Rare Diseases Symptoms Automatic Extraction

An atypical paediatric case of malignant atrophic papulosis (Köhlmeier-Degos disease).

[malignant atrophic papulosis]

A new case of malignant atrophic papulosis (Köhlmeier-Degos disease) is reported. Vascular symptoms began at 17 months of age with cerebral ischaemia and progressive involvement of fingers and toes with torpid ulcers and apical necrotic amputations. At 6 years of age he developed chronic intestinal ischaemia with malabsorption and a new cerebral attack; in spite of anti-aggregant therapy the disease progressed and he died 7 months after diagnosis from a third cerebral ictus. Since the typical skin lesions of the disease were absent, the diagnosis was made on the basis of a pathological pattern of an occluded biopsied artery. The elder brother presents clinical and instrumental vascular involvement without cutaneous lesions and could be slightly affected.

Diseases presenting "cutaneous lesions" symptom

  • child syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dystrophic epidermolysis bullosa
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • inclusion body myositis
  • lamellar ichthyosis
  • malignant atrophic papulosis
  • papillon-lefèvre syndrome
  • systemic capillary leak syndrome

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