Degos-Touraine syndrome; malignant atrophic papulosis

Etiology

• genetic disease of complement

Epidemiology

• rare, 200 cases reported worldwide
• all ages affected

Pathology

• arteritis involving small-medium size arteries
• tissue ischemia & infarction
• initially involves skin
• occurs both in a limited benign, cutaneous form & in a potentially lethal multiorgan, systemic variant

Clinical manifestations

• skin lesions generally first manifestation
  • initially, erythematous, pink or red papules
  • papules heal leaving scars with pathognomonic, central, porcelain white atrophic centers
  • does not involve the face
• systemic manifestations usually develop weeks to years after onset of skin lesions
  • GI tract affected in 50%
    • intestinal perforation
  • central nervous system involved in 20%
  • systemic Degos disease is universally fatal

Complications

• intestinal perforation most common cause of death
• other causes of death include:
  • intestinal infarction
  • pleuropericardial pathology
  • stroke
  • hemorrhage Manangement:
• eculizumab

More general terms

• genetic syndrome (multisystem disorder)