research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
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research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice
A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
research Diagnostic Role of Anterior Segment Optical Coherence Tomography in an Atypical Presentation of Varicella Zoster Virus Interstitial Keratitis: A Case Report
AS-OCT is crucial for diagnosing VZV interstitial keratitis and avoiding unnecessary treatments.
research Central chorioretinopathy associated with topical use of minoxidil 2% for treatment of baldness
Using 2% minoxidil for baldness treatment might cause vision distortion due to fluid build-up under the retina.
research Bilateral circumscribed haemangioma of the choroid not associated with systemic vascular syndrome
Intralesional cidofovir might be a good alternative treatment.
research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research Current Therapeutic Approaches to Chronic Central Serous Chorioretinopathy
New treatments for chronic central serous chorioretinopathy show promise in preventing permanent vision loss.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Brown shadow in lichen nitidus: A dermoscopic marker!
A brown shadow seen in dermoscopy is a marker for lichen nitidus.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
A patient with congenital erythropoietic porphyria showed eye issues due to porphyrin buildup.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research CUTANEOUS MASTOCYTOSIS IN CHILDREN: AN INDIAN EXPERIENCE
Fox Fordyce disease can occur in prepubertal girls and may be underdiagnosed.
research Retinoids Modulate MITF: A Novel Mechanism in the Regulation of Melanogenesis - eScholarship
Retinoids can help treat skin pigmentation disorders by affecting melanin production.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Reflectance Confocal Microscopy of the Yellow Dot Pattern in Alopecia Areata
Reflectance confocal microscopy confirms that yellow dots are signs of damaged hair follicles in alopecia areata.
research Alopecia Areata with Renal Dysgenesis
Alopecia areata may be linked to kidney issues, but more research is needed.
research Interventions for central serous chorioretinopathy: a network meta-analysis
No treatment is clearly better for central serous chorioretinopathy, and more research is needed.
research Novel approaches to characterize age‐related remodelling of the dermal‐epidermal junction in 2D, 3D and in vivo
3D imaging shows clearer details of skin structure changes with age.
research E031 Retinal vasculitis with Libman-Sacks endocarditis as presenting features of a systemic lupus erythematosus with antiphospholipid antibody syndrome patient
A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research Dermoscopy of annular elastolytic giant cell granuloma
Dermoscopy helped diagnose a rare skin disease which slightly improved with treatment.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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 42357 Bullous pemphigoid presenting as erythema multiforme-like targetoid lesions
Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.