research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
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270-300 / 1000+ results research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research “Solitary fibrofolliculoma of the eyelid
A rare eyelid tumor was successfully diagnosed and removed, highlighting the need for careful examination.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research LP-155 Psychosis as an early manifestation of neuropsychiatric systemic lupus erythematosus – a case report
Psychosis can be an early sign of neuropsychiatric lupus, treatable with tailored medication.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research 1421 Primary cutaneous diffuse large B-cell lymphoma–leg type masquerading as a mucocele
An elderly woman's upper lip lump, thought to be a mucocele, was actually a rare type of lymphoma usually found on legs, treated successfully with chemotherapy and radiation.
research Lupus erythematosus tumidus (LET) with autoimmune thyroid dysfunction (AITD) as the first presentation of systemic lupus erythematosus: A case report and review of the literature
Recognizing LET and AITD can help diagnose SLE early for better treatment.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Bilateral Periorbital Erythema and Swelling as an Initial Presentation of Systemic Lupus Erythematosus: A Rare Case
Recognizing unusual symptoms can lead to early diagnosis and effective treatment of systemic lupus erythematosus.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research WHEN SILENCE TAKES OVER: A CASE OF CATATONIC SYNDROME REVEALING SYSTEMIC LUPUS ERYTHEMATOSUS
Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research Do you know this syndrome? * Você conhece esta síndrome? *
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
research Cutaneous lupus erythematosus: clinico-pathologic correlation
Cutaneous lupus erythematosus is a chronic skin disease that can progress to systemic lupus in some cases and requires treatment to prevent recurrences and scarring.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.