research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
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research Polycystic ovary syndrome in men
Men with early balding may have hormonal imbalances similar to women with PCOS and could benefit from similar treatments.
research Clinical features and presentation of polycystic ovary syndrome
PCOS is a hormonal disorder causing symptoms like excess hair, acne, irregular periods, and fertility issues.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research Alopecia Areata: A Review of the Genetic Variants and Immunodeficiency Disorders Associated with Alopecia Areata
Alopecia areata is an autoimmune hair loss condition linked to genetic factors.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
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.
research Systemic Lupus Erythematosus: Definitions, Contexts, Conflicts, Enigmas
The document concludes that anti-dsDNA antibodies are not unique to SLE and their use as indicators is doubtful, highlighting the need for better understanding and classification of the disease.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Anterior neck fat deposition in lipodystrophy syndrome; a new variant on a theme?
A new form of lipodystrophy in HIV patients causes neck fat buildup.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Graft-versus-host disease with acute hair loss: A distinctive manifestation of chronic graft-versus-host disease
People with allergies or high eosinophil levels have a higher chance of severe hair loss from alopecia areata, and sudden hair loss can indicate chronic graft-versus-host disease.
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 Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research Cutaneous manifestations associated with immune checkpoint inhibitors
Immune checkpoint inhibitors can cause skin issues but are linked to better cancer outcomes.
research Cutaneous manifestations associated with COVID-19 infection at a university hospital in eastern China
Skin symptoms like rashes and sores can indicate COVID-19 severity, especially in older people.
research Comparison of mathematical indices of insulin resistance for clinical application in the four phenotypes of polycystic ovarian syndrome
Insulin resistance varies among PCOS types, and simple math tools can help identify it early.
research Dermatologic Manifestations of Polycystic Ovary Syndrome
Women with PCOS often have skin problems like excessive hair, acne, hair loss, and dark patches, which can be treated with hormonal and non-hormonal therapies.
research Cutaneous manifestations of the subtypes of polycystic ovary syndrome in Korean patients
Korean patients with PCOS often have skin problems like acne and excess hair, with different symptoms based on their specific PCOS type.
research Cutaneous Manifestations in Biological-Treated Inflammatory Bowel Disease Patients: A Narrative Review
Biologic treatments for Crohn's disease and ulcerative colitis can cause skin problems, and doctors should adjust treatment if these occur.
research Dermatologic manifestations of endocrine disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research Clinical manifestations of polycystic ovary syndrome
PCOS causes hormonal imbalances, irregular periods, and can lead to infertility, obesity, and mental health issues.
research Evaluating combined therapy with myoinositol and D-chiro-inositol in infertility management across PCOS phenotypes: a comprehensive retrospective data analysis
The combined therapy improved fertility in women with PCOS, especially in certain types.