CONGENITAL ERYTHROPOIETIC PORPHYRIA: A CASE REPORT

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KHORASANI E.

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Journal Paper

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Journal: Journal of Sabzevar University of Medical Sciences Year:2004 | Volume:11 | Issue:3 (33) Page(s): 60-67

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Title

CONGENITAL ERYTHROPOIETIC PORPHYRIA: A CASE REPORT

Author(s)

KHORASANI E. | Issue Writer Certificate

Keywords

CONGENITAL ERYTHROPOIETIC PORPHYRIA

GUNTHER'S DISEASE

UROPORPHYRINOGEN LLL COSYNTHASE

PORPHYRIN

Abstract

CONGENITAL ERYTHROPOIETIC PORPHYRIA (CEP) is a rare autosomal recessive disorder of the porphyria metabolism caused by the homozygous defect of uroporphyrinogen 111 cosynthase. We report a two-year old case with typical features of Congenital Erythropoietic Porhyria (CEP), living in Mashhad and his parents are close relatives. The disease was first manifested in infancy with muscle cramping of limb (pseudoseizure) and severe mutilating cutaneous photosensitivity eventually developed. Other signs like red urine, generalized vesicles and bullae (photosensitive lesions), red fluorescent teeth, splenomegally, and anemia gradually emerged. Laboratory findings indicated a large amount of PORPHYRINs in urine analysis. The main histopathologic changes of CEP are dermal infiltrate with nonacantholytic subepidermal bullae. Histochemical examination showed deposition of PAS Positive material in a periveascular distribution.

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APA: Copy

KHORASANI, E.. (2004). CONGENITAL ERYTHROPOIETIC PORPHYRIA: A CASE REPORT. JOURNAL OF SABZEVAR UNIVERSITY OF MEDICAL SCIENCES, 11(3 (33)), 60-67. SID. https://sid.ir/paper/532469/en

Vancouver: Copy

KHORASANI E.. CONGENITAL ERYTHROPOIETIC PORPHYRIA: A CASE REPORT. JOURNAL OF SABZEVAR UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2004;11(3 (33)):60-67. Available from: https://sid.ir/paper/532469/en

IEEE: Copy

E. KHORASANI, “CONGENITAL ERYTHROPOIETIC PORPHYRIA: A CASE REPORT,” JOURNAL OF SABZEVAR UNIVERSITY OF MEDICAL SCIENCES, vol. 11, no. 3 (33), pp. 60–67, 2004, [Online]. Available: https://sid.ir/paper/532469/en

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