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.
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research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research EFLÚVIO TELÓGENO E ALOPECIA AREATA ASSOCIADOS AO COVID-19
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research Dermoscopy and Ultraviolet-Enhanced Fluorescence Dermoscopy (UEFD) Increase the Accuracy of Diagnosis and Are Useful in Assessing the Effectiveness of Kerion celsi Treatment
Advanced dermoscopy techniques improve diagnosis and treatment monitoring for Kerion celsi but don't guarantee full hair regrowth.
research Referee report. For: Case Report: Tuberculosis lymphadenitis with systemic lupus erythematosus in a young woman: a case report [version 2; peer review: 1 approved, 1 approved with reservations, 1 not approved]
TB lymphadenitis can occur in people with weakened immune systems, like those with SLE.
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 [Complete loss of hair; treatment with intravenous calcium with vitamin C].
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.