research For early diagnosis of young patients with Werner syndrome: Indication for genetic testing
Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
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360-390 / 1000+ results research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Penile Thread Tourniquet Syndrome: A Case Report and Review of Age-Related Variability
Awareness of Penile Thread Tourniquet Syndrome is crucial for preventing severe complications in children.
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.
research Monilethrix: the use of tricoscopy in clinical diagnosis
Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
research Pathological findings in a case of stiff person syndrome with anti‐GAD antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
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 Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research [Monilethrix--rare syndrome of structural hair abnormalities].
Monilethrix is a rare hair disorder causing beaded, fragile hair, often improving on its own over time.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research Trichorrhexis Invaginata and Netherton’s Syndrome
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research A case of familial trichomegaly with synophrys in association with loose anagen syndrome
A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
research Use of dermoscopy in the diagnosis of temporal triangular alopecia
Dermoscopy helps accurately diagnose temporal triangular alopecia, avoiding unnecessary treatments.
research The Rapunzel syndrome: is it an Asian problem? (case report and review of literature)
Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Strange cutaneous abnormalities and polyposis in an Asiatic man
A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
research 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation
Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
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 A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.