research Differential Diagnosis of Hyperandrogenism in Women with Polycystic Ovary Syndrome
The conclusion is that accurately identifying the cause of high androgen levels in women with PCOS is crucial and requires specific tests.
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research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
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 Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Disorders of hair
The document concludes that hair analysis is not good for assessing nutrition but can detect long-term heavy metal exposure.
research Hair loss in infancy and childhood
The document concludes that understanding hair biology and recognizing hair conditions are crucial for managing and treating hair loss in children.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Genetically modified laboratory mice with sebaceous glands abnormalities
Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
research Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism
Borderline newborn screening results should be carefully evaluated to prevent delayed diagnosis of thyroid issues.
research Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research Methods of hair loss evaluation in patients with endocrine disorders.
The document concludes that most patients with endocrine disorders experience diffuse, non-scarring hair loss, with scarring hair loss being rare.
research The Effect of Sex on the Risk of Long-COVID and Cardiovascular Complications in Healthy Patients without Comorbidities: Data from a Polish Long-COVID Cardiovascular (PoLoCOV-CVD) Study
Females are more likely than males to experience long-COVID symptoms and heart issues.
research Effects of natural products on skin inflammation caused by abnormal hormones secreted by the adrenal gland
Natural products may help treat skin inflammation from abnormal adrenal hormones.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Analysis of hair loss in young adults- A clinical study
Hair loss in young adults is common and varies in pattern, cause, and type.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
research Hair loss disorders in domestic animals
The book explains causes, diagnosis, and treatments for hair loss in pets.
research Significant Hair Regrowth With 5% Topical Minoxidil in a Child With Marie Unna Hereditary Hypotrichosis Caused by a Recurrent HRURF Variant
5% topical minoxidil can significantly improve hair growth in children with Marie Unna hereditary hypotrichosis.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research Temporal triangular alopecia
A 23-year-old man has a benign, non-progressive hair loss patch that doesn't respond to treatment but can be cosmetically treated.
research Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors
Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Prevalence, Phenotypes, and Comorbidities of Polycystic Ovary Syndrome Among Indian Women
PCOS is common among Indian women, often with metabolic issues, needing better management strategies.