research Birt–Hogg–Dubé syndrome
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
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research Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Male fertility and skin diseases
Some skin diseases and their treatments can negatively affect male fertility.
research Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Genetics and Epigenetics of Polycystic Ovary Syndrome
Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
research Adrenal causes of endocrine hypertension in childhood or adolescence
Adrenal disorders often cause high blood pressure in young people.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Vitiligo
Vitiligo causes white skin patches and is linked to autoimmune issues.
research Skin Manifestations in Primary Immunodeficient Children
Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.
research Regulatory T cells in dominant immunologic tolerance
Regulatory T cells help prevent autoimmunity and have potential for treating autoimmune diseases.
research Central Centrifugal Cicatricial Alopecia in the Adolescent Population: An Overview of Available Literature
CCCA affects adolescents too, with genetic and environmental links, requiring careful diagnosis.
research Skin Development and Disease: A Molecular Perspective
Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
research Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases
PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.
research SCALP HAIR CHARACTERISTICS IN THE NEWBORN INFANT
Assessing newborn scalp hair can reveal important health information.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Assessment of scalp hair survivin in patients with premature greying of hair
Examining Survivin levels may help understand premature greying of hair.
research Urticaria, Drug Hypersensitivity Rashes, Nodules and Tumors, and Atrophic Diseases
The document concludes that various skin conditions have specific treatments, ranging from antihistamines for urticaria to surgery and medication for tumors and chronic skin diseases.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Commentary 2
Genetic factors play a major role in acne.
research To grow or not to grow: Hair morphogenesis and human genetic hair disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research The genetics of hair shaft disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.