research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.
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research Alopecia universalis and Kallman’s Syndrome
A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
research Clinical case of Vogt–Koyanagi–Harada syndrome
Early treatment with corticosteroids improved her eye condition significantly.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
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 Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research Argyria in a patient with a delusional disorder
A man with a mental disorder turned his skin blue-gray by drinking silver to treat warts.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research A case of cutis verticis gyrata developing in a patient with primary scarring alopecia: A unique presentation of a rare disorder
A rare scalp condition, cutis verticis gyrata, was found in a woman with primary scarring alopecia.
research The Rotterdam Study: objectives and design update
The Rotterdam Study investigates diseases in older adults and has produced many research findings.
research Lgr5 marks cycling, yet long-lived, hair follicle stem cells
Lgr5 is a marker for active, long-lasting stem cells in mouse hair follicles.
research Finasteride in the treatment of men with androgenetic alopecia
Finasteride safely and effectively treats male pattern hair loss, but may cause reversible sexual issues and harm male fetuses.
research Proteasome Inhibitors: An Expanding Army Attacking a Unique Target
Proteasome inhibitors are promising treatments for various cancers, autoimmune diseases, and other conditions.
research The Rotterdam Study: 2018 update on objectives, design and main results
The Rotterdam Study updated findings on elderly health, focusing on heart disease, genetics, lifestyle effects, and disease understanding.
research Droplet microfluidics: A tool for biology, chemistry and nanotechnology
Droplet microfluidics improves efficiency and control in chemistry, biology, and nanotechnology.
research Calreticulin: non‐endoplasmic reticulum functions in physiology and disease
Calreticulin has roles in healing, immune response, and disease beyond its known functions in the endoplasmic reticulum.
research The Rotterdam Study: 2016 objectives and design update
The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
research The Rotterdam Study: 2014 objectives and design update
The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
research The Rotterdam Study: 2012 objectives and design update
The Rotterdam Study updated its design and objectives in 2012, providing insights into various diseases in the elderly, including skin cancer, bone health, liver disease, neurological and psychiatric conditions, and respiratory issues.
research The Rotterdam Study: 2010 objectives and design update
The Rotterdam Study aims to understand various diseases in older adults.
research European Society of Endocrinology Clinical Practice Guideline: Endocrine work-up in obesity
Test thyroid function in all obese patients and prioritize weight loss for hormonal balance.
research Juvenile versus maturity-onset alopecia areata- a comparative retrospective clinical study
Juvenile alopecia areata is more severe and has a worse prognosis than maturity-onset alopecia areata.
research Determinants of hair cortisol and hair cortisone concentrations in adults
Hair cortisol and cortisone levels increase with age, are higher in diabetics, vary by gender, decrease with frequent hair washing, and are lower in winter.
research Hair cycle and hair pigmentation: dynamic interactions and changes associated with aging
As people age, their hair follicles produce less pigment, leading to gray and white hair, due to factors like reduced enzyme activity and damage to melanocyte DNA.