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.
Search
for
Sort by
Research
570-600 / 1000+ results
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Dermoscopy of annular elastolytic giant cell granuloma
Dermoscopy helped diagnose a rare skin disease which slightly improved with treatment.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research The development of universal alopecia during therapy with TNF-α inhibitors in patients with ankylosing spondylitis: description of three cases
TNF-α inhibitors may cause complete hair loss in some patients with ankylosing spondylitis.
research Dermatophytosis and papular eosinophilic/mastocytic dermatitis (urticaria pigmentosa-like dermatitis) in three Devon Rex cats
Devon Rex cats with skin issues were successfully treated with antifungal medication.
research Tinea capitis favosa misdiagnosed as tinea amiantacea
Misdiagnosis led to permanent hair loss, stressing the need for proper scalp tests.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Concurrent Eosinophilia Increases the Prevalence of Nail Abnormalities and Severity of Hair Loss in Patients With Alopecia Areata
Patients with alopecia areata and eosinophilia have more nail issues and severe hair loss.
research Re-discovery of Trichophyton bullosum in North Africa as a cause of severe dermatophytosis in donkeys
Trichophyton bullosum has been found causing severe skin infections in donkeys in North Africa for the first time since 1933.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
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.
research COLOCOLIZATION OF VITILIGO AND ALOPECIA AREATA
Vitiligo and alopecia areata may share common causes.
research Clinical Quiz No. 2
Dermatophycosis is a treatable fungal skin infection spread by contact with infected animals.
research Moth-eaten alopecia and beyond: Syphilitic alopecia - Revisited
Syphilitic alopecia can be effectively diagnosed and treated, leading to hair regrowth.
research Prominent follicular mucinosis with diffuse scalp alopecia resembling alopecia areata
A woman's hair loss, resembling an autoimmune condition, improved after treatment, but requires ongoing checks due to potential serious associations.
research Full‐house nephropathy in antinuclear antibody‐negative systemic lupus erythematosus: A case report
ANA-negative lupus nephritis can be diagnosed and treated effectively with a comprehensive approach.
research Alopecia areata in Down syndrome: a clinical evaluation
People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.
research A Rare Case of Antinuclear Antibody-Negative Systemic Lupus Erythematosus Presenting With Generalized Lymphadenopathy as the Initial Manifestation
A 16-year-old girl with lupus symptoms improved with treatment despite negative ANA tests.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Pemphigus vulgaris in only one of two monozygotic twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
research Comparison of Alopecia areata in Human and Nonhuman Mammalian Species
The document concludes that certain rats and mice are useful for studying hair loss in humans and testing treatments.
research Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
research Cervical cancer metastasis to the scalp presenting as alopecia neoplastica
A woman with cervical cancer had rare scalp metastasis causing a unique type of hair loss.
research Histological and dermatoscopic description of sphynx cat skin
Sphynx cats have abnormal hair follicles and keratinization affecting their skin.
research Plica neuropathica: novel presentation of a rare disease
A girl with no hair neglect developed plica neuropathica in the hospital, lost all her hair, but it grew back.
research Short sequence repeats of the intergenic spacer regions of ribosomal RNA genes in Malassezia globosa and M. restricta colonizing the scalps of male individuals with and without androgenetic alopecia
A specific DNA pattern in Malassezia restricta may be linked to hair loss in men.
research Pyroptosis in Alopecia Areata: Synthesizing Emerging Hypotheses and Charting a Path to New Therapies
Targeting pyroptosis may offer new treatments for alopecia areata, but more research is needed.
research Erosive pustular dermatosis of the scalp and multiple sclerosis: just a coincidence?
EPDS and MS might share an immune-related cause.
research Identification of the Ovine Keratin-Associated Protein 22-1 (KAP22-1) Gene and Its Effect on Wool Traits
The gene KAP22-1 affects wool yield and fiber shape in sheep.