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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research A Rare Case of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown.
A boy with a rare skin condition improved quickly after starting zinc supplements.
research Cell Type-specific Functions of the Lysosomal Protease Cathepsin L in the Heart
Cathepsin L is essential for heart health and its absence causes heart problems and hair loss.
research Semaglutide-associated worsening of atypical anorexia nervosa in an adolescent girl: case report
Semaglutide may worsen eating disorders in vulnerable individuals.
research OPIS PRZYPADKU RZADKIEGO SAMOTNEGO WŁÓKNISTEGO GUZA KOŚCI KRZYŻOWEJ
Pre-surgical embolization and a two-stage resection improve outcomes for rare sacral tumors.
research Symptomatic hypercalcemia and scarring alopecia as presenting features of sarcoidosis
Sarcoidosis can cause severe high calcium levels, hair loss, and kidney failure.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Cutaneous lupus erythematosus. Diagnostic and therapeutic recommendations of the Polish Dermatological Society
The Polish Dermatological Society recommends personalized treatment for cutaneous lupus, including lifestyle changes, medications, and monitoring, with specific drugs for severe cases.
research Case number 19th of perforating necrobiosislipoidica worldwide
The document reports the first case of a rare skin condition in Colombia, the 19th case worldwide.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Systemic lupus erythematosus presenting with homonymous hemianopia
Lupus can cause unusual vision problems, so it's important to consider it in such cases.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research P730 High-dosed intravenous iron replacement therapy does not hinder drug-induced amelioration of disease activity in IBD patients with iron deficiency anaemia
High-dose intravenous iron therapy doesn't interfere with treatment improvements in IBD patients with iron deficiency anemia.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research A New Immune-Biochemical Study To Identify Indicators Of The Response Of Infertile Polycystic Ovary Syndrome Patients To Metformin Treatment
CLEC10A and interleukin-42 can help identify PCOS patients' response to Metformin treatment.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
research Efficacy of mesalazine in children with moderate to severe alopecia areata: case series of 18 patients
Mesalazine showed limited effectiveness in treating children with severe alopecia areata.
research Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
research Flightless I exacerbation of inflammatory responses contributes to increased colonic damage in a mouse model of dextran sulphate sodium-induced ulcerative colitis
High levels of the protein Flightless I worsen ulcerative colitis symptoms in mice.
research Diffuse congenital hypotrichosis simplex with associated hair shaft fragility
The document's conclusion cannot be provided because the document is not available or cannot be understood.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II
Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
research Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
A new syndrome may link skin, growth, mental, and hair issues.
research 666 Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in follicular dystrophy and primary cicatricial alopecia
Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
research Primary cicatricial alopecia and inflammatory bowel disease – is there a link?
Some people with primary cicatricial alopecia also have inflammatory bowel disease, suggesting a possible connection.
research Two siblings with vitamin-D-dependent rickets type II: No recurrence of rickets for 14 years after cessation of therapy
Two siblings stayed rickets-free for 14 years after stopping treatment.
research Selenium status in Sudanese children with protein-calorie malnutrition.
Sudanese children with severe malnutrition have low selenium levels, which may affect their recovery.