external ocular manifestation in autosomal dominant dystrophic epidermolysis bullosa: a case report
نویسندگان
چکیده
purpose: to present a case of autosomal dominant dystrophic epidermolysis bullosa with symble-pharon formation due to eye rubbing. case report: a 10-year-old girl suffering from blistering and ulcerative lesions of the trunk and palms and dystrophic nails since childhood was referred to our clinic with a symblepharon connecting the medial portion of the right upper lid to the upper nasal quadrant of the cornea. the central cornea in both eyes exhibited a mild subepithelial opacity. she had history of eye rubbing due to foreign body sensation in the right eye, resulting in red eye and blister-like conjunctival lesions 3 years ago. she had undergone surgical symblepharon removal which resulted in recurrence of the symblepharon of more severity. conclusion: dominant dystrophic epidermolysis bullosa may be accompanied by external ocular manifestations. protection of the eye from minor trauma such as rubbing may be useful in the prevention of ophthalmic complications in this entity.
منابع مشابه
External Ocular Manifestations in Autosomal Dominant Dystrophic Epidermolysis Bullosa; a Case Report
PURPOSE To present a case of autosomal dominant dystrophic epidermolysis bullosa with symblepharon formation due to eye rubbing. CASE REPORT A 10-year-old girl suffering from blistering and ulcerative lesions of the trunk and palms and dystrophic nails since childhood was referred to our clinic with a symblepharon connecting the medial portion of the right upper lid to the superonasal quadran...
متن کاملDystrophic Epidermolysis Bullosa in Pregnancy: A Case Report of the Autosomal Dominant Subtype and Review of the Literature
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. There are three main categories of EB: simplex, junctional, and dystrophic. This classification is based on the level of tissue separation within the basement membrane zone and this is attributed to abnormalities of individual or several anchoring proteins that form t...
متن کاملEpidermolysis Bullosa Puriginosa: Report of a Case
Epidermolysis Bullosa Puriginosa is a genetic mechanobullous disease characterized by pruritus, lichenified or nodular prurigo-like lesions, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and albopapuloid lesions that appear at birth or later. Scarring and prurigo are most prominent on the shins. Herein, we report a case with a history of blisters since childhood foll...
متن کاملA mutation-independent therapeutic strategy for dominant dystrophic epidermolysis bullosa.
Julia Spoendlin, Johannes J. Voegel, Susan S. Jick and Christoph R. Meier Basel Pharmacoepidemiology Unit, Division of Clinical Pharmacy and Epidemiology, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland; Hospital Pharmacy, University Hospital Basel, Basel, Switzerland; Galderma Research & Development, Sophia Antipolis, France and Boston Collaborative Drug Surveill...
متن کاملDystrophic epidermolysis bullosa: a review
Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type VII collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable ulcers, extensive scarring, malnutrition, and mali...
متن کاملPretibial dystrophic epidermolysis bullosa*
Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. In this group, there are autosomal dominant and recessive inheritances. The pre-tibial form is characterized by...
متن کاملمنابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
بیناجلد ۱۳، شماره ۱، صفحات ۱۲۲-۱۲۵
میزبانی شده توسط پلتفرم ابری doprax.com
copyright © 2015-2023