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Related Concept Videos

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Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Published on: August 24, 2013

Morbihan disease.

Stephanie W Hu1, Maria Robinson, Shane A Meehan

  • 1The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, USA.

Dermatology Online Journal
|January 5, 2013
PubMed
Summary
This summary is machine-generated.

Morbihan disease, a rare complication of rosacea causing facial swelling, presents challenges in diagnosis and treatment. This case highlights isotretinoin as a potential therapy for this persistent skin condition.

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Area of Science:

  • Dermatology
  • Cutaneous Medicine

Background:

  • Morbihan disease is a rare, chronic solid facial edema complication of rosacea.
  • It is characterized by a typical clinical presentation but lacks specific diagnostic markers.
  • The condition is often refractory to conventional treatments.

Observation:

  • A 54-year-old man presented with a two-year history of facial erythema and edema, particularly around the eyes.
  • Patch testing ruled out allergic contact dermatitis.
  • Histopathology revealed sarcoidal granulomata in the dermis.

Findings:

  • The clinical and histopathological findings supported a diagnosis of Morbihan disease.
  • The patient had previously failed treatment with minocycline.
  • Gradually increasing doses of isotretinoin led to clinical improvement.

Implications:

  • This case underscores the diagnostic challenges of Morbihan disease.
  • Isotretinoin shows promise as an effective treatment option for refractory cases.
  • Further research into Morbihan disease pathogenesis and treatment is warranted.