research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
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900-930 / 1000+ results research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Minoxidil-induced ophthalmic hypertension (case report)
Stopping minoxidil and using prostaglandin analogues improved the man's eye condition.
research Bilateral Nevus Comedonicus of the Eyelids
A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.
research Factors predisposing to intraoperative floppy-iris syndrome: An up-to-date meta-analysis
Certain medications and conditions increase the risk of intraoperative floppy-iris syndrome.
research Impending central retinal vein occlusion and granulomatous uveitis in a patient with Satoyoshi syndrome
Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
research Genetic defects of brain immunity in childhood herpes simplex encephalitis
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Reversible visual loss caused by combination therapy of alfuzosin and finasteride in a patient with uveitic glaucoma
Taking alfuzosin and finasteride together caused temporary vision loss in a glaucoma patient, but switching to tamsulosin helped.
research Recurrent Central Serous Retinopathy with Permanent Visual Loss in a U.S. Naval Fighter Pilot
A U.S. Naval fighter pilot suffered permanent vision loss in one eye due to recurrent central serous retinopathy.
research An Approach to the Patient with Hirsutism
The document concludes with guidance for doctors on diagnosing and treating hirsutism effectively and safely.
research Reply
Dr. Rasmussen disagrees with Alexander and Schor, emphasizing uncertainty in genital wart transmission and advocating for discussions on potential abuse and referrals in such cases.
research Finasteride-associated cataract and intraoperative floppy-iris syndrome
Finasteride may cause cataracts and floppy-iris syndrome.
research Management of Intraocular Foreign Bodies
Prompt treatment of intraocular foreign bodies is crucial to prevent blindness and improve outcomes.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Uveodermatological syndrome in dogs: A review of diagnosis, management, and ophthalmic patient needs
Uveodermatological syndrome in dogs is hard to manage and can lead to blindness despite treatment.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Neurosteroids Are Endogenous Neuroprotectants in an Ex Vivo Glaucoma Model
A natural steroid in the body may protect against eye damage in glaucoma.
research Finasteride for Chronic Central Serous Chorioretinopathy
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Steroid induced central serous retinopathy following follicular unit extraction in androgenic alopecia
Steroid use can cause a rare eye condition called central serous retinopathy, which can lead to permanent vision damage.
research CLINICAL PEARLS
The document discusses challenges in eye care, including treating melanoma before macular hole repair, bloody tears resolved by blood pressure control, eyelash regrowth in hair-pulling disorder with medication, a non-invasive method to detect eyelash mites, and the psychological factors affecting contact lens comfort.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Caterpillar hair-induced ophthalmitis causing exudative retinal detachment
Early treatment is crucial to prevent severe eye complications from caterpillar hair.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research 34 A patient with insulin-dependent diabetes mellitus 1 year after being diagnosed with membranous glomerulonephritis
A 9-year-old girl developed type 1 diabetes and alopecia after being treated for a rare kidney disease.
research Multiple Retinal Emboli and Medial Canthal Swelling Following Injection of Acellular Porcine Urinary Bladder Matrix for Hair Restoration
A woman had eye pain and vision loss after a hair growth treatment, but her symptoms improved after a month.