research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
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research Voice changes in reproductive disorders, thyroid disorders and diabetes: a review
People with reproductive, thyroid disorders, and type 2 diabetes can experience voice changes, but more research is needed to understand this better.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research Surgical approach of ectropion in lamellar ichthyosis
Surgery on a baby with a skin disorder improved eyelid position and eye health.
research Clinical Approach to the Patient With Alopecia
Most hair loss disorders can be accurately diagnosed and treated in an outpatient setting.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Polycystic Ovary Syndrome
PCOS is a complex disorder in women that can lead to various health risks and requires personalized treatment.
research Does D matter? The role of vitamin D in hair disorders and hair follicle cycling
Vitamin D may help treat hair disorders.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Diseases of Periocular Hair
The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
research Trace element zinc and skin disorders
Zinc is important for skin health, and supplements can help treat various skin and hair disorders, but more research is needed for conditions like psoriasis and vitiligo.
research The Nutrient–Skin Connection: Diagnosing Eating Disorders Through Dermatologic Signs
Skin, hair, and nail changes can help detect eating disorders early.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Association of Acne Tarda with Endocrinological Disorders
Adult acne is often related to hormonal disorders, especially in women, and may need long-term treatment involving specialists.
research The molecular basis of human keratin disorders
research Addisonian crisis in a young man with atypical anorexia nervosa
A young man with an eating disorder had a life-threatening adrenal crisis due to an autoimmune condition, highlighting the need for better education on managing hormone treatments.
research Great Expectations: Induced pluripotent stem cell technologies in neurodevelopmental impairments
iPSCs help understand and treat neurodevelopmental disorders.
research Monilethrix: A case report imaged by trichoscopy, reflectance confocal microscopy and histopathology
Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
research Critical Evaluation of Concept of Genetics in Ayurveda WSR to Eight Undesired Body Types (Ashta Nindit)
Ayurveda's descriptions of genetic disorders align with modern genetic understanding.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Hidradenitis Suppurativa and Comorbid Disorder Biomarkers, Druggable Genes, New Drugs and Drug Repurposing—A Molecular Meta-Analysis
The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
research DIFERENÇAS NA APRESENTAÇÃO E DIAGNÓSTICO DE TRANSTORNO DO ESPECTRO AUTISTA EM MENINOS E MENINAS: PERCEPÇÃO DOS PROFISSIONAIS DA SAÚDE
Girls with Autism Spectrum Disorder may show different symptoms than boys, leading to missed or delayed diagnoses.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
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 Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: 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 The Dickkopf Protein Family in Non-Neoplastic Disorders: Emerging Roles and Therapeutic Targeting
DKK proteins could help diagnose and treat various non-cancerous diseases.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.