research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
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960-990 / 1000+ resultsresearch Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Mitochondrial dysfunction in an animal model of diabetic neuropathy is associated with a reduction of neurosteroid synthesis.
Diabetic neuropathy in mice is linked to poor mitochondria function and lower brain hormone production.
research P56 Azathioprine-induced alopecia totalis and knuckle hyperpigmentation in a child with uveitis: test before you leap!
Monitor for early signs of azathioprine toxicity and check blood counts regularly.
research Necrolytic Migratory Erythema in a Cat with Glucagonoma Syndrome
A cat with a rare pancreatic tumor and diabetes died despite treatment, showing similar symptoms to a human condition.
research Do Dermatoses Trigger Neurodegenerative Diseases? A Retrospective Observational Study
Skin issues are common in people with neurodegenerative diseases.
research Severe Alopecia Complicating Systemic Sclerosis
A woman with severe hair loss due to systemic sclerosis regrew her hair in 4 months using a combination of treatments.
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 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 Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock
Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
research Nail changes in patients with graft-versus-host disease
Patients with graft-versus-host disease often have nail changes related to the nail matrix, with severity not linked to skin condition.
research #3665 Glyoxylic acid induce crystalline nephropathy and hair-straightening products: a case report
Hair-straightening products with glyoxylic acid can cause kidney damage.
research Bilateral Burning Palmoplantar Lesions
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
research Neuropsychiatric Systemic Lupus Erythematosus Presenting as Bipolar I Disorder With Catatonic Features
A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research 022 Exploring the potential of the novel IFNγ aptamer TAGX-0003 as a treatment for alopeciaareata in pre-clinical models
The new aptamer TAGX-0003 shows promise as an effective treatment for hair loss disorder alopecia areata.
research Alopecia Areata in C3H/HeJ Mice Involves Leukocyte-mediated Root Sheath Disruption in Advance of Overt Hair Loss
Hair loss in mice starts with immune cells damaging hair roots before it becomes visible.
research Multifocal alopecia of the scalp, axillae, and body
A young man was diagnosed with a rare hair loss condition usually seen in older women.
research Addressing an antiferromagnetic memory
Researchers developed a new type of memory using antiferromagnets that is stable, not disrupted by magnets, and works at room temperature.
research Topical Tacrolimus (FK506): Treatment Failure in Four Cases of Alopecia Universalis
Topical tacrolimus did not regrow hair in alopecia universalis patients.
research Clinicopathologic lessons in distinguishing cicatricial alopecia: 7 Cases of lichen planopilaris misdiagnosed as discoid lupus
Seven patients were misdiagnosed with discoid lupus instead of lichen planopilaris due to similar symptoms, showing the need for careful diagnosis in scarring hair loss conditions.
research Alopesia Androgenetik: Mengenali Manifestasi Klinis Hingga Tatalaksana
AAG causes hair loss in many people, with limited treatments like finasteride, minoxidil, light therapy, and hair transplants.
research Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy
The research suggests that autophagy-related genes might play a role in causing alopecia areata.
research Linear morphea alopecia: New trichoscopy findings
Trichoscopy can reveal specific hair and scalp changes in linear morphea.
research Alopecia Areata in a Dog: Clinical, Dermoscopic and Histological Features
The dog with an Alopecia Areata-like condition showed signs of an autoimmune disease and partially regrew hair without treatment, suggesting dogs could be models for human AA research.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.