research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
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450-480 / 1000+ results research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Life threatening macrophage activation syndrome as the initial presentation of systemic lupus erythematosus: A case report and review of the literature
Macrophage activation syndrome can be a deadly first sign of systemic lupus erythematosus.
research Medical complications of anorexia nervosa and bulimia nervosa
Anorexia and bulimia lead to serious health problems and increased risk of death, requiring aggressive treatment.
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.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Malassezia Folliculitis versus Truncal Acne Vulgaris (Clinical and Histopathological Study)
Malassezia Folliculitis and truncal acne are different conditions requiring different treatments.
research Chemical Synthetic Disease Modifying Drugs (csDMARD) Used forRheumatoid Arthritis
Methotrexate is effective for rheumatoid arthritis but can cause side effects.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Clinical Manifestations of Dermatomyositis
Most patients with dermatomyositis had skin rash, itching, and muscle weakness, treated mainly with prednisolone and hydroxychloroquine.
research Editorial Board
People need different amounts of biotin based on age, and not getting enough can cause health problems.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Biochemical changes and liver tissue pathology in weanling Wistar albino rats with protein-energy malnutrition (PEM).
Low protein diets cause severe health issues in rats, but high protein diets can reverse these effects.
research Biology, diagnosis and treatment of Malassezia dermatitis in dogs and cats
The conclusion is that certain dog and cat breeds are prone to Malassezia dermatitis, which can be diagnosed with skin tests and treated with antifungal shampoos or medications, and preventing relapses involves managing underlying issues and maintaining good hygiene.
research Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population
The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research PA13 A hair’s breadth from misdiagnosis
A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
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 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 Methotrexate treatment of generalized granuloma annulare: a retrospective case series
Methotrexate improved skin condition in 64% of patients with generalized granuloma annulare.
research A different approach to hair analysis: Application to multiple sclerosis
Manganese levels in hair may be linked to multiple sclerosis.
research Prace poglądowe Folate supplementation in patients with psoriasis treated with methotrexate – effect on safety and efficacy
Folate may reduce methotrexate side effects in psoriasis patients, but its impact on effectiveness is unclear.
research Malignant Melanoma
The document's conclusion cannot be provided because the document is not readable or understandable.
research Pili torti in association with citrullinemia
A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
research Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves
Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.