research Advances in Genetic and Molecular Understanding of Omenn Syndrome: Implications for the Future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
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research Characterization of Novel TMEM173 Mutation with Additive IFIH1 Risk Allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Skin Manifestations in Primary Immunodeficient Children
Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.
research Perspectives on Dermatopathology
Dermatopathology has made significant progress but many skin diseases remain incurable, requiring ongoing research.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research Primary Hypothyroidism and Thyroid Goiter in an Adult Cat
The cat's hypothyroidism was successfully managed with levothyroxine, leading to a stable condition.
research Untreated Congenital Adrenal Hyperplasia Presenting with Severe Androgenic Alopecia
Untreated Congenital Adrenal Hyperplasia can cause severe hair loss due to high androgen levels.
research Modern Endovascular and Aesthetic Surgery Techniques to Treat Arteriovenous Malformations of the Scalp: Case Illustration
New techniques for treating scalp blood vessel malformations are effective and can have good cosmetic results.
research Contents
Hair disorders need a holistic approach, including medical, cosmetic, and psychological support.
research Molecular Genetics of Androgen Insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
research Harlequin Ichthyosis (ICHQ): A Juvenile Lethal Mouse Mutation with Ichthyosiform Dermatitis
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Biological Significance of FoxN1 Gain-of-Function Mutations During T and B Lymphopoiesis in Juvenile Mice
FoxN1 overexpression in young mice harms immune cell and skin development.
research Learning From Nudity: Lessons From The Nude Phenotype
The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
research A Study on the Efficacy of Oral Zinc Therapy for the Treatment of Acrodermatitis Enteropathica
Oral zinc therapy is effective for treating acrodermatitis enteropathica.
research Antioxidants in Dermatology
Antioxidants can benefit skin health but should be used carefully to avoid negative effects.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Determination of Rat 5α-Reductase Type 1 Isozyme Activity and Its Inhibition by Novel Steroidal Oxazolines
New steroidal compounds moderately block an enzyme related to testosterone conversion, less effectively than finasteride.
research Clinical Use of 5α-Reductase Inhibitors
Finasteride effectively treats hair loss and enlarged prostate in men, with mild side effects.
research Standards of Care for the Health of Transsexual, Transgender, and Gender-Nonconforming People, Version 7
The guidelines recommend informed consent for gender-affirming treatments and stress the importance of personalized, culturally sensitive care for transgender individuals.
research An Update on Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Delivery of Tissue-Targeted Scalpels: Opportunities and Challenges for In Vivo CRISPR/Cas-Based Genome Editing
Using CRISPR for gene editing in the body is promising but needs better delivery methods to be more efficient and specific.
research A Practical Approach to the Diagnosis and Management of Hair Loss in Children and Adolescents
Early and personalized treatment for hair loss in young people is crucial to prevent permanent damage and should include psychological support.
research Congenital Adrenal Hyperplasia: A Review of 21-Hydroxylase Deficiency and Diagnostic Challenges
The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
research Endocrine Treatment of Benign Prostatic Hypertrophy: Current Concepts
New hormonal treatments for enlarged prostate show promise for safer, effective non-surgical options.
research Tumor Promotion in Skin: Are Active Oxygen Species Involved?
Active oxygen species might be involved in skin tumor growth, but their exact role is unclear.
research The Spectrum of Nephrocutaneous Diseases and Associations
Skin doctors should know about skin and kidney disease links to prevent serious kidney problems.
research The Biomedical Role of Zinc in the Functioning of the Human Organism
Zinc is essential for many body functions and imbalances can lead to health problems.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.