research The HAIR-AN syndrome : a case report
Treatment improved symptoms in a woman with HAIR-AN syndrome.
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research A 15-YEAR-OLD FEMALE PATIENT DIAGNOSED WITH SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) AND INITIALLY PRESENTED WITH LUPUS NEPHRITIS, CEREBRITIS, AND DIFFUSE ALVEOLAR HEMORRHAGE (DAH)
Early recognition and treatment of severe SLE symptoms can improve outcomes.
research Mania in Hyperandrogenism, Insulin Resistance, and Nigricans Acanthosis Syndrome
Stopping birth control pills may have triggered a manic episode in a woman with HAIR-AN syndrome.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
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 Raynaud Phenomenon-Reply
Doctors disagree on whether Raynaud phenomenon often leads to serious diseases, but agree that patients should be monitored for possible progression while being reassured. Rapid weight loss may cause hair loss.
research Hyperammonemia with Valproic Acid: Colonic Ischemia Associated with “Triptan” Use Visual Side Effects with Pegylated Interferon: Alopecia Areata with Infliximab: Adverse Effects Seen with Medications Used for Irritable Bowel Syndrome
Certain medications can cause serious side effects, so it's important to report them.
research Immune-mediated Coombs negative intravascular haemolysis in systemic lupus erythematosus (SLE)
A woman with lupus had blood cell destruction, treated successfully with medication.
research Fever and rash as initial signs of systemic autoimmune disease. Case Report.
Fever and rash can be early signs of lupus.
research Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report
VKHD can include rare oral symptoms like discolored teeth.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research 0196 Levamisole-induced pyoderma gangrenosum case report
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Monitoring of clinical signs in goats with transmissible spongiform encephalopathies
Goats with BSE or scrapie show varying symptoms, and using only clinical signs may not detect all scrapie cases.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research [A systemic lupus erythematosus patient with multiple aseptic bone necroses, thrombosis of superior mesenteric artery and anti-phospholipid antibody].
Anti-phospholipid antibodies in SLE can cause thrombosis and bone necrosis.
research P50 Difficult to diagnose SLE manifestations associated with cardiac arrest, myocarditis, chronic pericarditis, polyneuropathy
Accurate diagnosis of SLE requires extensive testing due to its complex symptoms.
research Ovarian SAHA syndrome is associated with a more insulin-resistant profile and represents an independent risk factor for glucose abnormalities in women with polycystic ovary syndrome: A prospective controlled study
Ovarian SAHA syndrome makes women with PCOS more resistant to insulin and increases their risk of blood sugar problems.
research ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research A rare primary subcutaneous panniculitis-like T-cell lymphoma with scalp involvement associated with lupus panniculitis
Repeated biopsies are crucial for managing lupus panniculitis when initial treatments fail.
research Multisystemic eosinophilic epitheliotropic disease in a horse
The horse had a rare disease causing weight loss and skin issues, leading to euthanasia due to poor treatment options.
research Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Cronkhite–Canada Syndrome Diagnosis in the Absence of Gastrointestinal Polyps
Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Graham-Little-Piccardi-Lassueur Syndrome: Two Case Reports and Review of the Literature
The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Clouston syndrome associated with eccrine syringofibroadenoma
Clouston Syndrome can be linked to rare sweat gland tumors.