research Acquired epidermodysplasia verruciformis in a heart transplant patient
A heart transplant patient developed a skin condition called epidermodysplasia verruciformis after taking immune-suppressing drugs.
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120-150 / 1000+ results research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report
VKHD can include rare oral symptoms like discolored teeth.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research An eruption of numerous spiny papules in a pediatric transplant patient
Early recognition and treatment of VATS in transplant patients improve outcomes.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Acquired ocular toxoplasmosis in pregnancy
Surgical excision is the best treatment for SCC, but intralesional cidofovir might be a good alternative.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Recovery of Scleroderma-Induced Atrophic Alopecia by Autologous Fat Transplantation
Fat transplantation can help regrow hair lost due to scleroderma.
research First use of cord blood platelet-rich plasma in the treatment of vulvar lichen sclerosus: a preliminary study towards a randomized controlled trial.
Cord blood platelet-rich plasma may safely improve vulvar lichen sclerosus symptoms.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research SHOIR VA DRAMATURG
research Black Hairy Tongue After Allogeneic Stem Cell Transplantation: An Unrecognized Cutaneous Presentation of Graft-Versus-Host Disease
Black hairy tongue can be an early sign of graft-versus-host disease after stem cell transplants.
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 Confocal Laser Scanning Microscopy as a Tool for the Investigation of Skin Drug Delivery Systems and Diagnosis of Skin Disorders
Confocal Laser Scanning Microscopy (CLSM) is a useful tool for studying how drugs interact with skin and diagnosing skin disorders, despite some limitations.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
research 1397 LSD1 is critical for epidermal development and skin barrier formation
LSD1 is essential for healthy skin development and creating the skin's protective barrier.
research Incomplete Sjögren-Larsson Syndrome in Two Japanese Siblings?
research Trichodysplasia Spinulosa: Rare Presentation of Polyomavirus Infection in Immunocompromised Patients
Antiviral medication valganciclovir may improve skin and hair in Trichodysplasia Spinulosa patients.
research VAGINAL KERATINIZATION IN VITRO*
research Vice president's message
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research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Clinical case of Vogt–Koyanagi–Harada syndrome
Early treatment with corticosteroids improved her eye condition significantly.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Tangent screens are still useful in the assessment of vigabatrin induced visual field defects
Tangent screens help detect visual field defects from vigabatrin.