research Inherited Disorders of Corneocyte Proteins
Ichthyoses are genetic skin disorders that affect the skin's barrier function.
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research Application of Multi-Omics Techniques to Androgenetic Alopecia: Current Status and Perspectives
Multi-omics techniques help understand the molecular causes of androgenetic alopecia.
research Discordant Phenotype in Monozygotic Twins with Mosaic Trisomy 12p in Lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Molecular–Clinical Correlations in a Family with Variable Tissue Mitochondrial DNA T8993G Mutant Load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Human Clinical Phenotype Associated With FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
Classical PCOS types A and B are most common and linked to higher health risks.
research Is There Any Association Between Clinical and Biochemical Hyperandrogenism in Women With Female Pattern Hair Loss?
Clinical signs of hyperandrogenism are related to female pattern hair loss severity, but biochemical markers are not.
research Development and Evaluation of Novel Rodent Model of PCOS Mimicking Clinical Phenotype in Human Disease
The new rodent model successfully mimics non-lean human PCOS symptoms.
research Current and Novel Methods for Assessing Efficacy of Hair Growth Promoters in Pattern Hair Loss
New methods improve how we test hair growth treatments, but challenges like slow hair changes and high costs remain.
research Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Five Cluster Classifications of Long COVID and Their Background Factors: A Cross-Sectional Study in Japan
The study identified five types of long COVID symptoms and suggests tailored management strategies for each.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Endocrinopathies and Other Disorders Inducing a Polycystic Ovary Syndrome Phenotype
Some conditions mimic PCOS symptoms and need careful diagnosis to treat potentially serious health issues.
research 5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Association of Insulin Resistance with Polycystic Ovary Syndrome Phenotypes and Patients’ Characteristics: A Cross-Sectional Study in Iran
Most women with PCOS have insulin resistance, especially those with phenotype B.
research Clinical, Histopathological and Immunological Characteristics of Exfoliative Cutaneous Lupus Erythematosus in 25 German Short-Haired Pointers
A disease causing skin issues in young adult German short-haired pointers is hereditary, with most affected dogs not responding to treatment.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Monitoring of Clinical Signs in Goats with Transmissible Spongiform Encephalopathies
Goats with BSE or scrapie show varying symptoms, and using only clinical signs may not detect all scrapie cases.
research Cephalalgia Alopecia or Nummular Headache With Trophic Changes? A New Case With Prolonged Follow-Up
A woman's headache and hair loss were relieved by Botox injections.
research Diagnostic Approach to Low-Renin Hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Intermediate Hair Follicles from Patients with Female Pattern Hair Loss Are Associated with Nutrient Insufficiency and a Quiescent Metabolic Phenotype
Nutritional supplements may help improve hair growth in female pattern hair loss.
research Differential Diagnosis of Hair Loss in Children
The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
research Management of Hidradenitis Suppurativa
Effective treatment for hidradenitis suppurativa varies, with antibiotics commonly used and surgery as an option, but no single method is universally successful.
research Age-Related Loss of Innate Immune Antimicrobial Function of Dermal Fat Is Mediated by Transforming Growth Factor Beta
Targeting TGFβ can improve skin immunity in older people.
research Clinical Management of Patients with ASXL1 Mutations 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.