research Clinical Report of a Holstein Calf with Ichthyosis
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
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research Congenital Adrenal Hyperplasia: Comprehensive Overview and Clinical Management
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Helpful Diagnostic Markers of Steroidogenesis for Defining Hyperandrogenemia in Hirsute Women
The study concluded that androstendione and DHEA are important for diagnosing high male hormone levels in women with excessive hair growth.
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 Encephalocraniocutaneous Lipomatosis, A Rare Neurocutaneous Disorder: Report Of Additional Three Cases
ECCL should be considered in patients with specific skin and eye lesions.
research Human Clinical Phenotype Associated With FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
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 Follicular Ichthyosis: A Study of Four Patients with Congenital Follicular Hyperkeratosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research Approach to Investigation of Hyperandrogenism in a Postmenopausal Woman
Postmenopausal hyperandrogenism, a condition with symptoms like increased hair growth and acne, is usually caused by PCOS but can also be due to other factors. It's diagnosed by checking testosterone levels and treated either by removing the adrenal tumor or through antiandrogen therapy.
research Ornithine Decarboxylase Transgenic Mice as a Model for Human Atrichia with Papular Lesions
ODC transgenic mice can model human hair loss with skin lesions.
research Acne as a Chronic Systemic Disease
Acne is a chronic disease linked to various systemic conditions and has significant psychological and social effects.
research Pathogenesis and Causes of Hirsutism
Hirsutism is mainly caused by high androgen levels or sensitivity, with PCOS being the most common cause.
research Micro-Morphometric Study of Skin in Developing Human Fetuses and Its Clinical Relevance
Understanding fetal skin development helps diagnose congenital skin diseases.
research Eyelashes: Anatomical and Physiological Features, Eyelash Loss and Trichomegaly: Review
Eyelash loss can indicate various health issues, and excessive growth may be linked to certain conditions or medications; both require careful examination and tailored treatment.
research Hirsutism in Young Girls: Beyond PCOS
Hirsutism in young girls can have causes other than PCOS, so diagnoses should be reassessed if treatments don't work.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Temporal Triangular Alopecia
Temporal triangular alopecia is a lifelong condition with hairless patches on the side of the head that may be present from birth.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic Congenital Adrenal Hyperplasia
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
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 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 Hirsutism in Women: Causes, Diagnosis, and Treatment Options
Hirsutism in women is mostly caused by polycystic ovary syndrome and idiopathic hyperandrogenism.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research The Eye and the Skin in Endocrine Metabolic Diseases
Diabetes can lead to blindness and skin problems, and managing blood sugar and blood pressure is crucial to prevent these complications.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Sexual Function in Women with Androgen Excess Disorders: Classic Forms of Congenital Adrenal Hyperplasia and Polycystic Ovary Syndrome
Women with congenital adrenal hyperplasia (CAH) have more sexual function issues than those with polycystic ovary syndrome (PCOS), but physical activity can improve sexual functioning in all women.
research Measuring Steroids in Hair Opens Up Possibilities to Identify Congenital Adrenal Hyperplasia in Developing Countries
Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
research Hereditary, Congenital, and Acquired Alopecias in Dogs and Cats
The conclusion is that different types of hair loss in dogs and cats can be cosmetic or serious, and affected animals should not be bred.
research Congenital Triangular Alopecia (Brauer Nevus)
Congenital Triangular Alopecia is a rare, non-scarring hair loss that can be surgically treated in females for cosmetic reasons.
research Melanocyte Stem Cells: A Melanocyte Reservoir in Hair Follicles for Hair and Skin Pigmentation
Melanocyte stem cells in hair follicles are key for hair color and could help treat greying and pigment disorders.