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Congenital erythropoietic porphyria (cep) : a report of two female siblings
Other Title(s)
بورفيرا تكون الكريات الحمر الولادية : تقرير عن حالتين
Source
Journal of the Arab Board of Health Specializations
Issue
Vol. 1, Issue 2 (30 Apr. 1999), pp.62-65, 4 p.
Publisher
The Arab Board of Health Specializations
Publication Date
1999-04-30
Country of Publication
Syria
No. of Pages
4
Main Subjects
Abstract EN
Congenital erythropoietic porphyria (CEP) is a rare inherited condition.
Two sisters with this disease, 12 and 4 years of age, presented with discoloration of the teeth and hyperpigmentation of the sun exposed areas of the skin.
Hypertrichosis, vesicular rash, mutilation of the finger tips, and splenomegaly were also observed.
Both passed red urine which was positive for uroporphyrin I under UV light.
The diagnosis was confirmed with high levels of uroporphyrins and coproporphyrins in a 24 hour specimen.
Interestingly, there is no known family history of this disorder.
These are the first cases of CEP recorded in Sudan.
The symptoms improved significantly with avoidance of exposure to sunlight.
American Psychological Association (APA)
Muhamidani, Ahmad Abd Allah& El Mukashfie, S.. 1999. Congenital erythropoietic porphyria (cep) : a report of two female siblings. Journal of the Arab Board of Health Specializations،Vol. 1, no. 2, pp.62-65.
https://search.emarefa.net/detail/BIM-158840
Modern Language Association (MLA)
Muhamidani, Ahmad Abd Allah& El Mukashfie, S.. Congenital erythropoietic porphyria (cep) : a report of two female siblings. Journal of the Arab Board of Health Specializations Vol. 1, no. 2(April 1999), pp.62-65.
https://search.emarefa.net/detail/BIM-158840
American Medical Association (AMA)
Muhamidani, Ahmad Abd Allah& El Mukashfie, S.. Congenital erythropoietic porphyria (cep) : a report of two female siblings. Journal of the Arab Board of Health Specializations. 1999. Vol. 1, no. 2, pp.62-65.
https://search.emarefa.net/detail/BIM-158840
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 64-65
Record ID
BIM-158840