Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.

This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.

This review discusses the potential of repeated low-level red-light therapy to inhibit myopia progression through metabolic effects, highlighting its molecular and cellular impact, but reports no new clinical results.

In this discussion, the authors highlight the murine cornea as a powerful model for stem cell research, revealing new insights into stem cell properties, differentiation flexibility, and the importance of the stem cell niche, with potential implications for understanding various tissues, diseases, and therapies.

This case report describes a 45-year-old man with a pituitary macroadenoma whose symptoms and tumor size improved significantly after one month of treatment with cabergoline.

This study identified a subpopulation of neural crest-derived progenitor cells in human corneal endothelial tissue from normal and Fuchs endothelial corneal dystrophy donors, which may have potential for future cell therapy development.

This report describes two patients with ichthyosis linearis circumflexa exhibiting symptoms resembling Netherton's disease, noting multiple hair shaft defects and discussing a possible connection to aminoaciduria.

This report discusses two cases of porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus, suggesting they may represent a single clinical entity, but reports no therapeutic outcomes.

In this case report, a patient with Cronkhite-Canada syndrome also had mononeuritis multiplex, and the authors suggest that an autoimmune mechanism may be involved based on steroid responsiveness and electrophysiological findings.

This study suggests that typical skin lesions in Carney complex may originate from the pro-melanogenic activity of a specific dermal fibroblast population influenced by PKA signaling.

This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.

This study demonstrates that in vivo live imaging reveals how distinct stem cell activities in the limbal niche coordinate corneal regeneration.

This case report describes an unusual occurrence of late-onset nevus comedonicus affecting both eyelids, with complications including bilateral ptosis and ectropion.

This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

This study reports that a new transplantation technique using tissue-engineered stem cells successfully reconstructed corneal epithelium in an animal model of severe ocular surface disease.

This report details the clinical presentation of an 18-year-old female with Kallmann syndrome, noting her ocular issues and differences in sexual development. The researchers treated her eye conditions cosmetically with superficial keratectomy and amniotic membrane graft, followed by corneal tattooing and strabismus correction.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

This study found that ocular comorbidities, particularly errors of refraction, are common in patients with Alopecia Areata, but dermoscopic findings are not predictive of these ocular issues.

This study found that in the Jordanian population, elevated cortisol levels were significantly associated with progressive keratoconus, whereas lower cortisol levels were linked to stable disease, suggesting cortisol may be a potential biomarker for monitoring keratoconus progression.

This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.

This study observed that overexpression of the enzyme ODC in transgenic mice caused hair loss and skin changes similar to human papular atrichia, suggesting that ODC might be involved in a critical hair follicle function pathway.

In this case report, researchers observed that local radiation therapy to the orbits may not be sufficient to halt progression of new retinal lesions in older patients, even when the disease initially appears confined to the intraocular space.

This case study found that a 7-year-old girl's crystalline cataract had sulfur-containing amino acids likely cystine, and was associated with abnormal hair conditions.

This case report from Nepal describes a five-year-old boy with Hutchinson Gilford Progeria Syndrome experiencing ocular manifestations, highlighting the role of ocular senescence in this genetic disorder.

This study found that most hair shaft abnormalities can be accurately diagnosed using a handheld dermoscope in a clinical setting.

This case report describes a 26-year-old woman with an uncommon presentation of varicella zoster virus interstitial keratitis misdiagnosed as corneal intraepithelial neoplasia; the correct identification using diagnostic tools such as AS-OCT prevented unnecessary surgical interventions and allowed for effective antiviral treatment.

In this study, a case was reported where oral Minoxidil led to severe ocular complications, specifically Central Retinal Vein Occlusion and Cilioretinal Artery Occlusion, resulting in sudden vision loss which improved upon discontinuation.

This study found that synchrotron radiation ECD imaging provides new insights into solid-state Finasteride by highlighting the significant role of anisotropy in local domains for chiroptical measurements.