Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.

This case report on a 17-year-old with Vogt-Koyanagi-Harada syndrome found that while steroid treatments improved vision during uveitis episodes, recurring ocular issues led to significant long-term visual impairment.

In this study, researchers found that skin pigmentation alterations in a mouse model of Carney complex may be caused by specific dermal fibroblasts promoting melanogenic signaling.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

In this study, both the Fox and modified Crawford frontalis sling techniques effectively improved ptosis and cosmetic appearance, with the modified Crawford technique resulting in less lagophthalmos.

This report discusses the use of intralesional cidofovir and suggests it might be a viable option for treating SCC due to its successful outcome without observed systemic toxicity in this case.

This study observed that moderate to severe atopic dermatitis patients showed a higher prevalence of keratoconus compared to the general population, with 6.7% having manifest KC and 20% subclinical KC, highlighting the need for increased awareness among dermatologists.

In this study, researchers characterized the retinal structure and function of the Oat^rhg mouse model of gyrate atrophy, finding localized atrophy without significant retina-wide functional impact, suggesting the model may be useful for testing new treatments using multimodal retinal imaging.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

In this study, transgenic mice altered to express a Clim-inhibiting molecule under a keratin promoter showed corneal degradation and hair follicle failure, highlighting Clim proteins' role in maintaining these tissues.

This study suggests that with aging, mouse corneal renewal increasingly relies on Lrig1+ stem cells as CD44 expression and Wnt activity decline.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.

This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.

This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.

This case report details a 65-year-old woman who developed malignant melanoma in her right eye socket following previous eye trauma, treated by orbital exenteration.

This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.

The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.

This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

This research reports that partial orthokeratology combined with daytime spectacle correction effectively slowed myopic progression in high myopes, with a 63% reduction in axial elongation compared to spectacle use alone.

This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.

This case report suggests that intralesional cidofovir may be a consideration for treating squamous cell carcinoma, as it showed a successful outcome without systemic toxicity, although surgical excision remains preferred.

Zinc is essential for healthy optic nerves, and its deficiency can damage them.

This report describes a case of widespread Porokeratotic eccrine and hair follicle nevus in a 15-year-old woman with keratitis-ichthyosis-deafness syndrome, involving both eccrine ostia and hair follicle infundibula.

This paper highlights advances in Developmental Dynamics, noting how epoa-deficient zebrafish can model Diamond-Blackfan anemia like disorders for drug screening, Alx4 mouse models offer insights into craniofacial development, and mTORC1 signaling is crucial for retinal development.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

In this case, intralesional cidofovir was reported to successfully treat SCC without systemic toxicity, suggesting it may be considered as an alternative to surgical excision.

This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.