research SnapshotDx Quiz: May 2020
BIVV009 is a safe treatment for bullous pemphigoid that reduces C3 deposition without harmful side effects.
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60-90 / 1000+ resultsresearch A boggy swelling of the scalp
A rare calcium deposit condition was found on a man's scalp.
research Combined C3b and Factor B Autoantibodies and MPGN Type II
The FDA did not approve certain drugs for prostate cancer prevention due to concerns about their effectiveness and potential risks.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Immunologic findings in central centrifugal cicatricial alopecia
CCCA may be caused by both hair traction and an immune response.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research A Woman With Nodules and Depressed Scars
The woman has a skin condition involving nodules, scars, and hair loss.
research Lichen simplex chronicus positive for C5b-9/MAC, IgD and C3c as a result of recurrent bacterial hair follicular unit infection
Chronic bacterial infections of hair follicles can cause ongoing skin inflammation.
research 1619 Spatial transcriptomic analysis of imiquimod-treated mouse skin reveals deregulation of lipid raft-associated markers which could be reversed by re-introduction of caveolin scaffolding domain peptide
The research found that a protein called caveolin-1 is reduced in psoriasis, but reintroducing it can help alleviate some psoriasis symptoms.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Keratinic amyloid deposition in canine hair follicle tumors
Some canine hair follicle tumors contain amyloid deposits, with a protein called CK5 involved in their formation.
research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research 1348 Involvement of mast cells and CB1 in the pathogenesis of IgA vasculitis
Mast cells and the CB1 receptor may be key in causing IgA vasculitis.
research Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research Cutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke
Recognizing CVG can help diagnose systemic amyloidosis early.
research CD123 immunohistochemistry for plasmacytoid dendritic cells is useful in the diagnosis of scarring alopecia
Using CD123 to detect certain immune cells helps diagnose a type of hair loss condition.
research Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings
Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
research IMAGING INSIGHTS INTO JC VIRUS-ASSOCIATED PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY IN NEUROPSYCHIATRIC LUPUS: A CASE REPORT
Careful monitoring is crucial to prevent JC virus reactivation in lupus patients treated with rituximab.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research Electron microscopic and autoradiographic study of S35-L-cystine incorporation in mouse hair follicles
Mice hair follicles take in the amino acid cystine.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
Intralesional cidofovir may be a viable alternative treatment for SCC.
research SnapshotDx Quiz: April 2022
Discoid Lupus Erythematosus causes scalp plaques that can lead to hair loss, and antimalarial drugs are effective treatments.
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 ECULIZUMAB IN THE MANAGEMENT OF CATASTROPHIC ANTIPHOSPHOLIPID SYNDROME WITH MULTIORGAN INVOLVEMENT: A CASE REPORT
Early diagnosis and treatment are crucial for CAPS, and Eculizumab can be effective.
research Central Centrifugal Cicatricial Alopecia Associated With PDL1 Loss and Increased Expression of Caspase 3: A Case Series
CCCA may involve the PD1/PDL1 pathway and increased caspase 3, leading to permanent hair loss.
research Recurrent inverse necrotizing infundibular crystalline folliculitis
Recurrent NICF is a rare skin condition with unclear causes, involving follicle inflammation and crystal deposits.
research Premature Desquamation of the Inner Root Sheath in Noninflamed Hair Follicles as a Specific Marker for Central Centrifugal Cicatricial Alopecia
Early shedding of the inner root sheath in noninflamed hair follicles is a relatively specific sign of Central Centrifugal Cicatricial Alopecia.
research Necrobiosis Lipoidica
Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.