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enchondromatosis

Thursday 19 June 2003

osteochondromatosis, dyschondroplasia

Synopsis

- cartilagenous tumours (bone, trachea)

  • multiple osteochondromas(osteochondromatosis)
  • chondrosarcoma

- asymmetric tubular bone abnormality
- ovarian juvenile granulosa cell tumor (precocious pseudopuberty)

Types

- Ollier disease
- Maffucci disease

Etiology

- mutation in the PTH/PTHRP type I receptor (PTHR1; MIM.168468). The PTHR1 gene encodes a receptor for both parathyroid hormone (MIM.168450) and parathyroid hormone-related protein (MIM.168470)

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