research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
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540-570 / 1000+ results 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.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Immunologic findings in central centrifugal cicatricial alopecia
CCCA may be caused by both hair traction and an immune response.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Exploring caspase functions in mouse models
Caspases affect many cell functions and could help treat various diseases.
research Acquired Hair Fragility in Pili anulati: Causal Relationship with Androgenetic Alopecia
Pili anulati may cause hair loss, proper diagnosis and treatment needed.
research Symptomatology of Long COVID Associated with Inherited and Acquired Thrombophilic Conditions: A Systematic Review
Thrombophilic conditions may worsen Long COVID symptoms due to increased blood clotting.
research Cedrol restricts the growth of colorectal cancer in vitro and in vivo by inducing cell cycle arrest and caspase-dependent apoptotic cell death
Cedrol may be an effective treatment for colorectal cancer.
research LEKTI: Netherton Syndrome and Atopic Dermatitis
LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research 8273 ACTH-Dependent Cushing's Syndrome due to Metastatic Cervical Cancer: A Case Report
Metastatic cervical cancer can cause rare, severe Cushing's syndrome with high risk of death.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Hyperaldosteronism and Hyperprogesteronism in a Cat
Cats with adrenal tumors may have both hyperaldosteronism and hyperprogesteronism.
research Constipation With AMA and ANA Positivity as an Atypical Manifestation of Celiac Disease: A Case Report
A strict gluten-free diet can improve liver issues in celiac disease.
research Central centrifugal cicatricial alopecia: challenges and solutions
The document concludes that better treatments for CCCA are needed and more research is required to understand its causes related to hairstyling and genetics.
research P‐59 Three cases of opportunistic dermatoses associated with internal diseases in cats
Cats with internal diseases can develop skin issues that may require specific treatments.
research Delayed epidermal permeability barrier formation and hair follicle aberrations in Inv-Cldn6 mice
Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
research Pituitary-dependent hyperadrenocorticism in a cat
The cat had a pituitary tumor causing hormone imbalance and related health issues.
research Lucio Phenomenon: Sequelae of Neglected Leprosy
Early diagnosis of leprosy is crucial to prevent disabilities and spread, even in non-endemic areas.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research Clinical factors and hair care practices influencing outcomes in Central Centrifugal Cicatricial Alopecia
Certain health conditions and hair care habits affect the treatment results for a scalp condition called Central Centrifugal Cicatricial Alopecia.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Persistent scurvy after vitamin C supplementation in a high-risk patient: a case report
Vitamin C deficiency can persist in high-risk patients despite supplementation.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
C-scores can help predict gain-of-function and loss-of-function mutations.