research 062 A case of autoimmune facial swelling, weakness and sensorineuropathy with lower limb myositis
The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
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research Structures of three polycystic kidney disease-like domains fromClostridium histolyticumcollagenases ColG and ColH
The study concludes that certain domains in Clostridium histolyticum enzymes are structurally unique, bind calcium to become more stable, and play distinct roles in breaking down collagen, with potential applications in medicine and drug delivery.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Alopecia universalis with IL-12-RB1 and STAT4 mutations effectively treated with upadacitinib
Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
research CS12192 Reverses Alopecia Areata by Selectively Targeting JAK3/JAK1/TBK1.
CS12192 effectively treats alopecia areata with better safety than current options.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research Janus kinase inhibition for the treatment of refractory frontal fibrosing alopecia: A case series and review of the literature
JAK inhibitors, like ruxolitinib, may effectively treat frontal fibrosing alopecia.
research Severe metabolic disorders coexisting with Werner syndrome: a case report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report
VKHD can include rare oral symptoms like discolored teeth.
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 Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research A Signal Based on Spontaneous Reports of Convulsions in Association with Finasteride
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Central Centrifugal Cicatricial Alopecia in Males: Analysis of Time to Diagnosis and Disease Severity
Men with CCCA often face delayed diagnosis and severe hair loss, highlighting the need for earlier recognition and treatment.
research Post-marketing safety signals of four JAK inhibitors for alopecia areata: an indication-restricted FAERS pharmacovigilance study
JAK inhibitors for alopecia areata have different safety risks, requiring specific monitoring for each drug.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Atypical pediatric presentation of alopecic and aseptic nodules of the scalp with features of dissecting cellulitis
A 9-year-old boy had a rare scalp condition usually seen in young men.
research Central Centrifugal Cicatricial Alopecia (CCCA)
CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Cutaneous epitheliotropic T‐cell lymphoma in a sugar glider (Petaurus breviceps)
A sugar glider had a rare skin cancer that worsened despite treatment, highlighting the need for thorough checks in exotic pets.
research The Use of Janus Kinase Inhibitors for Primary Neutrophilic Cicatricial Alopecias
Janus kinase inhibitors may effectively treat resistant scalp conditions like folliculitis decalvans and dissecting cellulitis.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Alopecia areata in a rhesus monkey (Macaca mulatta)
The monkey's hair loss was due to an autoimmune disease, not genetics.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Distinctive histopathologic findings in linear morphea (en coup de sabre) alopecia
The study found unique skin changes in a rare type of alopecia linked to a skin condition called linear morphea.
research Protein Kinase C Downregulation upon Rapamycin Treatment Attenuates Neuroinflammation and Mitochondrial Disease
Rapamycin treatment helps reduce brain inflammation and symptoms of mitochondrial disease by blocking specific pathways in mice.
research Rapidly progressive diffuse fibrosing alopecia
These hair loss conditions might be part of a spectrum, not separate issues.