research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
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540-570 / 1000+ results research A Very Unusual Cause of Diarrhea in a 60-Year-Old Man
The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
research Pattern of Cutaneous Manifestations in Systemic Lupus Erythematosus: A Cross-Sectional Hospital-Based Study
Skin issues are common in lupus patients, highlighting the need for thorough skin checks.
research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
research Chronic urticaria versus dermatomyositis in a case of T- cell large granular lymphocytic leukemia
The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
research Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
research Neuropsychiatric Systemic Lupus Erythematosus Presenting as Bipolar I Disorder With Catatonic Features
A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
research Linear and Annular Lupus Panniculitis of the Scalp with Annular Lupus Panniculitis of the Face in a Child
A 4-year-old girl with a rare lupus condition was successfully treated with oral corticosteroids, leading to full recovery and hair regrowth.
research The spectrum of cutaneous manifestations in lupus erythematosus—the Italian experience
In Italian patients with lupus, the most common skin issue was chronic cutaneous lupus, especially discoid lesions, and nonspecific skin problems occurred in about a third of those with systemic lupus, mainly during active disease.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research The Case ∣ Fever, rash, and positive Ehrlichia antibodies
The woman was diagnosed with systemic lupus erythematosus (SLE) after initial misdiagnosis and improved with proper treatment.
research Vogt-Koyanagi-Harada Syndrome from Dermatological Perspective: A Case Report
Early diagnosis and aggressive treatment are essential for managing Vogt-Koyanagi-Harada syndrome effectively.
research Renal tubular dysfunction presenting as recurrent hypokalemic periodic quadriparesis in systemic lupus erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
research TATA LAKSANA TERKINI PENYAKIT SINDROM STEVENS-JOHNSON (SSJ)/ NEKROLISIS EPIDERMAL TOKSIK (NET)
Early diagnosis, stopping the suspected drug, and supportive care are crucial for treating Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.
research Cronkhite-Canada Syndrome: an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps
Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
research Multiple Eruptive Dermatofibromas in a Patient With Systemic Lupus Erythematosus Treated With Methylprednisolone
A woman with lupus developed rare skin growths that went away on their own.
research Interfacial Adipose Tissue in Systemic Sclerosis
Unique fat cells near fibrotic areas contribute to systemic sclerosis progression.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
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 Intermittent and Persistent Type 2 lupus: patient perspectives on two distinct patterns of Type 2 SLE symptoms
SLE patients experience two patterns of non-inflammatory symptoms: intermittent and persistent.
research BH10 Granulomatous scarring alopecia associated with rheumatoid arthritis: a case report with distinct folliculocentric granulomas histologically mimicking granulomatous alopecia areata
A woman with rheumatoid arthritis had a unique type of scarring hair loss not caused by infection, requiring early treatment to avoid permanent hair loss.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research Acute pancreatitis: An unusual presentation of systemic lupus erythematosus
Early diagnosis and aggressive treatment are crucial for managing SLE-related pancreatitis in children.
research S-1 induced discoid lupus erythematosus-like lesions and long-term complete response for para-aortic lymph node recurrence of pancreatic ductal adenocarcinoma: a case report
S-1 treatment led to a complete response in pancreatic cancer with manageable side effects.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research Cutaneous scedosporiosis
A fungal skin infection was successfully treated with medication and compression therapy.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels
Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.