research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
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210-240 / 1000+ results research Severe pityriasis rubra pilaris complicated with Kaposi's varicelliform eruption and cutaneous MRSA infection case report
Isotretinoin effectively improved severe pityriasis rubra pilaris with complications.
research APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up
JAK inhibitors may help improve symptoms in adults with APECED.
research Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
A patient with congenital erythropoietic porphyria showed eye issues due to porphyrin buildup.
research Primary Vitreoretinal Lymphoma Presenting Solely with Asymptomatic Peripheral Drusenoid Lesions
Older patients with new retinal lesions may have cancer, and local radiation might not stop it from spreading.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Polydeoxyribonucleotide as a Regenerative Agent in Dermatology and Wound Healing: Mechanisms, Clinical Applications, and Safety
PDRN is effective and safe for healing wounds and skin issues.
research Erosive pustular dermatosis of the scalp: A case report
Timely treatment of EPDS can reduce scarring.
research 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
research Self Prion Protein Peptides are Immunogenic in Lewis Rats
Rats can develop an immune response to prion protein peptides, but it may cause severe skin issues in older rats.
research Cirmcumscribed juvenile pityriasis rubra pilaris in a 5-year-old-girl treated with topical keratolytic and steroid
A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
research Successful management of multiple extrapulmonary complications associated withRhodococcus equipneumonia in a foal
A sick foal with Rhodococcus equi pneumonia was successfully treated for multiple complications with targeted therapy and careful monitoring.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1 ‐mediated P53 ubiquitination
Gorab deficiency speeds up skin aging by disrupting protein regulation and reducing collagen.
research A Case of Pityriasis Rubra Pilaris Associated with Myasthenia Gravis
Pityriasis rubra pilaris can occur with myasthenia gravis.
research Umbilical remnant allograft application in the treatment of erosive pustular dermatosis of the scalp
Using powdered umbilical remnant allograft can effectively treat chronic scalp wounds resistant to traditional treatments.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research 1446 RNase L acts as a regeneration suppressor
RNase L suppresses regeneration in mammals.
research A Case of Rhupus with Rowell Syndrome
A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Erosive Pustular Dermatosis: Delving into Etiopathogenesis and Management
Topical corticosteroids are the main treatment for Erosive Pustular Dermatosis, but recurrence is common after stopping treatment.
research Generating mouse models of degenerative diseases using Cre/lox-mediated in vivo mosaic cell ablation
The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
research Dermatitis cruris pustulosa et atrophicans
DCPA is a chronic skin condition affecting the lower limbs, mainly in men, with unclear causes and treatments that often don't work well.
research Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene
An adult with a rare skin condition improved with tazarotene treatment.
research A Male with an Erythema, Pustules, and Crusts on the Scalp
A rare scalp condition was successfully treated with specific medications after 9 months.
research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11
research Epidermal Stem Cells do not Communicate Through Gap Junctions
Epidermal stem cells don't use gap junctions to communicate.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research Molecular cloning of two novel types of peptidylarginine deiminase cDNAs from retinoic acid‐treated culture of a newborn rat keratinocyte cell line
Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.