research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
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research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Immune-Mediated Diseases of the Central Nervous System
The document explains the difficulty in diagnosing and treating brain diseases caused by the immune system and stresses the need for quick and accurate tests.
research Life threatening macrophage activation syndrome as the initial presentation of systemic lupus erythematosus: A case report and review of the literature
Macrophage activation syndrome can be a deadly first sign of systemic lupus erythematosus.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research Coexistence of dermatomyositis and alopecia areata: Insight into pathogenesis
DM and AA may share a common cause.
research Lupus-Associated Knee Pain: An Atypical Presentation of Systemic Lupus Erythematosus in a Young Male
SLE can occur in young males and cause knee pain.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Botulinum Toxin A Delivery via MMP Technique: An Emerging Therapeutic Approach for Frontal Fibrosing Alopecia
Botulinum Toxin Type A delivered through the skin may be a promising treatment for Frontal Fibrosing Alopecia.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Mitochondrial DNA Damage, Oxidative Stress, and Atherosclerosis
Improving mitochondrial health may better treat atherosclerosis than antioxidants.
research Disease-Modifying Therapy in Multiple Sclerosis: Strategies For Optimizing Management
A comprehensive approach to educating patients and managing side effects is crucial for improving adherence to multiple sclerosis treatments and patient quality of life.
research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Congenital triangular alopecia: A close mimicker of alopecia areata
CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
research Unilateral Thalamic Infarction Associated with Rupture of Dissecting Posterior Cerebral Artery in Childhood-Onset Systemic Lupus Erythematosus: A Case Report
A 16-year-old boy with lupus had a rare brain artery issue but fully recovered with treatment.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Clinical Manifestations of Dermatomyositis
Most patients with dermatomyositis had skin rash, itching, and muscle weakness, treated mainly with prednisolone and hydroxychloroquine.
research Graham-Little Piccardi Lassueur Syndrome and review of the literature
Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.
research Diffuse Alopecia Areata
Diffuse alopecia areata causes widespread hair thinning due to an autoimmune response.
research Ultra‐structural hair alterations in F riedreich's ataxia: A scanning electron microscopic investigation
Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
research Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
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 Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Linear morphea alopecia: New trichoscopy findings
Trichoscopy can reveal specific hair and scalp changes in linear morphea.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research A rare pediatric case of loose anagen hair syndrome
Loose anagen hair syndrome in children may improve with age, but treatment results vary.