research Novel Compound Heterozygous Mutations in the Desmoplakin Gene Cause Hair Shaft Abnormalities and Culminate in Lethal Cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
Search
for
Sort by
Research
780-810 / 1000+ results
research Viewpoint 1
Understanding skin patterns can help us learn about skin diseases and their treatments.
research Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: A Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research Novel Insights Into Cardiocutaneous Syndromes
Understanding genetics is crucial for treating heart and skin diseases.
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 Cicatricial Alopecia Research Foundation Meeting, May 2016: Progress Towards the Diagnosis, Treatment, and Cure of Primary Cicatricial Alopecias
The meeting focused on understanding, diagnosing, and finding treatments for irreversible hair loss diseases.
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 Rare and Underappreciated Causes of Polycystic Ovarian Syndrome
Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.
research The Pathobiology of Skin Aging
Skin aging is a complex process influenced by various factors, leading to wrinkles and sagging, and should be considered a disease due to its health impacts.
research Temporal Triangular Alopecia and a Review of 52 Past Cases
Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
research Hair Loss in Women: A Study at Sheffield Royal Infirmary (1959-1966)
Hair loss in women often doesn't follow a pattern, isn't linked to age, may be genetic, and can be related to thyroid issues or other health factors.
research Cutaneous Lupus Erythematosus: Clinico-Pathologic Correlation
Cutaneous lupus erythematosus is a chronic skin disease that can progress to systemic lupus in some cases and requires treatment to prevent recurrences and scarring.
research Pemphigus Vulgaris in Only One of Two Monozygotic Twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
research Hair Loss
Up to 50% of scalp hair can be lost before it appears thin, and treatment is only needed for hair loss caused by diseases or deficiencies.
research Lean Women with Polycystic Ovary Syndrome
PCOS in lean women is a serious health condition with implications beyond fertility, affecting metabolism and increasing cardiovascular disease risk.
research Clinical Guidelines of Ukrainian Hair Research Society: Diagnosis and Treatment of Alopecia Areata
The guidelines suggest using various treatments, including antidepressants and steroids, for alopecia areata and discuss the condition's genetic and immune aspects.
research Polycystic Ovary Syndrome and Its Impact on Health
PCOS affects women's health by increasing the risk of diabetes, heart disease, and reproductive issues.
research Turner's Syndrome Associated With Psoriasis and Alopecia Areata
Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.
research Characterization of X-Linked SNP Genotypic Variation in Globally Distributed Human Populations
The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
research Alopecia Areata in a Rhesus Monkey (Macaca Mulatta)
The monkey's hair loss was due to an autoimmune disease, not genetics.
research Current Aspects of Polycystic Ovary Syndrome: A Literature Review
Polycystic ovary syndrome is a common hormonal disorder in women, linked to increased risk of metabolic and heart diseases, and needs more research for better understanding and treatment.
research Central Centrifugal Cicatricial Alopecia: Possible Familial Aetiology in Two African Families from South Africa
The conclusion is that hair loss from CCCA may be genetic and not solely caused by hair grooming practices.
research A Novel Nonsense CDH3 Mutation in Hypotrichosis with Juvenile Macular Dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Complex X Chromosome Rearrangement Associated with Multiorgan Autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research A New Locus for Hereditary Hypotrichosis Simplex Maps to Chromosome 13q12.12-12.3 in a Chinese Family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research COVID-19 and Autoimmunity in Dermatology: A Moroccan Case Series and Literature Review
COVID-19 can lead to different skin symptoms and might trigger autoimmune diseases in genetically susceptible people.
research Insights Into Alopecia Areata: A Systematic Review Of Prevalence, Pathogenesis, And Psychological Consequences
Alopecia Areata affects people of all ages worldwide, is likely caused by genetic and environmental factors, and can lead to stress and depression, highlighting the need for treatments that address both physical and mental health.
research A Rare Manifestation of STING-Associated Vasculopathy with Onset in Infancy: A Case Report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research The Relation Between Vitiligo and Other Autoimmune Disorders
Vitiligo is often found with other autoimmune diseases, which is important to know to help patients.