research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
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research Metabolic Syndrome, Cardiovascular Disease, and the Hair Growth Cycle: Addressing Hair Growth Disruptions Using Nourkrin with Marilex as a Proteoglycan Replacement Therapy: A Concise Review
Nourkrin® with Marilex® may significantly increase hair growth and alopecia could be an early sign of metabolic syndrome.
research Diagnostic Challenges in Determining Alopecia Areata
Diagnosing alopecia areata is challenging and requires careful examination and various tests to distinguish it from other hair loss types.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
research Phenotypic Comparison of Caucasian and Asian Women With Polycystic Ovary Syndrome: A Cross-Sectional Study
Caucasian and Asian women with PCOS generally show similar symptoms, except Asian women have less chest hair.
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 Phenotypic Variability Associated with WNT10A Nonsense Mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
research Care of the Newborn with Ichthyosis
Newborns with ichthyosis need specific care based on their skin type.
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 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 Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Phenotypic Variation in Biotinidase Deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
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 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 Biologically 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 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 Dermatologic Manifestations of Endocrine Disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research Cutaneous Manifestations of Polycystic Ovarian Disease
Skin problems like excessive hair growth, acne, and dark skin patches can be signs of Polycystic Ovarian Disease, which may also be linked to family history and a risk for diabetes.
research Mucocutaneous Manifestations of Endocrine Disorders
Skin symptoms can indicate endocrine disorders and have various treatments.
research Diagnosis and Management of the Dermatologic Manifestations of Polycystic Ovary Syndrome
The document concludes that accurate diagnosis and personalized treatment are important for skin problems in women with PCOS.
research Manifestations of Excessive Daytime Sleepiness and Ghrelin Level in Gastroesophageal Reflux Disease Patients with Undifferentiated Connective Tissue Disease
GERD symptoms are linked to acid exposure time and daytime sleepiness, influenced by ghrelin levels.
research Observation of Phenotypic Variation Among Indian Women With Polycystic Ovary Syndrome (PCOS) From Delhi and Srinagar
Indian women with PCOS from Delhi and Srinagar show different symptoms, with Delhi women having higher obesity and blood sugar issues, and Srinagar women showing more hair growth and testosterone levels.
research Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Prevalence of Skin Manifestations in Patients with Polycystic Ovarian Syndrome
Skin issues are common and important for diagnosing PCOS.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Overview of Common, Rare, and Atypical Manifestations of Cutaneous Lupus Erythematosus and Histopathological Correlates
The document concludes that recognizing and treating cutaneous lupus erythematosus early is crucial for managing the skin and potential systemic symptoms.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
Classical PCOS types A and B are most common and linked to higher health risks.