research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
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research Solitary Basaloid Follicular Hamartoma: A Report of Two Cases.
Basaloid follicular hamartoma is a rare, benign skin growth often misdiagnosed.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
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 Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Secreted subtilisin Sub3 from Microsporum canis is required for adherence to but not for invasion of the epidermis
Sub3 is essential for fungus adherence but not for skin invasion.
research Faculty Opinions recommendation of Identification of drug-specific public TCR driving severe cutaneous adverse reactions.
Researchers found a specific T cell receptor linked to severe drug reactions like Stevens-Johnson syndrome when patients take carbamazepine.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research Congress abstracts SPEDM
The Bethesda system is effective for identifying thyroid cancer but has low sensitivity.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research A Study of the Expression of Small Conductance Calcium-Activated Potassium Channels (SK1-3) in Sensory Endings of Muscle Spindles and Lanceolate Endings of Hair Follicles in the Rat
SK2 channels help control sensory signals in rat muscle spindles and hair follicles.
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
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 The mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8)
The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
research 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa
Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.
A genetic hair protein variant is more common in Japanese people and is inherited.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Quality of Life with Alopecia Areata versus Androgenetic Alopecia Assessed Using Hair Specific Skindex-29
Alopecia areata and androgenetic alopecia affect quality of life similarly.
research Gender-specific risk factors for androgenetic alopecia in the Korean general population: Associations with medical comorbidities and general health behaviors
AGA risk factors include age, smoking, hypertension for men, and age, dyslipidemia for women; lifestyle changes may help prevention.
research Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research Clinical experience on follicular unit extraction megasession for severe androgenetic alopecia
FUE megasession effectively treats severe hair loss with natural-looking results in one operation.
research Effect of Behavioral Factors on Severity of Female Pattern Hair Loss: An Ordinal Logistic Regression Analysis
Avoid alcohol, ponytails, and oily scalp, and get good sleep to prevent severe hair loss.
research A semiquantitative grading scale for frontal and vertex of androgenetic alopecia
New grading scale accurately measures hair loss severity and treatment effectiveness.
research Asymmetry of the Receding Hairline in Men With Early Androgenetic Alopecia
Receding hairlines in men are uneven, with the right side larger than the left.
research Iatrogenic androgenetic alopecia in a male phenotype 46XX true hermaphrodite
Hormone treatment caused hair loss, finasteride helped regrowth.
research Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.