research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
Search
for
Sort by
Research
780-810 / 1000+ results
research Loose anagen hair syndrome: An unusual cause of alopecia in a child
Alopecia areata has different forms and can significantly affect quality of life, especially in more severe cases.
research A genome‐wide association study identified a genetic variant associated with hair thinning in Japanese women
A genetic variant linked to hair thinning in Japanese women was found.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Description and characterization of a hair coat disorder in schipperkes
The hair coat disorder in Schipperkes is similar to Alopecia X and involves increased androstenedione levels and hair cycle arrest.
research Koebnerization secondary to microblading
A woman developed vitiligo from repeated eyebrow microblading.
research Thyrotoxic hypokalemic periodic paralysis in a Brazilian male: a case report
Consider THPP in patients with muscle weakness and low potassium, as it is often underdiagnosed.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Chronic graft versus host disease and skin
cGVHD often severely affects the skin, causing rapid aging and other issues.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research Apparent Cortisone Reductase Deficiency: A Rare Cause of Hyperandrogenemia and Hypercortisolism
Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
research Alopecia Areata Universalis Precipitated by SARS-CoV-2 Vaccine: A Case Report and Narrative Review
The SARS-CoV-2 vaccine may be linked to triggering autoimmune conditions like Alopecia Areata.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review
IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
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 A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Acquired Progressive Kinking of the Hair: A Narrative Review of the Androgen‐Dependent Phenotype
APKH in young males may signal early hair loss and needs early attention.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Hirsutism as the initial presentation of malignant ovarian Leydig cell tumor: A case report
A woman's male-pattern facial hair growth was caused by a rare malignant ovarian tumor that was difficult to diagnose and treat.
research Aldosterone- and cortisol-cosecreting adrenal adenoma, ovarian hyperthecosis and breast cancer
The conclusion is that thorough investigation of hypertension and hormonal dysfunctions is important, and there may be a link between these conditions and cancer.
research Characterization of Human Keratin-Associated Protein 1 Family Members
Mutations in hKAP1 genes may cause hereditary hair disorders.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.