research Marie Unna Hereditary Hypotrichosis: Identification of a U2HR Mutation in the Family from the Original 1925 Report
Researchers found a gene mutation responsible for a rare hair loss condition.
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research Therapeutic Control of Androgen Action
Understanding how androgens work is key for creating new treatments for prostate issues and hair/skin conditions.
research Mitochondrial DNA 10158T>C Mutation in a Patient with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Case Report of Schöpf–Schulz–Passarge Syndrome Resulting from a Missense Mutation, p.Arg104Cys, in WNT10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research CD201+ Fascia Progenitors Choreograph Injury Repair
CD201+ fascia progenitors are essential for wound healing and could be targeted for treating skin conditions.
research Urticaria, Drug Hypersensitivity Rashes, Nodules and Tumors, and Atrophic Diseases
The document concludes that various skin conditions have specific treatments, ranging from antihistamines for urticaria to surgery and medication for tumors and chronic skin diseases.
research Natural Course of Epidermolysis Bullosa Simplex with Mottled Pigmentation in a Japanese Family with the p.P25L Mutation in KRT5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Heterozygous 21-Hydroxylase Deficiency as a Cause of Hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Case Report: Acrodermatitis Enteropathica Resulting From a Novel SLC39A4 Gene Mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Availability of mRNA from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
research Drug Eruptions
Any medication can cause skin reactions, some due to allergies and others due to dosage or genetic factors.
research Becker Naevus Syndrome Associated With a Mosaic Pathogenic Variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Hair Restoration for the Otolaryngologist
Most men seeking hair transplants have Male Pattern Baldness, influenced by genetics, age, and testosterone, while women's hair loss can be affected by thyroid function, iron, testosterone, prolactin, ferritin levels, and certain conditions. Follicular Unit Extraction is a popular hair transplant technique.
research Proceedings of the Inaugural Pediatric Dermatology Research Alliance Conference
The conference concluded with plans for joint research into children's skin conditions and emphasized the importance of collaboration and patient-focused research.
research Disorders Linked to Insufficient Androgen Action in Male Children
Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
research Developmental Origin of Polycystic Ovary Syndrome: A Hypothesis
The hypothesis suggests that PCOS may start early in life due to genetic and environmental factors, influencing future reproductive and metabolic problems.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Melasma, A Photoaging Disorder
Melasma is now considered a skin aging disorder caused by sun exposure in people with a genetic tendency, which impacts treatment and prevention approaches.
research Disorders Linked to Insufficient Androgen Action in Male Children
Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
research Acquired Scalp Alopecia: A Review
Early diagnosis and treatment are crucial for preventing permanent hair loss in various scalp conditions, and while new treatments are promising, more research is needed to evaluate their effectiveness.
research Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis is a rare, serious skin condition that can affect anyone, is more common in women, and may be linked to genetics, with a 20% mortality rate mainly due to sepsis.
research The Hair Shaft: Normality, Abnormality, and Genetics
Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
research Androgenic Alopecia: Case Study and Treatment Analysis
Androgenic Alopecia, a common hair loss condition, can be effectively treated with finasteride and other treatments.
research Rare Clinical Features of the Ellis Van Creveld Syndrome: A Case Report and Literature Review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research Acne Tarda and Male-Pattern Baldness Unmasking Primary Ovarian Insufficiency: A Case and Review
A woman with acne and baldness was found to have a rare ovarian condition but successfully had a child through fertility treatment.
research Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B
A new mutation in the K6b gene caused a girl's late-appearing nail condition.