research WNT10A, Dermatology and Dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
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research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
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 Molecular Pathology of Skin Adnexal Tumors
New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
research Triad of Keratosis Pilaris, Ulerythema Ophryogenes, and 18p Monosomy: Zouboulis Syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Association of Hair Loss With Health Utility Measurements Before and After Hair Transplant Surgery in Men and Women
Hair loss greatly lowers perceived health in both genders, and hair transplant surgery notably improves this.
research Cantú Syndrome with Coexisting Familial Pituitary Adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Male Fertility and Skin Diseases
Some skin diseases and their treatments can negatively affect male fertility.
research STIM1 R304W in Mice Causes Subgingival Hair Growth and Increased Trabecular Bone Fraction
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Research Brief: Self-Reports of Persistent Antiandrogenic, Estrogenic, Physical, and Psychological Effects of Finasteride Usage Among Men
Finasteride use can cause lasting negative effects like sexual dysfunction, depression, anxiety, and cognitive issues.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Becker’s Nevus Syndrome in a Pediatric Female Patient
A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
research Hair and Nail Disorders of Childhood
The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
research The Frequency of Visceral and Phenotypic Markers in Patients with the Combination of Undifferentiated Connective Tissue Disease and Gastroesophageal Reflux Disease
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research Cervical Spine Imaging and Treatment Outcomes in Scalp Dysesthesia: A Retrospective Cohort Study
Degenerative changes in the lower cervical spine are common in patients with abnormal scalp sensations, with some improvement seen using pain medication and physical therapy.
research Unilateral Straight Hair: A Symptom of Acquired Horner's Syndrome in a Neonate
A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Delayed Diagnosis of Kearns-Sayre Syndrome in a 38-Year-Old Male Patient: A Case Report
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research Letters to Dermatology
Stopping forehead irritation and using hydrocortisone helped a man's skin, Martinique has lower melanoma rates, a man had an allergy to a specific antifungal, another had unexplained cysts, certain drugs can cause skin reactions without always being interrelated, a link between Fanconi anemia and a skin condition was suggested, high levels of a certain protein may play a role in a type of psoriasis, and there's a need to study the connection between scalp pain and hair loss.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research Nevus Comedonicus in a Malay Man: A Case Report and Review of Literature
A 25-year-old Malay fireman had skin bumps on his neck that were removed successfully after other treatments failed.
research Perspectives on Dermatopathology
Dermatopathology has made significant progress but many skin diseases remain incurable, requiring ongoing research.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Abstracts of 28th Annual Meeting of Turkish Society of Neuroradiology with International Participation, Conrad Istanbul Bosphorus, Istanbul, Turkey, February 15-17, 2019
MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Delayed Puberty: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Expanding The Phenotype Of Hyper-IgE Syndrome: Heterozygous Variant In IL6ST With Elevated Serum IgE And Isolated Abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.