A child affected by a porphyria with cutaneous involvement may be misdiagnosed as experiencing child abuse.
Hepatoerythropoietic porphyria is the most likely cause because of its onset in early childhood. Other forms of cutaneous porphyria may occasionally present in childhood.
Reasons why child abuse may be suspected:
(1) Skin lesions resembling cigarette burns.
(2) Skin scars resembling a beating site.
(3) Inability of the parents to explain the skin lesions.
(4) Behavioral changes in the parents associated with the prophyria.
Misdiagnosis is more likely if:
(1) there is no family history of porphyria
(2) there are no neurovisceral complaints or history of acute attacks
(3) the distribution in sun-exposed skin is not recognized.
(4) the possibility of porphyria is not considered or adequately pursued
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Specialty: Clinical Laboratory, Emergency Medicine, Pedatrics