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Mutilating congenital erythropoeitic porphyria with blindness in a farmer.

D'souza P, Dhamija A, Salgia P, Kothiwala RK - Indian J Dermatol (2011)

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Venereology & Leprosy, J.L.N. Medical College & Hospital, Ajmer, India. E-mail: ashudhamija1@gmail.com.

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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... We report an adult Indian patient of CEP presenting with photosensitivity, severe acral mutilation and blindness... 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... There were multiple ulcers over extremities... Systemic examination revealed significant splenomegaly... Most of the recent articles in the literature have quoted a figure of 200 cases worldwide, some mentioning 1992 as the cut-off year... We have found at least 25 more case reports of CEP up to 2008... 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... 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... This may have aggravated his mutilation and led to early blindness... Hence, early diagnosis is important in such cases to prevent or reduce morbidity.

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Clinical photograph showing emaciated male with mutilation and scarring of face and extremities
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Figure 1: Clinical photograph showing emaciated male with mutilation and scarring of face and extremities

Mentions: 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.


Mutilating congenital erythropoeitic porphyria with blindness in a farmer.

D'souza P, Dhamija A, Salgia P, Kothiwala RK - Indian J Dermatol (2011)

Clinical photograph showing emaciated male with mutilation and scarring of face and extremities
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3108541&req=5

Figure 1: Clinical photograph showing emaciated male with mutilation and scarring of face and extremities
Mentions: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Venereology & Leprosy, J.L.N. Medical College & Hospital, Ajmer, India. E-mail: ashudhamija1@gmail.com.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

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... We report an adult Indian patient of CEP presenting with photosensitivity, severe acral mutilation and blindness... 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... There were multiple ulcers over extremities... Systemic examination revealed significant splenomegaly... Most of the recent articles in the literature have quoted a figure of 200 cases worldwide, some mentioning 1992 as the cut-off year... We have found at least 25 more case reports of CEP up to 2008... 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... 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... This may have aggravated his mutilation and led to early blindness... Hence, early diagnosis is important in such cases to prevent or reduce morbidity.

No MeSH data available.


Related in: MedlinePlus