research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
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180-210 / 1000+ results research Unusual Case Presentation of Systemic Lupus Erythematosus in a Young Woman
A young woman with severe symptoms was diagnosed with SLE and improved significantly after treatment.
research Cronkhite-Canada syndrome: case description
An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
research Chinese SLE Treatment and Research Group Registry (CSTAR) XIII: prevalence and risk factors for chronic scarring alopecia in patients with systemic lupus erythematosus
About 8% of people with systemic lupus erythematosus have chronic scarring alopecia, with certain symptoms and positive antibodies increasing the risk, while immunosuppressants may lower it.
research Referee report. For: Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus [version 2; peer review: 1 approved]
Digital gangrene can be an early sign of late-onset systemic lupus erythematosus.
research Systemic Lupus Erythematosus: Symptoms and Signs at Initial Presentations
Most patients with Systemic Lupus Erythematosus experience fatigue, skin issues, and joint pain.
research Clouston syndrome associated with eccrine syringofibroadenoma
Clouston Syndrome can be linked to rare sweat gland tumors.
research SUN-069 A 14 Year Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research Bilateral anterior uveitis as a presenting manifestation of sarcoidosis and syphilis
Surgical excision is the best treatment for SCC.
research Severe Physical Complications among Survivors of Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis
SJS/TEN survivors often have severe, overlooked long-term physical problems that are not properly treated after leaving the hospital.
research The Clinical Presentation of Systemic Lupus Erythematosus
Systemic Lupus Erythematosus has varied symptoms and is hard to diagnose, affecting many body parts and requiring careful clinical judgment.
research Fundus changes in systemic lupus erythematosus
Regular eye exams are important for detecting serious complications in lupus patients.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Graham‐Little Piccardi Lassueur syndrome and review of the literature
GLPLS is a rare skin condition with specific hair loss and skin symptoms.
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 Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Erosive Lichen Sclerosus—A Clinicopathologic Subtype
Erosive lichen sclerosus is a distinct subtype with specific skin features, and treatment led to complete resolution in half of the cases.
research AB0163 ANTI-KU ANTIBODIES: MUCH MORE THAN SCLEROMYOSITIS
Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
research Clinical Patterns of Cutaneous and Mucosal Lesions in Patients with Systemic Lupus Erythematosus
Skin problems are common and early signs of Systemic Lupus Erythematosus, and certain immune system markers are important for diagnosis and treatment.
research Systemic lupus erythematosus presenting with homonymous hemianopia
Lupus can cause unusual vision problems, so it's important to consider it in such cases.
research Dissecting the Heterogeneity of Skin Gene Expression Patterns in Systemic Sclerosis
Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
research Multibacillary leprosy with positive serology misdiagnosed as systemic lupus erythematosus
A woman was wrongly diagnosed with lupus but actually had leprosy.
research Lupus Eritematosus Sistemik pada Pria
Men with systemic lupus erythematosus often have more severe symptoms but can respond well to treatment.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Atypical Presentation of Systemic Lupus Erythematous with Vasculitic Polyneuropathy
A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
research Exploring differential gene expression and biomarker potential in systemic lupus erythematosus: a retrospective study
FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.
research Referee report. For: Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus [version 2; peer review: 2 approved]
Digital gangrene can be an unusual first sign of late-onset lupus.
research SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure
Satoyoshi syndrome can occur without causing premature ovarian failure.