research An Update on Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
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780-810 / 1000+ results research Role of FGFR2-Signaling in the Pathogenesis of Acne
Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
research Nonclassic Adrenal Hyperplasia: Clinical Features, Diagnosis, and Treatment
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Animal Models and Culture Methods in the Study of Hair Growth
The new microneedle method delivers hair loss treatment more effectively by enhancing growth pathways.
research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
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 Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Hairless Is a Nuclear Receptor Corepressor Essential for Skin Function
Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
research Basal Cell Carcinoma, Hedgehog Signaling, and Targeted Therapeutics: The Long and Winding Road
New treatments targeting the Hedgehog pathway can help treat advanced skin cancer but may have side effects and their effectiveness in early stages is unknown.
research A Woman With Iatrogenic Androgenetic Alopecia Responding To Finasteride
EF and PXE not closely related.
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 Deficient Anterior Pituitary With Common Variable Immune Deficiency (David Syndrome): A New Case and Literature Reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Buschke-Ollendorff Syndrome: Clinical Features and Genetic Insights
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research A Rare Case of Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Porokeratotic Adnexal Ostial Nevus: A Paradigm of Cutaneous Mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Deep Phenotyping of Patients with Xeroderma Pigmentosum and Trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research Melanocytes: The New Black
Melanocytes are crucial for skin pigmentation and can affect conditions like melanoma, vitiligo, and albinism, as well as hair color and hearing.
research Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research Non-Classic Congenital Adrenal Hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Asian Hair: A Review of Structures, Properties, and Distinctive Disorders
Asian hair is generally straight and thick, with unique disorders and properties, and more research is needed to understand it fully.
research Biochemical Features of Primary Cells from a Pediatric Patient with a Gain-of-Function ODC1 Genetic Mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
The study described a case of epidermolysis bullosa simplex (EBS) in a 39-year-old Syrian man, caused by a rare homozygous nonsense mutation in the DST gene, leading to a truncated BPAG1-e protein. This mutation resulted in an intermediate generalized phenotype with skin fragility, blistering, and prurigo papules, but did not affect hair, nails, or mucous membranes. Immunofluorescence and immunoblot analyses showed reduced expression and truncation of BPAG1-e, impairing its binding to intermediate filaments. The mutation might have led to increased expression of plectin and contributed to pruritus through up-regulation of proinflammatory cytokines. This case highlighted a novel phenotype linked to DST mutations, underscoring BPAG1-e's role in skin integrity and pruritus.
research The Hair Shaft: Normality, Abnormality, and Genetics
Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
research Deimination In Epidermal Barrier And Hair Formation
Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.