Mutilating congenital erythropoeitic porphyria with blindness in a farmer.

Sir,

Congenital erythropoeitic porphyria (CEP) is a rare autosomal recessive syndrome in which from infancy there is severe mutilating photosensitivity, hemolytic anemia, splenomegaly and a decreased life expectancy. The primary defect is a deficiency of uroporphyrinogen III synthetase, the fourth enzyme in heme biosynthetic pathway. We report an adult Indian patient of CEP presenting with photosensitivity, severe acral mutilation and blindness.

A 40-year-old blind farmer had been having recurrent painful blistering over sun-exposed areas since childhood. Gradually, there was mutilation of ears, hands and feet with autoamputation of several fingers and toes. He had photophobia with slowly progressive diminution in visual acuity leading to complete blindness for last 10 years. The blistering and photosensitivity became less pronounced but he continued to develop multiple painful ulcers off and on over extremities. He also had history of passing reddish brown urine since childhood. History of consanguinity in parents could not be recalled by the patient but his two brothers and two sisters died in childhood due to severe cutaneous blistering and probably had a similar disorder. An elder live female sibling is unaffected.

On examination, the patient appeared pale, emaciated and had phthisis bulbi of both eyes. Teeth were discolored and fluoresced pink under Wood's lamp. He had hypertrichosis over face and upper limbs. Multiple hypopigmented atrophic scars were present over scalp, face, presternal region, and extremities. There was mutilation of ears, nose, hands and feet with loss of right thumb, left little finger, right and left 5th toes [Figure 1]. Scalp showed cicatricial alopecia. There were multiple ulcers over extremities. Systemic examination revealed significant splenomegaly. Clinical diagnosis of CEP was made. On investigations, his hemoglobin was 7 g%, total lymphocyte count (TLC) was 4200/mm3, erythrocyte sedimentation rate (ESR) was 40 mm/1st hour and peripheral blood smear was suggestive of hemolytic anemia. His liver and renal function tests were normal. Urine was reddish brown clinically, while on Wood's lamp examination, reddish pink fluorescence was seen. Blood level of uroporphyrin was 250 µg/100 ml (normal value 0–2 µg/100 ml) and urinary uroporphyrin and porphobilinogen were 160 µg/24 hours (normal value <40 µg/24 hours) and 500 µg/24 hours (normal value <1500 µg/24 hours), respectively. USG abdomen showed splenomegaly. X-ray of hands and feet showed resorption corresponding to clinical absence of digits and diffuse osteoporosis. The patient was treated symptomatically and is under regular follow-up.

Figure 1

Clinical photograph showing emaciated male with mutilation and scarring of face and extremities

Among the cutaneous porphyrias, Porphyria Cutanea Tarda (PCT) is thought to be the commonest though the exact prevalence in the country is unknown.[1] CEP is a very rare disorder. Most of the recent articles in the literature have quoted a figure of 200 cases worldwide, some mentioning 1992 as the cut-off year.[2] We have found at least 25 more case reports of CEP up to 2008. The disorder has been reported sporadically from all parts of India. Our case had most of the classical cutaneous findings seen in CEP. Other findings also seen in our patient included eye changes (photophobia and complete loss of vision), erythrodontia (virtually pathognomic of CEP), splenomegaly and hemolytic anemia. CEP is associated with decreased life expectancy and only a few adult patients are reported.[3-5] Our patient survived up to middle age despite severe mutilation, repeated infections and complete blindness. Only one previous case of complete visual loss has been reported in an Indian patient to the best of our knowledge.[6] Lack of early diagnosis in our patient led him to continue in an occupation of farming where sun exposure is pronounced. This may have aggravated his mutilation and led to early blindness. Hence, early diagnosis is important in such cases to prevent or reduce morbidity.