Generalized Epidermolysis Bullosa Simplex, Dowling Meara in Saudi Family, Case Report and Review of Literature, Saudi Arabia 2017-2018
Journal Title: International Journal of Medical Research Professionals - Year 2018, Vol 4, Issue 1
Abstract
A 4 years old Saudi girl, her neonatal period was characterized, since first 2 days of life by nails dysplasia and yellow pigmentation then progress to well demarcated, Serous and hemorrhagic, vary in size blisters. That improved gradually with age. The blisters started from the nails which lead to nail shedding, extremities then became generalized. Dermatological examination revealed multiple herpetiform hemorrhagic blisters and erosive lesions, slight scars and milia mainly on palm and sole. There is a history of similar skin lesion in his father. Confirmation of genetic mutation in KRT14 gene.
Authors and Affiliations
Bedoor A Fallatah, Osamah M Al-shareef
Keywords
Related Articles
- EP ID EP531034
- DOI 10.21276/ijmrp.2018.4.1.097
- Views 77
- Downloads 0
Role of Slit Skin Smear Examination and rK39 for Diagnosis of Post Kala-Azar Dermal Leishmaniasis
Introduction: Post Kala-azar dermal leishmaniasis is a complication of visceral leishmaniasis characterised by multiple hypopigmented, macular, maculopapular or nodular rash on the face, trunk or other part of the body....
Laparoscopic vs. Open Cholecystectomy in a Peripheral Teaching Hospital: A Retrospective Study
Objectives: To study the technique of laparoscopic cholecystectomy, to study common difficulties encountered in lap cholecystectomy, to evaluate the common complications of lap cholecystectomy, duration of intra venous t...
Symptomatic Medial Humeral Epicondylar Fracture Non-Union: Rare Presentation of a Relatively Common Injury
Background: Symptomatic non-union of medial humeral epicondylar fractures is a limited entity. Some studies recommend surgical excisions of the fragment, but the results are controversial. The purpose of this study is to...
Clinical Importance of Evaluation of Thyroid Function Status in Patients with Chronic Kidney Disease
Introduction: The incidence of thyroid disorders has been found to increase with increase in the severity of renal failure. This study was carried out for evaluation of thyroid function status in patients of chronic rena...
Laparoscopic Cholecystectomy for the Dissection of Gall Bladder: A Comparative Study of Harmonic versus Electrocautery
Introduction: Laparoscopic cholecystectomy is the revolutionary new method for the treatment of gallstone disease and has now become the gold standard for the surgical treatment of symptomatic cholelithiasis. The ultraso...