research Autoimmune Liver Disease In Children
Autoimmune hepatitis in children often affects girls and can be treated successfully with medication.
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930-960 / 1000+ results research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.
A genetic hair protein variant is more common in Japanese people and is inherited.
research Acanthosis Nigricans during an HAIR-AN syndrome: "The Tree That Hides the Forest"
The case shows skin changes can indicate deeper health issues like insulin resistance, which are challenging to manage.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
Intralesional cidofovir may be a viable alternative treatment for SCC.
research Ichthyosis in Unani Medicine: A Comprehensive Review of Disorders of Cornification and their Modern Dermatological Correlates
Unani medicine and modern dermatology both offer treatments for ichthyosis, a condition causing dry, scaly skin.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research ASSOCIATION OF SYSTEMIC LUPUS ERYTHEMATOSUS AND CHRONIC GRANULOMATOUS DISEASE IN ADULTS: REPORT OF 2 CASES
Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
research Acute parenchymal lung involvement in a 68-year-old woman with systemic lupus erythematosus, anemia, and thrombocytopenia
A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
research Acne induced by 'Sus' and 'Deca'
Using anabolic steroids 'Sus' and 'Deca' for bodybuilding caused severe acne in a man.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Ulerythema Ophryogenes
Treatment with vitamin A did not improve the child's skin condition.
research Axitinib-induced repigmentation of grey hair in a patient with metastatic renal cell carcinoma
Axitinib treatment turned a man's grey hair back to black.
research Unexpected Hair Regrowth in a Patient with Longstanding Alopecia Universalis During Treatment of Recalcitrant Dermatomyositis with the Janus Kinase Inhibitor Ruxolitinib
Ruxolitinib treatment led to unexpected hair regrowth in a patient with alopecia universalis.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Keratosis pilaris with adjacent haemosiderin deposition: a clue to scurvy
A man's skin condition and poor diet led to a scurvy diagnosis.
research Pincer Nails – A Rare Manifestation of Systemic Lupus Erythematosus
Pincer nails are rare in lupus patients and may be managed conservatively.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research The Influence of Portocaval Shunting on Inner Ear Structures
PCS rats show significant inner ear damage and zinc deficiency, similar to liver cirrhosis patients.
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 A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Edematous striae distensae
The girl's swelling and skin issues improved with fluid restriction and diuretics.
research Investigation of plasma thiol/disulfide balance in male patients with androgenetic alopecia
Thiol/disulfide balance is normal in male AGA patients but shifts towards oxidative stress with emotional stress and low vitamin D.
research Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1 ‐deficient Jack Russell Terriers and response to topical ceramide
Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Type 3 autoimmune polyendocrine syndrome (APS) diagnosed in an 87-year-old patient with a concomitant chronic autoimmune urticaria
An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Evaluation of Serum Irisin and Its Relation to Insulin Resistance in Patients with Androgenetic Alopecia
Lower serum irisin levels are linked to androgenetic alopecia but not to insulin resistance.
research Ranitidine and finasteride inhibit the synthesis and release of trimethylamine N-oxide and mitigates its cardiovascular and renal damage through modulating gut microbiota
Ranitidine and finasteride lower TMAO levels, reducing heart and kidney damage by changing gut bacteria.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.