Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.

This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.

This study found that oral spironolactone improved certain biomarkers in central serous chorioretinopathy patients, but recurrence, especially in older patients, was relatively common.

This review discusses Graham-Little Piccardi-Lasseur syndrome, a rare dermatosis with limited treatment options, emphasizing the importance of early diagnosis through physical exam and dermoscopy, but reports no new results.

This case report details two patients with Graham-Little-Piccardi-Lassueur syndrome who showed marked skin lesion improvement with corticosteroid treatment, though cicatricial scalp alopecia remained unresponsive.

This report details a case of a 3-year-old child with Clouston syndrome, a rare inherited disorder affecting nails, skin, and hair, highlighting the need for supportive management due to the absence of treatment options.

This retrospective study in Morocco confirms that Stevens-Johnson and Lyell syndromes lead to severe ocular and unsightly mucocutaneous sequelae, significantly affecting patients' social and professional integration.

This study concluded that erosive lichen sclerosus is a distinct subtype marked by red patches on hairless skin, while ulcerated lichen sclerosus typically results from trauma in uncontrolled dermatosis.

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.

This case report describes a 45-year-old woman with an SLE-SSc overlap syndrome who experienced significant improvement in symptoms after tailored immunosuppressive therapy including prednisone and mycophenolate mofetil.

This study examined medical comorbidities and medications among women with vulvar lichen sclerosus, contributing insights for comprehensive treatment strategies, but does not report new clinical results.

This study found that the ocular surface epithelium in mice contains distinct stem cell populations with unique cell division dynamics that change behaviorally in response to different levels of injury.

This study describes the development of the EUSCLE Core Set Questionnaire for cutaneous lupus erythematosus, designed to standardize data collection, facilitate epidemiological analysis, and guide diagnostic and therapeutic strategies across European centers.

In this case report, the patient was diagnosed with oral lichen sclerosus following a detailed clinical and histological examination and referral to dermatology, and it underscores the importance of interdisciplinary collaboration in managing this rare condition and its associated risks.

This study concluded that dilated cardiomyopathy in Ctsl-deficient mice is mainly due to the lack of cathepsin L in cardiomyocytes, with additional heart stress from the fur defect.

This study found that chemical lumbar sympathectomy with 5% phenol effectively treated idiopathic livedo reticularis in most patients, offering a potential long-lasting solution with repeatable efficacy upon recurrence.

A patient had both chronic lupus and systemic scleroderma, requiring careful treatment to manage symptoms.

This case report describes a rare instance of double-lined frontoparietal scleroderma en coup de sabre and suggests a genetic basis involving postzygotic mosaicism.

This study found that the locked cheek lift technique effectively corrects cheek gravitational migration and reduces the lid cheek distance with minimal complications, maintaining results for over a year.

In this study, researchers analyzed skin tumors from patients with CYLD cutaneous syndrome and found that loss of CYLD function is linked to changes in cellular signaling pathways, particularly NF-κB signaling, and leads to increased secretion of specific extracellular matrix proteins.

This descriptive study reported that Chronic Cutaneous Lupus Erythematosus was the most prevalent subtype, highlighting distinct clinical and pathological features among Cutaneous Lupus Erythematosus subtypes.

This article reports that while surgical excision is often the best treatment for SCC, intralesional cidofovir also showed success without systemic toxicity in the case discussed.

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 established a murine chronic graft-versus-host disease model with scleroderma features, showing typical skin changes and cellular infiltrates associated with the condition.

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 report describes two scalp lichen simplex chronicus cases with hair loss and intense itching, noting unique dermoscopic and histopathological features.

In this study, three cases of Cronkhite-Canada syndrome revealed small bowel mucosal lesions, but these findings did not correlate with clinical symptoms or steroid treatment outcomes.

In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.

In this case report, a 53-year-old woman with Little-Graham-Piccardi-Lassueur-Syndrome responded well to a treatment regimen of hydroxychloroquine, methotrexate, and other therapies, effectively halting the progression of this rare dermatosis characterized by alopecia and hyperkeratotic eruptions.