research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
Search
for
Sort by
Research
570-600 / 1000+ resultsresearch Hypopigmented thin scalp hairs association with iron deficiency: report of 2 cases.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Biotin deficiency in an infant fed with amino acid formula and hypoallergenic rice
Biotin should be added to Japanese amino acid formula to prevent deficiency.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research Drug-induced postinfantile giant cell hepatitis
Certain liver diseases respond well to specific treatments and have varying risks for liver cancer.
research 12-O-Tetradecanoylphorbol-13-acetate Induces Apoptosis in Renal Epithelial Cells through a Growth Signal Conflict Which Is Prevented by Activated ras1
Activated ras can protect kidney cells from a certain substance that causes cell death.
research Ovarian Hyperthecosis Presenting as Polycythemia
Ovarian hyperthecosis can cause polycythemia, and surgery can normalize symptoms.
research Hypothalamic hamartoma with pubertas precox and gelastic seizure in a boy (Case Report)
A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
research Ritlecitinib Efficacy in Adolescents With Alopecia Areata: A Real‐World Experience
Ritlecitinib shows promise in improving hair regrowth in adolescents with alopecia areata.
research Lipoatrophy and severe metabolic disturbance in mice with fat-specific deletion of PPARγ
Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research A 12‐year‐old boy with petechiae, arthralgias, and muscle weakness
The boy's scurvy symptoms improved with vitamin C treatment, highlighting the need for a balanced diet.
research Increased PHGDH expression uncouples hair follicle cycle progression and promotes inappropriate melanin accumulation
Increased PHGDH expression causes early melanin buildup in hair follicles.
research Nutritional Dermatoses in Rats
Nutritional deficiencies in rats cause skin problems that can be treated with the right vitamins.
research The biphasic regulatory effect of diphencyprone on mouse hair growth and its relation to protein kinase C isoforms
Diphencyprone initially increases mouse hair growth, then slows it, possibly due to changes in specific protein levels.
research Rapid hair depigmentation in patient treated with pazopanib
Pazopanib treatment caused rapid hair color loss, possibly indicating its effectiveness.
research Functional analysis of vitamin D receptor (VDR) using adenovirus vector
The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
research Hypothyroidism, eyelash loss
Eyelash loss can be a sign of thyroid problems.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice
A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
research Serum 1, 25-dihydroxy vitamin D- vitamin D3- among obese Egyptian women with polycystic ovary syndrome
Obese women with PCOS have lower vitamin D levels.
research Isolated Actinic Prurigo Cheilitis in an Elderly Thai Female: An Atypical Presentation
Actinic prurigo cheilitis can occur in elderly Asians and can be treated with hydrocortisone cream and sun protection.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.