research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
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research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research BIPHENOTYPIC LEUKAEMIA
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
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 Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research Diffuse plate-like sheets of desquamation
The rash resolved after stopping ponatinib.
research Decision letter: Interplay of opposing fate choices stalls oncogenic growth in murine skin epithelium
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Unusual Clinical Presentation of a Primary Cutaneous Follicle Center Lymphoma on the Scalp of a Middle-Aged Female: Case Report and Review of the Literature
A woman with a rare scalp lymphoma had unusual hair loss after treatment.
research 0750 Proteomics and transcriptomics profiling define molecular subtypes of advanced cutaneous T cell lymphoma and prognostic biomarkers
Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research EP06 Successful treatment of alopecia universalis with rituximab therapy
Rituximab therapy successfully treated a patient's complete body hair loss and was effective for six years.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Baricitinib-Induced Remission of Alopecia Universalis in a Child with NFKB2-Associated Immune Dysregulation
research Proteomic Profiling of Central Centrifugal Cicatricial Alopecia Reveals Role of Humoral Immune Response Pathway and Metabolic Dysregulation
CCCA involves immune response and metabolism issues, suggesting new treatment options.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Pediatric Clinical Trial Program in Progress: A Phase 3 Study and Long-term Extension Study to Evaluate the Efficacy and Safety of Ritlecitinib in Children 6 to <12 years of Age With Severe Alopecia Areata
Ritlecitinib is being tested for safety and effectiveness in young children with severe alopecia areata.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Mixed Connective Tissue Disease (MCTD) in a Girl with Lower Extremities Edema: A Brief Report
MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
research Progressively intractable seizures, focal alopecia, and hemimegalencephaly
The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.