research A Case of Frontal Fibrosing Alopecia in a Patient with Primary Biliary Cirrhosis and Polymyalgia Rheumatica
Frontal fibrosing alopecia might be linked to autoimmune diseases.
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750-780 / 1000+ resultsresearch 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 Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Scarring alopecia and scalp pruritus
The text talks about a rare skin condition causing hair loss and suggests that people with this should also check their lung and heart health.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Transudation of phVEGF165 into sclerotic skin to promote hair growth and regeneration in mice
VEGF can boost hair growth in mice with scleroderma.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research A Case of Rhupus with Rowell Syndrome
A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
research D ERMATOLOGICAL MANIFESTATIONS - ARE THEY SPECIFIC MARKERS FOR SYSTEMIC INVOLVEMENT IN SLE ?
Certain skin symptoms can help detect and manage systemic lupus.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Genome-wide association study of skin complex diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Keratosis pilaris with adjacent haemosiderin deposition: a clue to scurvy
A man's skin condition and poor diet led to a scurvy diagnosis.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
research 237 Unveiling Skin Cancers Pathophysiology via the Modeling of Xeroderma Pigmentosum Disease Modeling Using CRISPR-Cas9 Technology
Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
research Delayed treatment leading to multisystem complications in a child with SLE
Early diagnosis and treatment of SLE are crucial to prevent severe complications.
research JAK Family Expression and Therapeutic Implications in Primary Cicatricial Alopecias
JAK inhibitors may help treat certain types of hair loss, but more research is needed.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Chinese SLE Treatment and Research group (CSTAR) registry 2009–2019: Major clinical characteristics of Chinese patients with systemic lupus erythematosus
Chinese patients with systemic lupus erythematosus commonly experience oral ulcers, arthritis, alopecia, skin rash, and nephritis.
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 Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Clinical, mechanistic, and therapeutic landscape of cutaneous fibrosis
New scientific advancements offer hope for better treatments for skin fibrosis.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
Dupilumab effectively treats severe skin issues in a rare genetic disorder.