research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
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research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research A case of widespread actinic granuloma with associated drug-induced lupus erythematosus
A man developed a rare skin condition and drug-induced lupus, highlighting the need for biopsy in diagnosing skin issues caused by sunlight.
research Extensive scleredema adultorum with loss of eccrine glands
A rare case of scleredema in a diabetic woman showed loss of sweat glands, causing heat strokes, with treatment only slightly improving symptoms.
research Anthelminthic drugs
Some people have severe allergic reactions to anthelminthic drugs, but these are often due to the parasites, not the drugs.
research Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa
Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Sustained hair regrowth with ritlecitinib to Week 48 in patients with alopecia areata: post hoc analysis of the ALLEGRO phase 2b/3 study
Ritlecitinib helped most alopecia areata patients regrow hair by Week 48.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research Ruxolitinib: A novel molecule in the management of dermatological disorders
Ruxolitinib cream effectively treats skin conditions like atopic dermatitis and vitiligo with minimal side effects.
research Lepromatous Leprosy in a Renal Transplant Recipient
A kidney transplant patient developed leprosy, likely due to immunosuppression and genetic factors, and improved with treatment.
research Acute fish liver intoxication: report of three cases.
Eating grouper fish liver can cause vitamin A poisoning with severe symptoms.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Treatment of Lipodystrophy with Troglitazone
Troglitazone increases subcutaneous fat in lipodystrophy patients.
research Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research 696 MEK and BRAF inhibitors augment the production and accumulation of sebum in hamster sebocytes
MEK and BRAF inhibitors increase sebum production and accumulation, which could cause acne-like side effects.
research Granulomatous Microscopic Colitis Due to Allopurinol
Allopurinol may cause rare granulomatous microscopic colitis.
research P56 Azathioprine-induced alopecia totalis and knuckle hyperpigmentation in a child with uveitis: test before you leap!
Monitor for early signs of azathioprine toxicity and check blood counts regularly.
research S5550 Zinc Induced Liver Failure From Remedy to Ruin: Zinc Overload and Liver Failure
Excessive zinc intake can cause liver failure.
research A Case of 300 Pound Weight Loss, Malabsorption, Malnutrition and Protein Losing Enteropathy Due to Systemic Lupus Erythematosis of the Small Intestine
Recognizing lupus as a cause of severe gut issues is crucial for effective treatment.
research Systemic Lupus Erythematosus With Acute Inflammatory Demyelinating Polyneuropathy: A Case Report and Review of the Literature
A woman with lupus and severe nerve damage improved with specific treatments.
research Repigmentation of hair following adalimumab therapy
A patient's grey hair regained color during treatment with adalimumab.
research Regenerative Versus Nonregenerative Repair of the Renal Medulla After Reversal of Ureteral Obstruction
Regenerative repair is essential to prevent long-term kidney function issues after obstruction.
research BH10 Nailing the diagnosis
Consider amyloidosis in patients with specific nail changes and check for systemic issues.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Effects of Abuse of Anabolic Androgenic Steroids on Iraqi Athletes
Abuse of anabolic steroids in Iraqi athletes leads to negative effects on hormones, liver and kidney function, blood sugar, and cholesterol levels.
research Protein-Losing Enteropathy as the First Presentation of Systemic Lupus Erythematosus in a Resource-Limited Setting in Sri Lanka: A Case Report
A woman in Sri Lanka was diagnosed with lupus after presenting with protein loss from the gut and other symptoms.
research Unique Cutaneous Reaction to Second- and Third-Generation Tyrosine Kinase Inhibitors for Chronic Myeloid Leukemia
Certain leukemia drugs can cause severe skin reactions that may require stopping treatment.