis.
We observed and cared for a 2 day old female neonate with low birth weight, normal antenatal history who presented at birth with spontaneous bullous skin eruptions to parts of skin of the upper and lower limbs which ruptured with minor mechanical trauma. She had conservative care and even though there was lack of finances for genetic test to pinpoint the mutated gene the wounds healed with acceptable scar.
We are glad to share this rare condition with the scientific world.
The skin lines the outermost part of the body and forms 16% of the body weight with total surface area of 1.8m2. It is ectodermal in origin and has three layers: epidermis dermis and subcutis [1]. The dermis has 100 – 200 million papillae in adult skin which is fitted to the papillae of pockets of the epidermis [2]. A multiprotein complexes (hemidesmosomes) facilitates the stable adhesion of epithelial cells to the underlying basement membrane [3].
Epidermolysis Bullosa (EB) is a group of inherited diseases that is characterized by formation of blistering of the skin following minor trauma (Nikolksy sign) and healing with scarring. The incidence in the U.S is 1 in a million [3, 4]. EB is divided into four types: 1. Epidermolysis Bullosa simple x (weber – cockayne type of EB) – A localized type. It is a genetic disorder that is caused by a dominant – negative mutation in either keratin 5 (KRTS) or the keratin 14 (KRT14) gene. 2. Junctional EB associated with Pyloric atresia – A major type of EB.Moderate to severe, occurs at part. 3. Dystrophic epidermolysis Bullosa is the severest associated with fibrosis and syndactyly. 4. Kindler syndrome: A rare genetic disease affects hands and feet.
EB is caused by one or more mutations in at least one of 20 different genes that synthesize structural proteins that are involve in adherence of epidermal to dermis namely Keratin, Laminin, type VII collagen, intergrins, lectin, desmoplakin, plakophilin and plakoglobin.
Generally patients present at birth to infancy and do well with conservative care and grow to adulthood [5].
We present a 2 days old female neonate with low birth weight (2.1kg) born to a 23 years old primiparous Lady following supervised term gestation and spontaneous vertex delivery who was noticed at birth to have localized bullous eruptions affecting parts of the skin of the upper and lower limbs which ruptured with minor mechanical trauma, resulting in ulceration. There is no associated family history among first and second degree relations and no history of burns. We could not carry out genetic test due to financial constrain, but clinically we believe is one of the EB type’s most likely EB simplex.
Patient was managed conservatively with satisfactory outcome.
The occurrence of EB in our health facility constitute a challenge since we are dealing with patients with limited funds to do genetic test, however we arrived at a favourable outcome and hope to follow-up our patient to adulthood.
E.B is a relatively rare skin fragility condition and simple measure of conservative care can give a satisfactory result hence we wish to share with you.
Dear Editorial Team, Clinical Medical Reviews and Reports. My experience with the journal was highly positive. The peer-review process was rigorous, constructive, and completed in a timely manner. The reviewers provided valuable comments that helped improve the quality and clarity of our manuscript. The editorial office was professional, responsive, and supportive throughout all stages of the publication process. Communication was clear and efficient, and any questions were addressed promptly. Overall, I found the journal to maintain high scientific standards and an excellent publication workflow. I would be pleased to consider submitting future work to this journal. Best wishes from, Elena Popa.
It was my pleasure to submit my testimonial concerning the Reviewer Board of our Scientific Journal “Brain and Neurological Disorders”. The Reviewers focused on some modifications and their contribution was helpful. The ladies of our Editorial Office were also supported my efforts. It was my honor to have such a co-operation and I am looking forward for more collaboration.
Dear Grace Pierce, Editorial Coordinator of Journal of Clinical Research and Reports, Thank you for the speedy and efficient peer review process. I appreciate the fact that your peer reviewers do not take months to respond like with some other journals. I would also like to thank the editorial office for responding quickly to my questions. It is an excellent journal. I plan to submit more manuscripts in the future. Best wishes from, Robert W. McGee
Dear Grace Pierce, Editorial Coordinator of Journal of Clinical Research and Reports, Working with you and your team on our recent publication in JCRR has been a truly wonderful and enjoyable experience. The responses were prompt, and the reviewers were patient, constructive, and highly professional. One reviewer in particular gave me the feeling that a professor was carefully reading and commenting on my coursework, which was deeply touching. The entire process was straightforward and hassle‑free, with no tedious online forms to complete. I highly recommend this journal. Best wishes from, DR Aibing Rao, Head of R&D
I Appreciate the Opportunity to Share my Experience with the Journal of Clinical Research and Reports. The peer review process was timely and constructive, and the feedback provided helped improve the quality of our manuscript. The editorial office was professional, responsive, and supportive throughout the process, ensuring smooth communication and efficient handling of the submission. Overall, it was a positive experience collaborating with your team.
Dear Mercy Grace, Editorial Coordinator of Obstetrics Gynecology and Reproductive Sciences, We would like to express our gratitude for your help at all stages of publishing and editing the article. The editors of the magazine answer all the necessary questions and help at every stage. We will definitely continue to cooperate and publish other works in the Obstetrics Gynecology and Reproductive Sciences! Best wishes from, Alla Konstantinovna Politova,
