research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
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research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research Erosive pustular dermatosis and associated alopecia successfully treated with topical tacrolimus
Topical tacrolimus can effectively treat erosive pustular dermatosis and related hair loss.
research Dominant dystrophic epidermolysis bullosa: Seven familial cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
research E58 The rheumatologic masquerader: a case report on SLE-dermatomyositis-systemic scleroderma overlap syndrome
Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
research The Case Files
The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
research Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report
A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Granular Parakeratosis of the Eccrine Ostium: A Case Report
Accurate diagnosis of granular parakeratosis is crucial for effective treatment and improvement.
research REV7: a small but mighty regulator of genome maintenance and cancer development
REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Retinoic Acid and Mouse Skin Morphogenesis. II. Role of Epidermal Competence in Hair Glandular Metaplasia
Retinoic acid causes gland formation instead of hair in mouse skin by altering epidermal and dermal interactions.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research [Striatal involvement on MRI in adrenomyeloneuropathy].
MRI can show unusual brain changes in adrenomyeloneuropathy.
research Alopecia in three women of southeast asian descent with chronic renal failure: Possible association with erythropoietin use
Hair loss in three Southeast Asian women with kidney failure may be linked to their anemia treatment with erythropoietin.
research Case number 19th of perforating necrobiosis lipoidica worldwide
The document reports the 19th global case of a rare skin condition in a patient from Colombia.
research Manifest hair repigmentation associated with etretinate therapy
An 82-year-old man's white hair regained color after taking etretinate for psoriasis.
research Ectodysplasin research—Where to next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research Post-steroid panniculitis: a lost and forgotten entity?
Post-steroid panniculitis is now rare because doctors taper steroids more carefully.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
research XEDAR activates the non-canonical NF-κB pathway
XEDAR triggers a specific signaling pathway in cells.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Cyclophosphamide and rituximab in frequently relapsing/steroid-dependent nephrotic syndrome
Rituximab leads to longer remission and fewer side effects than cyclophosphamide.
research Autologous Platelet and Extracellular Vesicle-Rich Plasma as Therapeutic Fluid: A Review
Autologous Platelet and Extracellular Vesicle-Rich Plasma (PVRP) has potential in enhancing tissue regeneration and improving hair conditions, but its effectiveness varies due to individual differences.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Genetics of Progeria and Aging
Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
research Platelet-Rich Plasma Resultant Cutaneous Nodules on Scalp
PRP injections for hair loss may cause scalp nodules that can persist but often regress on their own.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.