research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
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research selenium and systemic lupus erythematosus (SLE): A double- blind randomised controlled trial
Selenium supplements can help improve symptoms and metabolic markers in lupus patients.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
research Clinical Profile of Methotrexate-resistant Juvenile Localised Scleroderma
Some children with localized scleroderma are rarely resistant to methotrexate, and no common profile for resistance was found.
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 Nail Matrix Pathology in Cronkhite–Canada Syndrome: The First Case Report
Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
research Systemic lupus erythematosus : from diagnosis to prognosis
Current SLE classifications need refinement, and the complement system is a key therapeutic target.
research Lupus Nephritis with Visual Field Defect Secondary to Hypertensive Retinopathy: A Case Report
Visual field defects in lupus nephritis can be caused by hypertensive retinopathy, not glaucoma or medication toxicity.
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 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research Divergence between initial and cumulative manifestations in systemic lupus erythematosus: effect of age and sex in a prospective lupus cohort from Pakistan
Age and sex affect lupus symptoms over time, requiring tailored monitoring.
research Interfacial Adipose Tissue in Systemic Sclerosis
Unique fat cells near fibrotic areas contribute to systemic sclerosis progression.
research First‐degree relatives of patients with systemic lupus erythematosus: Autoreactivity but not autoimmunity?
Relatives of lupus patients show signs of immune system activity but not full-blown lupus.
research Abdominal Pain in a Young Woman With Systemic Lupus Erythematosus
A young woman with lupus was treated with hydroxychloroquine and prednisone.
research Clinical analysis of rash in systemic lupus erythematosus
Rash in SLE patients indicates more severe disease.
research Comprehensive Case Analysis: Diagnosing and Managing Myositis in Newly Diagnosed Systemic Lupus Erythematosus Patients in Indonesia
Early diagnosis and treatment of myositis in SLE patients lead to better outcomes.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Cutaneous Ultrastructural Features of the Flaky Skin (fsn) Mouse Mutation
The flaky skin mouse mutation is a natural model for studying human psoriasis.
research Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor
Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
research P47 Condition overlay and diagnostic delay – A challenging case of fibromyalgia and systemic lupus erythematosus
Timely diagnosis of SLE is crucial due to symptom overlap with fibromyalgia.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Generalized maculopapular rash and fever
The man was diagnosed with lupus and improved with treatment.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Alopecia in Cronkhite-Canada syndrome
Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
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.