research Scattered Skin Eruptions in a Patient With Inflammatory Bowel Disease
A woman with inflammatory bowel disease improved after treatment with ustekinumab for a rare skin condition associated with her disease.
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420-450 / 1000+ results research Involvement of Weibel-Palade bodies in Kaposiform haemangioendothelioma
Combining hair transplantation with PRP is more effective for treating hair loss than hair transplantation alone.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Persistent scurvy after vitamin C supplementation in a high-risk patient: a case report
Vitamin C deficiency can persist in high-risk patients despite supplementation.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Kerion: an unusual presentation in the otolaryngology department
A fungal infection in the neck caused severe breathing issues, treated successfully with antibiotics and antifungal medication.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Spiny Hyperkeratotic Projections on the Face and Extremities of a Kidney Transplant Recipient—Quiz Case
A kidney transplant patient developed pink skin bumps with spiny centers on her face and limbs.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research Clinical and histopathologic features of hair loss in patients with HIV-1 infection
People with late-stage HIV-1 often experience a specific type of hair loss linked to multiple factors, including nutritional issues and immune responses.
research Cutaneous signals of immune system disease
Skin issues can indicate immune system problems.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research Graft-versus-host reaction. Cutaneous manifestations following bone marrow transplantation.
Skin changes help detect graft-versus-host reaction early after bone marrow transplants.
research Renal tubular dysfunction presenting as recurrent hypokalemic periodic quadriparesis in systemic lupus erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Immunodeficiency Disorders
People with primary immunodeficiencies often have frequent, severe, or unusual infections and may need special tests and management strategies.
research Acute fish liver intoxication: report of three cases.
Eating grouper fish liver can cause vitamin A poisoning with severe symptoms.
research Novel associations of VPS13C with phenotype and conversion of idiopathic REM sleep behavior disorder
VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
research R hodococcus equi: Clinical Manifestations, Virulence, and Immunity
Rhodococcus equi causes severe pneumonia in young foals, and effective vaccines are needed due to foals' weak immune responses.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research Dermatological manifestations associated with COVID‐19 and COVID‐19 vaccination: results from the Lebanese COVID registry
COVID-19 and its vaccines can cause various skin issues, with urticaria being the most common.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Baricitinib-Induced Remission of Alopecia Universalis in a Child with NFKB2-Associated Immune Dysregulation
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Natural Killer Group 2 Type D (NKG2D) Gene Polymorphism in Systemic Lupus Erythematosus-Suez Canal Region - Egypt
NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.
research Kerion caused by Trichophyton tonsurans in an infant
A baby girl's severe scalp infection caused by a fungus was cured with oral and topical antifungal medications.
research Leukokoria sebagai Tanda Peringatan Penyakit Coats dan Gangguan Retina Lainnya
Leukokoria can signal Coats disease or other retinal issues, requiring early detection to prevent severe outcomes.
research Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum
Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.