research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
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research Cardiac biopsy in myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib
Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.
research Alopecia in Cronkhite-Canada syndrome
Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
research Cyclosporine-induced folliculodystrophy
Cyclosporine can cause a unique skin condition called "cyclosporine-induced folliculodystrophy."
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research 702 dsRNA induces ectopic KRT9 expression via WNT/β-catenin-mediated signaling
Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
research Pityriasis rubra pilaris: a rare inflammatory dermatosis
An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
research Nilotinib-Induced Keratosis Pilaris
Nilotinib can cause keratosis pilaris, a skin condition.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research KY19382 Accelerates Cutaneous Wound Healing via Activation of the Wnt/β-Catenin Signaling Pathway
KY19382 speeds up wound healing by activating a specific cell signaling pathway.
research Vogt-Koyanagi-Harada Disease in which Poliosis and Alopecia Occurred after a Long Period of Time.
A man with a rare disease experienced late hair whitening and loss, but hair color returned, suggesting a good outlook.
research K15 promoter-driven enforced expression of NKIRAS exhibits tumor suppressive activity against the development of DMBA/TPA-induced skin tumors
NKIRAS2 can suppress certain skin tumors but its effect on cancer varies with context and expression level.
research Unilateral keratosis pilaris atrophicans faciei mimicking follicular mucinosis
A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research 69-Year-Old Man With Dysuria and Right Lower Abdominal Pain
The man was diagnosed with stage III multiple myeloma and treated to improve kidney function.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Drug-induced postinfantile giant cell hepatitis
Certain liver diseases respond well to specific treatments and have varying risks for liver cancer.
research Skin signs of systemic diseases
Looking at skin can help find and treat serious diseases early.
research A case of primary cutaneous natural killer/T-cell lymphoma, nasal type, with indolent clinical course: monoclonal expansion of Epstein-Barr virus genome correlating with the terminal aggressive behaviour
The growth of the Epstein-Barr virus in the patient's cells was linked to the worsening of her lymphoma.