research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
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750-780 / 1000+ resultsresearch Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity
The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Healthy Lifestyle and Dietary Approaches to Treating Polycystic Ovary Syndrome: A Review
Eating healthy, exercising, and changing behaviors are the best first steps to treat Polycystic Ovary Syndrome (PCOS).
research Polycystic Ovarian Disease (PCOD): A comprehensive review of pathophysiology, clinical manifestations, psychological impact, and therapeutic approaches
PCOD causes hormonal imbalances and infertility, requiring early diagnosis and treatment.
research Polycystic ovary syndrome: Pathophysiology, Symptoms, Risk factors, and Pharmacological treatment
PCOS causes hormonal issues and infertility, with treatment options including medication and lifestyle changes.
research POLYCYSTIC OVARY SYNDROME (PCOS): DIAGNOSIS, PATHOPHYSIOLOGY AND CONTEMPORARY THERAPEUTIC APPROACHES
Early diagnosis and personalized treatment are crucial for managing PCOS and preventing complications.
research An updated review on acne
Acne is a common skin condition treated with creams, antibiotics, and emerging therapies, and it can significantly affect mental well-being.
research To study on nutritional status in suffering from polycystic ovary syndrome (PCOS)
PCOS is linked to metabolic issues and infertility, needing more research.
research Tatalaksana Alopesia Androgenetik
Androgenetic alopecia can cause distress and lower quality of life.
research Recent Approaches in the Treatment of Polycystic Ovary Syndrome: An Update
There are many ways to treat Polycystic Ovary Syndrome, including lifestyle changes, surgery, and various medications, but more research is needed for better treatments.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
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 Werner's syndrome: incidental finding during pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock
Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
research Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report
Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research What’s new in Birt–Hogg–Dubé syndrome?
New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Down Syndrome and Autoimmune Disease
People with Down syndrome have a higher risk of autoimmune diseases, so early detection and care are important.
research FETAL METABOLIC PROGRAMMING IN THE ETIOLOGY OF POLYCYSTIC OVARIAN SYNDROME
Early life factors, including a mother's health and environment, can affect the chances of developing polycystic ovary syndrome later in life.