research Ichthyosis With Confetti: A Rare Diagnosis And Treatment Plan
A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
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research Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Adult Onset Isolated Hypogonadotropic Hypogonadism: A Cause of Secondary Amenorrhea
A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
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 Molecular Evolution of HR, a Gene That Regulates the Postnatal Cycle of the Hair Follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Management of Congenital Ichthyoses: European Guidelines of Care, Part Two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Alopecia Areata: A Review of Disease Pathogenesis
Alopecia areata is likely an autoimmune disease with unclear triggers, involving various immune cells and molecules, and currently has no cure.
research Mouse Models for the Study of Human Hair Loss
Mice are useful for researching human hair loss and testing treatments, despite some differences between species.
research Hair Manifestations of Systemic Disease
Hair changes can indicate systemic diseases or medication effects.
research Hairless: A Nuclear Receptor Corepressor Essential for Skin Function
The Hairless gene is crucial for healthy skin and hair growth.
research Types and Treatment of Hair Loss in Men and Women
The article concludes that different types of hair loss require specific treatments and psychological support is important.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Rabson-Mendenhall Syndrome: Two Case Reports and a Brief Review of the Literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Vitamin D Resistant Rickets With Alopecia: A Form of End Organ Resistance to 1,25 Dihydroxy Vitamin D
A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
research Montagna Symposium 2017—Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment
The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
research Revised 2003 Consensus on Diagnostic Criteria and Long-Term Health Risks Related to Polycystic Ovary Syndrome (PCOS)
The 2003 consensus updated PCOS diagnosis criteria and linked PCOS to higher risks of diabetes and heart problems, recommending lifestyle changes to lower these risks.
research The Androgen Excess and PCOS Society Criteria for the Polycystic Ovary Syndrome: The Complete Task Force Report
The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
research Dupilumab: A Review of Present Indications and Off-Label Uses
Dupilumab is being tested for many new skin, respiratory, and gastrointestinal conditions.
research Polycystic Ovary Syndrome and Its Differential Diagnosis
The document concludes that correct diagnosis and management of PCOS are important, and more research is needed on its risks and treatments.
research Basics of Androgen Synthesis and Action
Androgens like testosterone are important hormones for both men and women, made differently in each sex and affecting the body by regulating genes and quick interactions with cell components.
research Friends Turned Foes: Angiogenic Growth Factors Beyond Angiogenesis
Some growth factors, while important for normal body functions, can cause diseases when not regulated properly.
research Evolving Approaches to Profiling the Microbiome in Skin Disease
New technologies help us better understand how skin microbes affect skin diseases.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research Zinc and Zinc Transporters in Dermatology
Zinc is crucial for skin health and treating various skin disorders.
research Proceedings of the Ninth World Congress for Hair Research 2015
The 2015 Hair Research Congress concluded that stem cells, maraviroc, and simvastatin could potentially treat Alopecia Areata, topical minoxidil, finasteride, and steroids could treat Frontal Fibrosing Alopecia, and PTGDR2 antagonists could also treat alopecia. They also found that low-level light therapy could help with hair loss, a robotic device could assist in hair extraction, and nutrition could aid hair growth. They suggested that Alopecia Areata is an inflammatory disorder, not a single disease, indicating a need for personalized treatments.