research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
Search
for
Sort by
Research
450-480 / 1000+ results
research Anticonvulsant hypocalcaemia.
Long-term use of seizure medications can disrupt calcium metabolism, but this can be treated with vitamin D or UV light and does not affect seizure control.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Subclinical hypothyroidism does not influence the metabolic and hormonal profile of women with PCOS
Mild thyroid issues don't affect the metabolism and hormones of women with PCOS.
research Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism
Borderline newborn screening results should be carefully evaluated to prevent delayed diagnosis of thyroid issues.
research Symptoms of ASIA Syndrome in a Female Patient with Tattoos – A Case Report
Tattoos may trigger autoimmune symptoms in some people.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Experimental Production of Cutaneous Calcinosis and Sclerosis with Dihydrotachysterol (AT-10) 1
Giving dihydrotachysterol to mother rats caused skin hardening and bone issues in their babies through milk.
research A case of alopecia areata multiplex accompanied by chronic idiopathic thrombocytopenic purpura
A rare case shows alopecia areata and ITP occurring together, needing more research.
research Keratosis Pilaris-like Eruption during Treatment of Chronic Myeloid Leukemia with Tyrosine Kinase Inhibitors: Literature Review and Report of a Case Related to Imatinib
Some leukemia treatments can cause skin reactions similar to keratosis pilaris.
research STUDY OF CUTANEOUS MANIFESTATIONS IN THYROID DISORDERS
Skin problems are common in thyroid disorders, with dry skin in hypothyroidism and warm, soft skin in hyperthyroidism.
research Psoriatic Alopecia/Alopecia Areata‐Like Reactions Secondary to Anti‐Tumour Necrosis Factor‐Alpha Therapy
Anti-TNF therapy can cause a rare hair loss condition similar to alopecia areata.
research Autoimmune gastritis and parietal cell reactivity in two children with abnormal intestinal permeability
Children with autoimmune gastritis showed improved intestinal health over time and should be checked for other autoimmune conditions.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Thyroid Disease in Alopecia Areata, Lichen Planopilaris, and Frontal Fibrosing Alopecia—A Case Control Study of 144 Patients
Alopecia is not a significant predictor of thyroid disease when age and sex are considered.
research Lucio Phenomenon mimicking with Vasculo necrotic Erithema Nodosum Leprosum: A Case Report
A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
research Acute severe hypokalemia caused by treatment of tongue squamous cell carcinoma with docetaxel and cisplatin: A case report
Chemotherapy with docetaxel and cisplatin can cause severe low potassium, requiring careful monitoring and treatment.
research Overexpression of parathyroid hormone-related protein in the skin of transgenic mice interferes with hair follicle development.
Too much parathyroid hormone-related protein in skin disrupts hair growth in mice.
research Case Report: Hypopituitarism Masquerading As Failure to Thrive in a 75‐Year‐Old Woman
Elderly patients with frailty should be checked for hypopituitarism, as treatment can greatly improve their health and lifespan.
research Treatment of Satoyoshi syndrome: a systematic review
Corticosteroids are the most effective treatment for Satoyoshi syndrome.
research Thyroid-Stimulating Hormone, a Novel, Locally Produced Modulator of Human Epidermal Functions, Is Regulated by Thyrotropin-Releasing Hormone and Thyroid Hormones
The skin produces and responds to thyroid-stimulating hormone, which is controlled by other thyroid-related hormones.
research [A case of generalized komuragaeri disease (Satoyoshi disease) treated with glucocorticoid].
Glucocorticoid treatment improved symptoms in a girl with Satoyoshi disease.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Hypertensive urgency in a child with focal epilepsy: Is it sodium valproate induced?
Sodium valproate can cause serious high blood pressure in children.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Fatal Toxic Epidermal Necrolysis Associated with Minoxidil
Minoxidil can cause deadly skin reaction; monitor patients closely.
research Frequency of Autoimmune Disorders in Patients of Alopecia Areata: A Cross sectional Survey
Alopecia areata patients often have autoimmune disorders, especially thyroid issues.
research A Rare Type of Radiation-Induced Alopecia: Proton-Induced Alopecia
A woman's hair grew back after treatment for a rare hair loss caused by proton therapy.
research Psoriatic Alopecia/Alopecia Areata–Like Reactions Secondary to Anti–Tumor Necrosis Factor-α Therapy: A Novel Cause of Noncicatricial Alopecia
Anti-TNF therapy can cause a unique type of hair loss that may get better with topical treatments without stopping the therapy.