Ochronosis

Ochronosis (alkaptonuria) is an inherited disease of the metabolism in which a step in tyrosine metabolism is disturbed, resulting in accumulation of homogentisic acid in a variety of places, but especially in the cartilages. The substance is colourless in the urine when first passed, but darkens to a black or brown polymer on standing. The disease is inherited as an autosomal recessive.

In the external ear there may be one or both of two manifestations: (a) dark colour of the wax; when seen in a child this may be the first manifestation of ochro-nosis; (b) dark colour of the aural cartilage due to the binding of the homogentisic acid to the cartilage ground substance.

Fig. 8.2. Idiopathic pseudocystic chondromalacia of the cartilage of the auricle. Note the cystic cavity in the cartilage lined with degenerated cartilage that has lost its elastic tissue. Normal elastic tissue is present further away from the pseudocyst at the left hand corner. Reproduced from Michaels and Hellquist [68]

Fig. 8.2. Idiopathic pseudocystic chondromalacia of the cartilage of the auricle. Note the cystic cavity in the cartilage lined with degenerated cartilage that has lost its elastic tissue. Normal elastic tissue is present further away from the pseudocyst at the left hand corner. Reproduced from Michaels and Hellquist [68]

8.2.2 Pseudocystic and Cystic Lesions

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