research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
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570-600 / 1000+ resultsresearch Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Bilateral facial nerve palsy associated with p-ANCA positive vasculitis in a patient with rheumatoid arthritis
research Keratin Biomaterials Activate Schwann Cells via Integrin‐Mediated Signaling and Promote Regeneration of Large Peripheral Nerve Defects in a Rabbit Model
Keratin biomaterials from human hair help nerve regeneration by activating Schwann cells.
research Morphological and morphometric study of the androgenetic alopecic scalp using two- and three-dimensional analysis comparing regional differences
The study found that balding scalps have more thin hairs and larger oil glands, which might contribute to skin conditions related to hair loss.
research UVEITIS WITH POLIOSIS, VITILIGO, ALOPECIA AND DYSACOUSIA (VOGT-KOYANAGI SYNDROME)
Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
research Circulation, sensation, and hair growth: A reply
The document suggests that nerve issues might contribute to hair loss and that testing sensation could predict these nerve problems.
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.
research New plaque protein identified in brains of people with Alzheimer's disease
Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
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 P447: Late onset biotinidase deficiency misdiagnosed as neuromyelitis optica: A case report and review of diagnostic challenges
Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research Granulomatous alopecia areata is a valid but rare histologic subset of a common disease
Granulomatous alopecia areata is a rare but real form of hair loss.
research Stroke Recovery
Transplanted human Olig2+ astroglia may help improve learning and memory after a stroke.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research Alopecia areata incognita: a comment
The author clarified that Alopecia Areata Incognita (AAI) and diffuse Alopecia Areata (AA) are different conditions and the case discussed was actually AA, not AAI.
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 865 Single-cell protein activity inference analysis of full-thickness skin uncovers novel pathways and a rare Arg1+ macrophage population in AA
Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.
research 0977 Pathogenic hallmarks of primary lymphocyte-mediated scarring alopecia revealed by single nuclear and spatial multiomics
Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
research Twenty‐nail dystrophy and alopecia areata in an adult male with thymoma‐associated myasthenia gravis: A case report
Thymoma may link myasthenia gravis, nail dystrophy, and alopecia areata.
research Dermal lymphatic dilation in a mouse model of alopecia areata
Mice with alopecia areata had wider lymphatic vessels in their skin.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research A new familial presentation of dissecting cellulitis: The genetic implications on scarring alopecias
Dissecting cellulitis may have genetic links and can cause permanent hair loss.
research Two mouse mutations mapped to chromosome 11 with differing morphologies but similar progressive inflammatory alopecia
Two mouse mutations cause similar hair loss despite different skin changes.
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 Central centrifugal cicatricial alopecia amalgamated with alopecia areata: immunologic findings
The patient with both scarring and non-scarring hair loss showed complex immune reactions and improved with steroid treatment.
research Gloriosa superba Poisoning-induced Anagen Effluvium
Gloriosa superba poisoning can cause sudden hair loss, but hair usually regrows fully.
research BH10 Nailing the diagnosis
Consider amyloidosis in patients with specific nail changes and check for systemic issues.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.