research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
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960-990 / 1000+ resultsresearch Erythema Multiforme Like Lesions in a Case of Systemic Lupus Erythematosus
Erythema multiforme-like lesions can occur in lupus without drug use or herpes infection.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Antioxidants and Long Covid
The conclusion suggests that managing antioxidant levels and the calcium to magnesium ratio may help address Long Covid and related chronic fatigue conditions.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Under-diagnosed psychiatric syndrome. I: Trichotillomania.
Trichotillomania is a chronic condition where people uncontrollably pull out their hair, often starting in childhood.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
research 186 Mechanistic insights into Ritlecitinib-mediated immunomodulation in Alopecia Areata
research Effect of Neurosteroid Withdrawal on Spontaneous Recurrent Seizures in a Rat Model of Catamenial Epilepsy
Neurosteroid withdrawal increases seizure frequency in a rat model of catamenial epilepsy.
research Is lichen planus a marker for dyslipidemia and metabolic syndrome?
Lichen planus may be associated with a higher risk of metabolic syndrome.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research Outbreak of recombinant lumpy skin disease virus in yaks: high mortality and systemic pathogenesis in Qinghai-Tibet Plateau yak herds
A severe virus outbreak in yaks on the Qinghai-Tibet Plateau caused high death rates and requires targeted control measures.
research Non-nutritional rickets: Approach, precision medicine, and outcomes
Early diagnosis and tailored treatment improve outcomes for non-nutritional rickets.
research Rare Combination of Adverse Effects Associated With Lamotrigine Treatment
A young man had rare serious side effects from an epilepsy drug, leading to stopping the drug.
research Outcome Measures in Cutaneous Autoimmune Disease: Dermatomyositis and Lupus Erythematosus
The document concludes that better tools are needed to measure skin disease severity in dermatomyositis and cutaneous lupus erythematosus, and introduces the DSSI and CLASI as reliable instruments.
research Cushing's syndrome in the elderly: data from the European Registry on Cushing's syndrome
Older patients with Cushing's syndrome often have different symptoms and treatment outcomes compared to younger patients.
research Loose anagen hair syndrome in children of Upper Egypt
Loose Anagen Hair syndrome occurs in dark-skinned children and often improves on its own.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Intracranial hypertension as the first manifestation of systemic lupus erythematosus: A case report
Consider systemic lupus erythematosus in patients with unexplained intracranial hypertension.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Efficacy and safety of ritlecitinib, an oral JAK3 /TEC family kinase inhibitor, in adolescent and adult patients with alopecia totalis and alopecia universalis
Ritlecitinib helps regrow hair in people with alopecia totalis and universalis and is safe to use.
research Acral lymphomatoid papulosis
A woman had a rare skin condition with recurring painful nodules that heal in 6 weeks, often without needing treatment.
research Pubertal development in early adolescent girls: Relationships to mood, energy, restlessness, and certainty about self.
Early puberty in girls leads to intense moods, restlessness, and greater self-certainty.
research Scattered Skin Eruptions in a Patient With Inflammatory Bowel Disease
A woman with inflammatory bowel disease improved after treatment with ustekinumab for a rare skin condition associated with her disease.
research Skin disorders in elderly subjects
Every elderly patient had at least one skin condition, often linked to other diseases, highlighting the need for integrated skin and general healthcare in the elderly.
research Refractory Postsurgical Hypothyroidism in Nephrotic Syndrome
The patient's hypothyroidism improved with medication adjustments and careful management.
research A Case Report of Autoimmune Hemolytic Anemia with Deep Vein Thrombosis in a 16-year-old Girl - Is It Systemic Lupus Erythematosus?
A 16-year-old girl with autoimmune hemolytic anemia and deep vein thrombosis improved with treatment, possibly indicating systemic lupus erythematosus.