research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
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research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research "Treatment of Epstein-Barr Virus, Chronic Fatigue, Mitochondrial Dysfunction, and Insomnia"
Improving mitochondrial health may help alleviate symptoms like chronic fatigue and depression.
research 554 Repurposing a clinical antimalarial for the therapeutic induction of lethal ER stress targeting BRAF-kinase inhibitor-resistant malignant melanoma
Mefloquine, an antimalarial drug, is effective in killing melanoma cells resistant to other treatments by causing lethal stress in the cells.
research Haff disease associated with the ingestion of the freshwater fish Mylossoma duriventre (pacu-manteiga)
Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
research A Case of Idiopathic Follicular Mucinosis Treated Successfully with Cyclosporine.
Cyclosporine effectively treated a woman's stubborn skin condition.
research 0960 Evidence for resident memory T cells and necroptosis as drivers of fibrosis in eosinophilic fasciitis and morphea
Resident memory T cells and necroptosis may drive fibrosis in eosinophilic fasciitis and morphea.
research 062 A case of autoimmune facial swelling, weakness and sensorineuropathy with lower limb myositis
The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
research An Unusual Case of Mycosis Fungoides Presenting with Multiple Atypical Morphologies in a Photoexacerbated Distribution
Mycosis fungoides can have unusual symptoms and may be misdiagnosed, but specific cell markers might suggest a lower risk of worsening.
research Teriflunomide in multiple sclerosis: an update
Teriflunomide effectively reduces relapses and disability in MS and has a manageable safety profile.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research E58 The rheumatologic masquerader: a case report on SLE-dermatomyositis-systemic scleroderma overlap syndrome
Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
research Serum Level of Macrophage Migration Inhibitory Factor (MIF) in Egyptians With Alopecia Areata and Its Relation to the Clinical Severity of the Disease
Higher MIF levels in alopecia areata patients suggest it could be a treatment target and disease predictor.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research LUPUS AROUND THE WORLD Clinical and immunological manifestations in 151 SLE patients living in Dubai
SLE symptoms in Dubai are similar to those in other Arab and Western countries.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Asymptomatic SARS-COV2 Infection or COVID-19 vaccination effect for severe multisystem inflammatory syndrome in a 6-year-old girl: case report and review of the literature
COVID-19 vaccination may be linked to MIS-C in children, highlighting the need for quick diagnosis and treatment.
research Dermatoses of pregnancy
Pregnancy can cause various skin changes and diseases, with PUPPP being the most common skin condition specific to pregnancy.
research Aging of hair
Hair ages due to genetics and environmental factors, leading to graying and thinning, with treatments available for some conditions.
research A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Pathways to inflammation: acne pathophysiology
Acne is caused by genetics, diet, hormones, and bacteria, with treatments not yet curative.
research The genetics of hair shaft disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Alopecia areata update
Despite progress in treatment, the exact cause of Alopecia areata is still unknown.
research Randomized comparison of topical betamethasone valerate foam, intralesional triamcinolone acetonide and tacrolimus ointment in management of localized alopecia areata
Intralesional triamcinolone acetonide is the most effective treatment for localized alopecia areata.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Effective medical treatment for common baldness in women
Antiandrogen therapy helped increase hair growth in women with hormonal imbalances related to baldness.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Evaluation of lipid levels in androgenetic alopecia in comparison with control group
Men with a certain type of hair loss (AGA) have higher bad cholesterol and lower good cholesterol levels, making them more likely to get heart disease.
research Sunscreen and facial skincare products in frontal fibrosing alopecia: a case–control study
Regular use of sunscreen may be linked to frontal fibrosing alopecia.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.