research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
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research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research Clinical Snippets
Topical Imiquimod may fight vascular tumors by affecting blood vessels or the immune system, low iron might be linked to some hair loss, removing the top skin layer helps vitamin C get in, genetic testing helps diagnose skin conditions, and too much iron could worsen skin inflammation.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research Generalized Congenital Hypotrichosis in a Female Rottweiler
A female Rottweiler had a rare genetic condition causing mostly hairless skin.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Lymphoproliferative Disorders: Hot Topics in Dermatology 2019
The document updated knowledge on skin disorders, focusing on unusual moles in older adults, the progression from moles to melanoma, and evolving hair loss treatments.
research Skin Development and Disease: A Molecular Perspective
Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
research Hair shaft structures in EDAR induced ectodermal dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
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 Molecular basis of hypohidrotic ectodermal dysplasia: an update
Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Common genetic hair shaft abnormalities may be visualized by light and electron microscope
Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
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 Photobiomodulation as a treatment in dogs with black hair follicular dysplasia
Photobiomodulation effectively treats hair loss in dogs with black hair follicular dysplasia.
research Use of genetics in the prediction of success in male pattern hair loss therapy and mechanistic studies
Genetics can help tailor treatments for male pattern hair loss, improving outcomes like stabilization or modest regrowth.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Molecular Genetic and Endocrine Mechanisms of Hair Growth
Hormones and their receptors, especially androgens, play a key role in hair growth and disorders like baldness.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
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 Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
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 Trichoscopy in genetic hair shaft abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.