research VITAMIN D RESISTANT RICKETS WITH ALOPECIA: A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN D
A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
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480-510 / 1000+ results research Twenty‐nail dystrophy and alopecia areata in an adult male with thymoma‐associated myasthenia gravis: A case report
Thymoma may link myasthenia gravis, nail dystrophy, and alopecia areata.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Hepatic and dermatologic manifestations of chronic hypervitaminosis A in adults. Report of two cases
Too much vitamin A can cause liver damage and skin issues.
research Acrodermatitis Enteropathica in an adult: a case report
Zinc supplements and diet changes can effectively treat zinc deficiency and prevent complications.
research Relationship between Amino Acid Intake and Accretion in a Marsupial, Macropus Eugenii
Amino acid levels in milk increase with protein and align with key growth stages in Macropus eugenii.
research Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
Consider rare forms of CAH for accurate diagnosis and treatment.
research Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin
Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
research Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.
research Cutaneous Mastocytosis Associated With Congenital Alopecia
A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
research “Peeling paint” dermatosis in a leukemia patient
A leukemia patient showed skin peeling similar to kwashiorkor, a severe protein deficiency.
research Dermal Mucinosis in the Eosinophilia-Myalgia Syndrome
A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
research Retiform Purpura Caused by the Use of Cocaine, That Was Probably Adulterated with Levamisole
Cocaine possibly mixed with levamisole caused a woman's skin condition and blood issues, which improved with treatment.
research Alopecia Mucinosa
Alopecia mucinosa is a challenging condition with unclear diagnosis and treatment.
research Maternal nutrition at conception modulates DNA methylation of human metastable epialleles
A mother's diet at conception can cause lasting genetic changes in her child.
research A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)
A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
research Folliculotropic CD8+ mycosis fungoides associated with diffuse mucosal involvement
A rare type of skin cancer with mucosal involvement was partially treated but eventually relapsed.
research Nail Hyperpigmentation Following Valproic Acid Use: A Rare Case Report
Valproic acid can rarely cause reversible nail discoloration.
research P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
research Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
A new syndrome may link skin, growth, mental, and hair issues.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Anagen effluvium due to azathioprine in a patient with normal thiopurine S-methyltransferase levels: A videodermoscopic analysis
A woman's sudden hair loss was linked to azathioprine use despite normal enzyme levels, and improved after stopping the drug and starting treatment.
research Collodion baby to bathing suit ichthyosis: A 6-year follow-up
A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
research The expression of the gene asebia in the laboratory mouse: 3. Sebaceous glands
Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
research P14 Mycophenolate mofetil in patients with autoimmune hepatitis intolerant to azathioprine
Mycophenolate mofetil is a good alternative for autoimmune hepatitis patients who can't tolerate azathioprine.
research Case of Cronkhite Canada Syndrome - A Non-Inherited Gastrointestinal Polyposis Syndrome
A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
research A RARE CASE OF VITAMIN D DEPENDENT RICKETS TYPE-2A PRESENTED AS ALOPECIA TOTALIS
Vitamin D Dependent Rickets Type-2A can cause complete hair loss and bone growth issues in infants.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.