research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
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300-330 / 1000+ resultsresearch A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research An unusual presentation of dermatomyositis: The type Wong variant revisited
A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
research The Mechanisms of Anabolic Steroids, Selective Androgen Receptor Modulators and Myostatin Inhibitors
Anabolic steroids boost muscle growth, SARMs increase muscle mass and bone density without side effects, and myostatin inhibitors block a protein that stops muscle growth, but each has potential risks.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Alopecia areata and myasthenia gravis presenting as paraneoplastic phenomena of breast cancer
Alopecia areata and myasthenia gravis can occur as rare symptoms of breast cancer.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Distinctive histopathologic findings in linear morphea (en coup de sabre) alopecia
The study found unique skin changes in a rare type of alopecia linked to a skin condition called linear morphea.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Steatocystoma Multiplex
Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
research Diagnosis of sports‐related dermatoses
Different sports can cause specific skin conditions that need proper diagnosis and treatment.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research Masquerading of trichotillomania in a family with monilethrix
It's important to consider genetic hair disorders when diagnosing hair loss.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Telecommunication in the COVID-19 era: As an assessment tool for patients with dermatomyositis
Remote monitoring of chronic diseases like dermatomyositis is challenging and needs better tools for early detection and patient education.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Multisystemic eosinophilic epitheliotropic disease in a horse in Brazil
A horse in Brazil with skin and gut issues was diagnosed with a severe disease and had to be euthanized.
research Editorial: Mechanisms and novel treatments of muscle wasting
High-dose testosterone with finasteride improves muscle health in males with spinal cord injury.
research Treatment of cutaneous leiomyomas with botulinum toxin. Case report and review of literature
Botulinum toxin injections effectively relieve pain from cutaneous leiomyomas.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Multiple paraneoplastic syndromes: Myasthenia gravis, vitiligo, alopecia areata, and oral lichen planus associated with thymoma
Removing the thymoma improved the man's autoimmune conditions.