Results 131 to 140 of about 9,166,726 (386)
A rare case of trigeminal trophic syndrome with an extensive scalp, forehead, and upper eyelid ulceration in a patient with undiagnosed Alzheimer disease [PDF]
Pınar İncel Uysal+2 more
openalex +1 more source
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods+16 more
wiley +1 more source
Eyelid retraction during smiling in a patient with monocular congenital ptosis: a case report
Background Blepharoptosis is a common symptom in ophthalmology clinic, but eyelid retraction when smiling in a ptosis eye is a rare manifestation. Here we report a novel manifestation that eyelid retraction during smiling in a patient with monocular ...
Yiyang Zhao, Jing Fu, Jie Hao
doaj +1 more source
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy+15 more
wiley +1 more source
Eyelid Skin Disorders and Their Impact on the Ocular Surface
The skin is a barrier between the body and the external environment, it is the largest human organ. Healthy skin microbiota is harmless and beneficial to the skin. As a microbiological barrier, it protects against harmful microorganisms.
Ewa Mrukwa-Kominek
doaj +1 more source
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero+17 more
wiley +1 more source
The role of Helicobacter pylori in the development of inflammatory eyelid diseases
Background. Blepharitis is one of the most common eye diseases: it accounts for 23.3 % of the total number of patients with inflammatory eye diseases worldwide. 40.2 % of these patients seek outpatient care.
E. P. Kazantseva+8 more
doaj +1 more source
A rare case of an idiopathic extraocular muscle abscess [PDF]
Diplopia has a diverse range of ophthalmological, neurological, autoimmune, neoplastic and infectious causes. However it is very rare for an extraocular muscle abscess to occur.
De Bono Agius, Maria, Vella, Mario
core
Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo+5 more
wiley +1 more source