research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
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480-510 / 1000+ resultsresearch Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research FilaggrinHigh melanomas exhibit active FGFR and allergic signatures with impaired GNA14 and Th1 signatures
FilaggrinHigh melanomas have active FGFR signaling and weak GNA14 and Th1 signatures.
research Pediatric adrenocortical carcinoma complicated by uric acid nephrolithiasis: a unique case report
Thorough evaluations and conservative management can lead to positive outcomes in pediatric adrenocortical carcinoma.
research Trachyonychia with juvenile pityriasis rubra pilaris
A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Trichodysplasia spinulosa associated with chemotherapy for acute lymphocytic leukaemia
Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
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 A functional study of a case of glucagonoma exhibiting typical glucagonoma syndrome
A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research An unusual variant of granulomatous adnexotropic cutaneous T-cell lymphoma
A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research LP-161 Tjalma syndrome (Pseudo-Pseudo Meigs Syndrome): polyserositis with increased CA-125 in patients with systemic lupus erythematosus
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
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 P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Thrombophilia and Polycythemia in a Woman With Budd-Chiari Syndrome
A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.