Rare Diseases Symptoms Automatic Extraction

Familial inflammatory Sneddon's syndrome-case report and review of the literature.

[sneddon syndrome]

Sneddon's syndrome (SNS) which originally was a clinical diagnosis, is now regarded as a common clinical manifestation of different disease entities. It has been divided into idiopathic, autoimmune and thromboembolic subsets or in systemic lupus erythematosus (SLE)-associated, antiphospholipid syndrome (APS)-associated and primary forms. Familial occurrence of Sneddon's syndrome is rare. We present a familial case of Sneddon's syndrome with inflammatory disease pattern, early disease onset and association with autoimmune thyroid disease and anticardiolipin antibodies. Although most authors reporting on adult cases of SNS consider it a non-inflammatory, thromboembolic process, the study of cases with early onset brings attention to the possible inflammatory origin of the syndrome.

Diseases presenting "early onset" symptom

  • 22q11.2 deletion syndrome
  • alexander disease
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • canavan disease
  • coats disease
  • cohen syndrome
  • congenital diaphragmatic hernia
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • fabry disease
  • familial mediterranean fever
  • homocystinuria without methylmalonic aciduria
  • inclusion body myositis
  • kindler syndrome
  • krabbe disease
  • papillon-lefèvre syndrome
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • sneddon syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • werner syndrome
  • wolf-hirschhorn syndrome

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