research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
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480-510 / 1000+ results research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Non-classic congenital adrenal hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Age-dependent measurements of amino acids in human hairs — a longitudinal study
research A Very Unusual Cause of Diarrhea in a 60-Year-Old Man
The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
research Coexistence of dermatomyositis and alopecia areata: Insight into pathogenesis
DM and AA may share a common cause.
research [Visual field defect in a patient given sodium valporate then carbamazepine: possible effect of aminotransferase inhibition].
Anti-epileptic drugs may cause visual and hair side effects due to enzyme inhibition, especially in genetically predisposed individuals.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Autoimmune Liver Disease In Children
Autoimmune hepatitis in children often affects girls and can be treated successfully with medication.
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 Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
research Some Clues and Pitfalls in the Diagnosis of Acromegaly
Acromegaly can be hard to diagnose in young women with atypical symptoms, and persistent high phosphate levels should lead to growth hormone testing.
research Localised Skin Hyperpigmentation as a Presenting Symptom of Vitamin B12 Deficiency Complicating Chronic Atrophic Gastritis
Vitamin B12 deficiency can cause skin darkening and other symptoms, which improve with B12 supplements.
research Azathioprine‐induced severe myelosuppression accompanied by massive hair loss and painful oral ulcer in an autoimmune hepatitis patient with NUDT15 minor variant: A case report
Genetic testing is crucial before giving azathioprine to avoid severe side effects.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Amyloid associated alopecia: A case report and review of the literature
Amyloid proteins can cause rare hair loss by depositing in the scalp.
research METABOLIC SYNDROME IN PATIENTS WITH ANDROGENETIC ALOPECIA IN A TERTIARY CARE HOSPITAL
Early screening for Metabolic Syndrome in hair loss patients can help prevent heart disease.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research Studies on Reaction of Mimosine with Various Amines and Effects of Mimosine on Tyrosine Decarboxylation
Mimosine is toxic to animals, causing hair loss, infertility, and growth issues, but its exact harmful mechanism is unclear.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research Lack of classic histology should not prevent diagnosis of necrolytic acral erythema
Consider necrolytic acral erythema in similar cases and treat with oral zinc sulfate.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Immunological Profile of Patients Presenting Down Syndrome and Alopecia Areata
Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.
research Hypothalamic lipid metabolism and the control of food intake
The VMH AMPK-SNS-BAT axis may help treat cachexia and obesity.
research Giant Axonal Degeneration: Scanning Electron Microscopic and Biochemical Study of Scalp Hair
The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Management of “hyperandrogenism” confounded by dermatology biotin prescriptions
Biotin can interfere with lab tests, causing misdiagnosis.