A Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations.

A 27-year-old male patient was presented with foreign body sensation in both the eyes for 2 years duration and blisters followed by scarring and pigmentation in the photo-exposed areas of the body over the previous 12 years. His urine was reddish colored for the previous year. On examination, there was scarring, hyper-pigmentation of photo-exposed parts of the body along with resorption of the distal phalanges of fingers in both hands except the smallest digit which had onycholysis. Ocular examination indicated scleral necrosis in the interpalpebral areas in both eyes and bilateral dry eye. Hematological examination indicated a picture suggestive of hemolytic anemia. Abdominal ultrasonography indicated an enlarged spleen. These clinical features are suggestive of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations.

INTRODUCTION

Cutaneous porphyrias primarily affect areas of the skin that are exposed to the sunlight. Congenital erythropoietic porphyria (CEP) is a severe form of porphyria caused by a deficiency of the enzyme uroporphyrinogen III synthase (URO-synthase).1 CEP, an autosomal recessive disorder, is very rare, with approximately 200 cases reported over the recent past. Symptoms usually begin in infancy or in early childhood. Rarely (about 12 cases worldwide), CEP may begin in puberty.2 We present a very rare case of puberty onset CEP with ophthalmological manifestations.

CASE REPORT

A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits [Figure 1]. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory.

Figure 1

Photographs showing pinched up nose, scarring over lips and nose, mutilation of distal phalanges of all fingers except little fingers in both hands

The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement [Figures 2 and 3]. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye.

Figure 2

Left eye shows scleral necrosis in the interpalpebral area temporally more than nasally, nonphoto-exposed part of sclera and conjunctiva remains unaffected

Figure 3

Right eye shows sclera necrosis in the interpalpebral area both temporally and nasally with mild conjunctival scarring

These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia.

The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic.

DISCUSSION

The clinical symptoms of CEP are caused by a homozygous defect of the enzyme uroporphyrinogen III synthase which leads to severe anemia and accumulation of type I porphyrins such as uroporphyrin I and coproporphyrin I mainly in erythrocytes, skin, and teeth. Excessive amounts of these metabolites deposited in skin induce phototoxic, oxygen-dependent damage characterized by sub-epidermal blistering with severe inflammation and subsequent ulceration and scarring of all light exposed skin areas. This leads to severe mutilation of hands, fingers, and face, as seen in our case. Rarely, it can cause bilateral corneoscleral involvement.345 In our case, the patient has had bilateral scleral necrosis in the photo-exposed regions with some dry eye, likely due to conjunctival scarring associated to mucin deficiency, but overall the cornea was normal. Four cases reported in Germany had severe conjunctival scarring, eyelid scarring, and symblepharon.6 However, in our case; these signs were absent probably because our patient had puberty onset porphyria.

Our literature search indicated that there are no cases of puberty onset CEP with ophthalmic manifestations. Thus, it might be a rare differential diagnosis of scleral necrosis.

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Conflicts of interest

There are no conflicts of interest.