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.
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600-630 / 1000+ resultsresearch Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses
Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.
research Sindrom Fahr: Kalsifikasi Intraserebral Patologis
Fahr syndrome causes brain calcification and is managed by treating symptoms and underlying issues.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research DP10 Scalp disease in dermatomyositis
Scalp disease in dermatomyositis causes significant symptoms and has unique features.
research Coexistence of dermatomyositis and alopecia areata: Insight into pathogenesis
DM and AA may share a common cause.
research Pili annulati with fragility: Electron microscopic findings of a case
The study found that hair fragility in Pili annulati may be caused by cavities and damage within the hair shafts.
research Epidermal Nevi
Epidermal nevi are skin cell clusters linked to various syndromes.
research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
research Madarosis: A dermatological marker
research Edematous striae distensae
The girl's swelling and skin issues improved with fluid restriction and diuretics.
research A Case of Generalized Hair Follicle Hamartoma Associated with Systemic Lupus Erythematosus
Generalized hair follicle hamartoma can occur with systemic lupus erythematosus.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Loose Anagen Hair Syndrome in an Indian Child with Trichoscopic Features
Loose anagen hair syndrome in children often resolves on its own.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research 489 Seborrhea-like dermatitis phenotype in the Mpzl3 knockout mice
MPZL3 is crucial for seborrheic dermatitis development.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research The SAHA Syndrome
SAHA syndrome is a condition in women involving skin and hair issues, often related to hormonal imbalances, and is treated based on the underlying cause.
research British Society for Dermatopathology
Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Dermatological findings in common rheumatologic diseases in children
Children with different rheumatologic diseases have specific skin symptoms that can help with diagnosis.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns].
Antifungal treatment can improve severe skin infections with cutaneous horns.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.