research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
Search
for
Sort by
Research
690-720 / 1000+ resultsresearch Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Melampus and the cure of Proetus’ daughters
Melampus might have cured Proetus' daughters, who possibly had ergotism or Cushing's syndrome, using the herb Helleborus niger, but a mix of factors could have caused their symptoms.
research Subacute cutaneous lupus erythematosus presenting as erythroderma
A woman with subacute cutaneous lupus erythematosus had widespread skin symptoms triggered by medication and sunlight, which improved with specific treatments.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research Valproate: It's effects on hair
Valproate can cause hair loss and changes in hair appearance, but may help regrow hair when applied topically.
research Positive Jacquet's sign in traction alopecia
Recognizing Jacquet's sign helps diagnose and treat traction alopecia accurately.
research Alopecia areata-like hair loss after a tick bite
research Reporting on Adverse Clinical Events
Some medications and supplements can cause serious side effects, including hair loss, heart rhythm problems, liver injury, and other health issues.
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 The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Macrophage activation syndrome in a patient with systemic lupus erythematosus
A patient with lupus experienced a condition where their immune cells became overactive.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research A University Center for the Performing Arts
Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
research Atypical Presentation of Systemic Lupus Erythematous with Vasculitic Polyneuropathy
A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
research Commonly prescribed medications associated with alopecia
Valproic acid, a common antiepileptic medication, can cause reversible hair loss in patients.
research Signal Mining for Non-Bleeding Adverse Event in Novel Oral Anticoagulants: A Pharmacovigilance Study Based on the FAERS Database
Different oral anticoagulants cause various non-bleeding side effects, so careful monitoring is needed.
research Lupus panniculitis of the scalp presenting with linear alopecia along the lines of Blaschko
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 [Nevus comedonicus. A rare skin disease of the hair follicles].
Nevus comedonicus is a rare skin condition causing dark bumps, treatable with retinoic acid or surgery.
research Fundus changes in systemic lupus erythematosus
Regular eye exams are important for detecting serious complications in lupus patients.
research Case report - hair tourniquet syndrome
Hair tourniquet syndrome can cause serious harm and may indicate child abuse.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Reversible severe myopathy during treatment with finasteride
research Reversible severe myopathy during treatment with finasteride
research Abstract 21: Preoperative Versus Postoperative Language Specialization in Infants with Sagittal Craniosynostosis: An ERP Study
Surgery may help infants with sagittal craniosynostosis develop more typical language processing.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.