research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
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420-450 / 1000+ results research Vitamins and Alopecia
Vitamin deficiencies, especially biotin and vitamin D, can cause hair loss.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research Ichthyoses
Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Treatment of monilethrix with oral minoxidil
Oral minoxidil shows promise in treating monilethrix-related hair loss.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Acrodermatitis enteropathica in the pediatric population: a literature review of real-world studies
Zinc effectively treats most children with acrodermatitis enteropathica, but underlying metabolic issues may require additional management.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research The inheritance of common baldness: Two B or not two B ?
Common baldness is likely inherited through multiple genes, not just one.
research Genetic Basis of Male Pattern Baldness
Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Acquired Acrodermatitis Enteropathica in a 28-Year-Old Male with Type 1 Diabetes
A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation
TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research Stem Cell Therapies for Epidermolysis Bullosa Treatment
Stem cell therapies may help improve symptoms and quality of life for people with epidermolysis bullosa.
research De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks
Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
research Immunostaining study of cytokeratins in human hair follicle development
The study found that specific proteins are markers of hair follicle development in human fetuses.
research Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report
Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Skin Development and Disease: A Molecular Perspective
Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
research Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report
VKHD can include rare oral symptoms like discolored teeth.
research Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant
Zinc supplements effectively treat inherited zinc deficiency in infants.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.