research Cystathionine Beta-Synthase-Deficient Mice Thrive on a Low-Methionine Diet
Mice with CBS deficiency are healthier on a low-methionine diet.
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research The Evaluation and Treatment of Androgen Excess
High androgen levels can cause excessive hair growth and may indicate serious health issues, including heart disease and fertility problems.
research Longitudinal Clinical Course in Patients With 5α-Reductase Type 2 Deficiency Treated With Testosterone and Dihydrotestosterone During Infancy and Puberty
Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
research A Recently Characterized, Underdiagnosed Cause of Female Androgenetic Alopecia and Polycystic Ovarian Syndrome: Non-Classical 21 Hydroxylase Deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research Successful Induction of Oral Tolerance in Netherton Syndrome
A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Westwood Carolina Conference on Clinical Dermatology
The conference concluded that understanding hair and nail disorders is important, iron deficiency may be linked to hair loss, and while some treatments for skin conditions are effective, they may have risks and high costs.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
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 Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research An Adolescent Girl Presenting With Primary Amenorrhea: A Case Report of Complete Androgen Insensitivity Syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research A Distinct Gene Close to the Hairless Locus on Chromosome 8p Underlies Hereditary Marie Unna Type Hypotrichosis in a German Family
A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
research Werner's Syndrome: Incidental Finding During Pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research Madarosis
Madarosis is the loss of eyelashes and eyebrows due to various health issues and requires thorough examination to diagnose and treat the underlying cause.
research Zinc Deficiency and Its Management in the Pediatric Population: A Literature Review and Proposed Etiologic Classification
Zinc deficiency in children can cause skin issues and can be serious if not diagnosed and treated properly.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Congenital Adrenal Hyperplasia: A Detailed Review of 21-Hydroxylase Deficiency
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Lab Quality Management and Methodology
Men with early balding should be checked for metabolic syndrome, as there's a link between the two.
research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Regional Dermatology: Hair and Nail Biology, Hair Loss Conditions, and Dermatological Issues of the Mouth and Genital Regions
The document explains hair and nail biology, common hair loss conditions and treatments, oral and genital skin diseases, and the risks and treatments associated with squamous cell carcinoma.
research Acne Tarda and Male-Pattern Baldness Unmasking Primary Ovarian Insufficiency: A Case and Review
A woman with acne and baldness was found to have a rare ovarian condition but successfully had a child through fertility treatment.
research Molecular Evolution of HR, a Gene That Regulates the Postnatal Cycle of the Hair Follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Pathophysiology, Diagnosis, and Treatment
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
research Endocrine Evaluation of Hirsutism
Hirsutism, excessive hair growth in women, is often caused by PCOS and can be managed with medication and personalized treatment plans.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Polycystic Ovary Syndrome and Its Differential Diagnosis
The document concludes that correct diagnosis and management of PCOS are important, and more research is needed on its risks and treatments.
research A Review of the Use of Biotin for Hair Loss
Biotin supplements may improve hair and nail growth in people with certain deficiencies or conditions, but there's not enough evidence to recommend it for healthy individuals.
research Hair Loss: A Harbinger of Morbidities to Come
Early hair loss in men and women may indicate a higher risk of heart disease and metabolic problems.