research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
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research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Hair Shaft Abnormalities: Clues to Diagnosis and Treatment
Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Erythrokeratodermia Variabilis in a 4-Year-Old Girl with Erythematous, Hyperkeratotic Skin Lesions
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
research Protoporphyrin IX: The Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Structural Abnormalities of the Hair Shaft
The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Short Anagen Syndrome
Short anagen syndrome involves a hair growth phase lasting 1.5 years.
research FOXN1 Deficiency: From the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research Inherited Epidermolysis Bullosa: Clinical and Therapeutic Aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
research Acanthosis Nigricans and the Metabolic Syndrome
Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.
research Keratin and Skin Disorders
Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–Like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research Secondary Cicatricial and Other Permanent Alopecias
The document says that treating the root cause of hair follicle damage is crucial to prevent permanent hair loss, and treatment options vary.
research Insertional Mutation of the Hairless Locus on Mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Rhombencephalosynapsis Presenting Antenatally with Ventriculomegaly/Hydrocephalus in a Likely Case of Gomez–López-Hernández Syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Addisonian Crisis in a Young Man with Atypical Anorexia Nervosa
A young man with an eating disorder had a life-threatening adrenal crisis due to an autoimmune condition, highlighting the need for better education on managing hormone treatments.
research Male Fertility and Skin Diseases
Some skin diseases and their treatments can negatively affect male fertility.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
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 Alopecia in Children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research Disorders of the Hair and Nails
The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
research The Cat With Alopecia
Cats lose fur due to various reasons, including allergies, infections, genetics, hormones, diet, cancer, stress, and some conditions are treatable while others are not.
research Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.