Year : 2005 | Volume
: 50 | Issue : 3 | Page : 155--157
Congenital erythropoietic porphyria with hemolytic anemia
Qazi Ahmad Massod, Iffat Hassan, Dilshad Khan, Farah Sameem, M Ismail Quadri, S Tafazul Hussain, Sabiya Majid
Department of Dermatology,STD and Leprosy, Government Medical College and Associated SMHS Hospital, Srinagar, India
Qazi Ahmad Massod
House No.214, Gole Market Karanagar, Srinagar-Kashmir(J&K)
A 15 year old boy with clinical, hematological and biochemical profile of congenital erythropoietic porphyria with hemolytic anemia is being reported in view of the rarity of this condition.
|How to cite this article:|
Massod QA, Hassan I, Khan D, Sameem F, Quadri M I, Hussain S T, Majid S. Congenital erythropoietic porphyria with hemolytic anemia.Indian J Dermatol 2005;50:155-157
|How to cite this URL:|
Massod QA, Hassan I, Khan D, Sameem F, Quadri M I, Hussain S T, Majid S. Congenital erythropoietic porphyria with hemolytic anemia. Indian J Dermatol [serial online] 2005 [cited 2020 Aug 12 ];50:155-157
Available from: http://www.e-ijd.org/text.asp?2005/50/3/155/18931
Congenital erythropoietic porphyria also known as Gunther's disease is a type of erythropoietic porphyria which is inherited as an autosomal recessive disorder. In this disorder of hem biosynthesis, the enzyme Uroporphyrinogen III cosynthetase is deficient in the bone marrow. The characteristic clinical features include extreme photosensitivity, blistering, scarring, milia formation and hypo-and hyperpigmentation of the photo-exposed areas.Woods lamp examination shows pink-red fluorescence of teeth, urine,b1ood and feces. Hemolytic anemia with splenomegaly, acro-osteolysis and retarded growth may be present.- We are reporting a patient of congenital erythropoetic porphyria with hemolytic anemia in a Kashmiri boy.
A fifteen year old boy, product of a consanguineus marriage, fifth in the birth order with normal siblings, presented to us with a history of blisters over face,hands and feet on exposure to sunlight since the age of one and a half years. The patient was born of a full-term normal home delivery and his parents noticed that his urine was of a dark red color since birth. There was no history of convulsions, acute abdominal pain or joint pain. General physical examination revealed a growth retarded boy with height and weight below the average for age and yet to attain puberty. The patient had pallor, icterus and his teeth had a brown discoloration. Systemic examination revealed hepatosplenomegaly which was confirmed on ultrasonography. Rest of the systemic examination was non-contributory. On cutaneous examination, hypertrichosis was present on the face along with blisters on face, ears and hands. In addition to this, milia, hyper and hypopigmentation and residual atrophic scars were also present on the face [Figure 1]. The patient had short stubby fingers with mutilation. Radiographic examination of the hands showed acral osteolysis. Ophthalmological examination revealed scleromalacia with corneal involvement of his left eye for which vitamin A injections were given with a good response. Routine laboratory investigations revealed low packed cell volume .The reticulocyte count was 4% and osmotic fragility of the red cells was increased. Peripheral blood film examination revealed mild anisocytosis, polychromasia, basophilic stippling and nucleated RBC 4/100 WBC. Platelets and WBC were normal. Liver function tests showed an elevated serum bilirubin and raised alkaline phosphatase levels.Under Wood's lamp there was a bright pink fluorescence in the teeth, urine [Figure 2], blood [Figure 3] and feces. Erythropoietic protoporphyria was ruled out on the basis of biochemical methods as there was fluorescence in urine under Woods lamp. In our setup,we tried to differentiate between congenital erythropoeitic porphria(CEP) and hepato-erythropoietic porphyria(HEP) by separating out the porphyrins (uroporphyrins,coproporphyrins and protoporphyrins) in the erythrocytes by the method of Remington ( as modified by Moore) as in CEP,uroporphyrins and coproporphyrins will be raised and in HEP,Zn proto-porphyrins will be raised. In our patient,there were elevated levels of both uroporphyrins and coproporphyrins in the erythrocytes suggesting a diagnosis of congenital erythropoeitic porphyria. Still hepato-erythropoietic porphyria cannot be ruled out unless being confirmed by the absence of
7-carboxylate porphyrins in urine and isocoproporphyrins in stool by high pressure liquid chromatography (HPLC).
High pressure liquid chromatography was not possible in our patient because of cost considerations.The patient was put on topical sunscreens and beta-carotene and is on regular follow-up.
Congenital erythropoietic porphyria or Gunther's disease is a rare autosomal recessively inherited erythropoietic porphyria occurring due to deficiency of the enzyme uroporphyrinogen III cosynthase in the bone marrow.
In this disorder of hem biosynthesis patients have elevated levels of uroporphyrin I and coproporphyrin I in the erythrocytes.The clinical features include extreme photosensitivity either from birth or with a delayed onset leading to erythema, edema and blisters on the photo-exposed parts.The lesions heal over time with scarring,milia,hypo and hyperpigmentation. Repeated episodes of blistering result in mutiliation of ears, nose and hands.Hypertrichosis is also present.There is passage of port-wine coloured urine since birth.As the porphyrins within the RBCs in the cutaneus microvasculature are exposed to light,hemolytic anemia can occur.This may be severe enough to lead to gallstones, splenomegaly, acroosteolysis, osteopenia and compression fractures.The patients may have ophthalmological changes in the form of photophobia, kerato-conjunctivitis, ectropion, symblepharon and loss of vision. Erythrodontia is characteristic.The typical biochemical findings include elevated levels of uroporphyrin in urine with levels even upto sixty times the normal .Coproporphyrin I is also present in urine and excreted in large amounts in feces.Histopathology of bulla shows sub epidermal separation with minimal inflammation.Thickening of collagen bundles may be seen with areas of scarring.Treatment includes symptomatic measures in the form of sun protection, betacarotene and also splenectomy for intractable hemolytic anemia. Transfusion of erythrocytes, intravenous hematin and oral activated charcoal,bone marrow transplant and gene therapy is also advocated.The two main differential diagnosis are hepatic erythropoietic porphyria and erythropoietic protoporphyria in mild cases.,-
In our patient,a childhood history of photosensitivity and passage of dark red colored urine was followed by stunted growth, delayed puberty, hypertrichosis of face with milia,scarring and pigmentation of face.The patient had discolored teeth with erythrodontia on Woods lamp fluorescence. He had a positive bright pink fluorescence in blood, urine and feces. He had a hemolytic anemia with reduced osmotic fragility and splenomegaly with acro-osteolysis. He also had scleromalacia of his eye.The levels of uroporphyrins and coproporphyrins in the erythrocytes were high as detected by the method of Remington(modified by Moore). With the above mentioned constellation of clinical, hematological and biochemical features,a final diagnosis of congenital erythropoietic porphyria with hemolytic anemia was entertained and is being reported in view of the rarity of this condition.
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