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Description

A patient with a cutaneous porphyria may develop significant deformity in sun-exposed areas.


 

The cutaneous porphyries typically associated with photomutilation:

(1) congenital erythropoietic porphyria (CEP)

(2) hepatoertyropoietic porphyria (HEP)

 

Factors contributing to photomutilation:

(1) severe photosensitivity

(2) severe osteoporosis with fracture

 

Photomutilation may involve:

(1) facial lesions and scarring

(2) nasal deformity

(3) deformity of distal phalanges in the hands

(4) skin lesions and scarring in sun-exposed areas

(5) spinal and limb fractures with deformity

 


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