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.
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research Ocular Manifestations of Hutchinson-Gilford Progeria Syndrome: A Rare Presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research Oral Retinoids in Dermatology
Oral retinoids are effective for severe skin conditions but require careful use due to side effects.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Complex X Chromosome Rearrangement Associated with Multiorgan Autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research The Efficacy and Safety of Valproic Acid Medications with Controlled Active Ingredient Release in Adults in Real Clinical Practice from the Position of Pharmacokinetic and Pharmacogenetic Approaches
Sustained-release sodium valproate is effective in treating epilepsy, with some side effects influenced by genetics.
research Inherited Hairlessness: A Case Study of Familial Congenital Atrichia
The document concludes that the girl's hairlessness is likely inherited from her parents.
research Androgenetic Alopecia: Etiopathogenic Aspects, Diagnostic Methods, and Therapeutic Approaches
Common baldness is a hereditary condition that can be treated with medications or surgery to prevent progression and improve self-esteem.
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 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 Contents
The document concludes that there have been significant advances in the treatment and diagnosis of various 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 FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research The Cat With Alopecia
Cats lose fur due to various reasons, including allergies, infections, genetics, hormones, diet, cancer, stress, and some conditions are treatable while others are not.
research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Management of the Female With Non-Classical Congenital Adrenal Hyperplasia: A Patient-Oriented Approach
The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Exome Analysis for Cronkhite-Canada Syndrome: A Case Report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Pachyonychia Congenita: Sporadic Onset With Mutation Analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Viewpoint 1
Understanding skin patterns can help us learn about skin diseases and their treatments.
research Hereditary Vitamin D Rickets: A Case Series in a Family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research Contemplation On Polycystic Ovarian Syndrome
PCOS is a common hormonal disorder in women, causing symptoms like acne and irregular periods, and is managed with medication and lifestyle changes.
research Gender Aspects in Skin Diseases
Men are more likely to get infectious skin diseases, while women are more prone to autoimmune and pigment-related skin conditions, influenced by biological and environmental factors.
research Study on Nutritional Status in Suffering from Polycystic Ovary Syndrome (PCOS)
PCOS is linked to metabolic issues and infertility, needing more research.
research Geriatric Dermatology: Overview
Skin problems in the elderly are unique and may indicate other diseases, involving changes in skin, hair, nails, and increased cancer risk.
research The Pathophysiology of Polycystic Ovary Syndrome
Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
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.