Protoporphyria Clinical Presentation

Updated: Dec 18, 2019
  • Author: Jose A Plaza, MD; Chief Editor: William D James, MD  more...
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History

Skin manifestations after sunlight exposure typically begin during infancy or childhood, most often involving dorsal hands, the face and ears, and, occasionally, legs and dorsal feet, after short periods of exposure. If exposure is promptly discontinued, visible skin lesions may not ensue. Longer exposure, or multiple exposures on sequential days, can elicit swelling with or without redness in the exposed skin that evolves into sheets of petechiae. This exquisitely painful reaction resolves over several days to leave skin that may appear normal. The onset after sun exposure varies but may be within 10 minutes. Older children and adults, particularly those with darker skin, may handle being outdoors for an hour or more.

Patients with protoporphyria who report skin pain but have minimal findings may be considered malingerers until an acute reaction is observed. Gallstones may remain silent or evoke reports of indigestion and/or right upper quadrant abdominal pain consistent with symptomatic cholelithiasis. Individuals with protoporphyria associated with hepatotoxicity may report loss of appetite, nausea, vomiting, weakness and fatigue, anorexia, malaise, weight changes, increasing abdominal girth, abdominal pain, jaundice, and increasing photosensitivity.

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Physical Examination

The acute phototoxic reaction typically includes edema, erythema, and petechiae. Blisters, crusted erosions, and scarring may occur but are less florid and less frequent than in other porphyrias. Chronic changes include shallow, elongated depressions in facial skin, especially over the nose; perioral furrowing; and prematurely aged skin of the dorsal hands, often most prominent over the knuckles. In more severe cases, sclerodermalike waxy induration or a cobblestone texture of facial and hand skin may develop. Mechanical fragility, when present, is less severe than in other porphyrias; hypertrichosis is infrequent.

Some individuals with autosomal recessive (two deleterious FECH mutations) erythropoietic protoporphyria (EPP) exhibit palmar keratoderma that often worsens in summer and remits in winter. [43, 44] Neuropathy has been observed in some of these individuals, but not severe liver dysfunction, suggesting that protoporphyrin hepatotoxicity may be mitigated in this subset of recessive protoporphyria patients by efficient hepatobiliary protoporphyrin excretion mechanisms yet to be elucidated. [44]

With progressive liver dysfunction, hepatosplenomegaly and jaundice may develop, as may signs of increasing cutaneous photosensitivity. End-stage liver disease is signaled by intense jaundice, ascites, vomiting, fever, encephalopathy, axonal polyneuropathy that may progress to paresis and respiratory failure, hemorrhage from esophageal varices, and extreme photosensitivity.

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Complications

Severe neurological dysfunction (eg, encephalopathy, axonal polyneuropathy, respiratory failure) characteristic of acute porphyria attacks has been observed in patients with end-stage hepatic failure associated with erythropoietic protoporphyria (EPP). [45, 46, 47]

Pregnancy does not cause worsening of EPP; photosensitivity may actually improve during gestation. [37]

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