Porfiria eritropoyética congénita
Keywords:
porfiria eritropoyética congénita, enfermedad de Günther, porfirinas, fotosensibilidad, eritrodonciaAbstract
Se presenta el caso de una niña de 3 años de edad, quien seis meses después del nacimiento desarrolla lesiones cicatriciales en la cara y áreas fotoexpuestas asociadas con hipertricosis, eritrodoncia y orina oscura. Se toman pruebas de laboratorio, cuyos resultados, sumados a la clínica de la paciente, hacen el diagnóstico de porfiria eritropoyética congénita.
Author Biographies
Milton Mejía Montoya, Universidad Pontificia Bolivariana
Residente de Dermatología, Universidad Pontificia Bolivariana, Medellín.
Diego Espinosa Arango, Universidad Pontificia Bolivariana
Dermatólogo Colaborador, Universidad Pontificia Bolivariana, Medellín.
References
1. Watson CJ, Lowry PT, Schmid R, Hawkinson VE, Schwartz S. The manifestations of the different forms of porphyria in relation to chemical findings. Trans Assoc Am Physicians 1951; 64:345-52.
2. Günther J. Die hamatoporphyrie. Dtsch Arch Klin Med 1911 ;105:89.
3. Tsai SF, Bishop DF, Desnick RJ. Human uroporphyrinogen 111 synthase. Molecular cloning, nucleotide sequence and expression of a full-length cDNA. Proc Natl Acad Sci USA 1988; 85:7049-53.
https://doi.org/10.1073/pnas.85.19.7049
4. Fritsch C, Bolsen K, Ruzicka T, Goerz G. Congenital erythropoietic porphyria. J Am Acad Dermatol 1997; 36(4):594-610.
https://doi.org/10.1016/S0190-9622(97)70249-4
5. Piomelli S, Poh-Fitzpatrick MB, Seaman C, Skolnick LM, Berdon WE. Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high level transfusions. N Engl J Med 1986; 17:314(16):1029-31.
https://doi.org/10.1056/NEJM198604173141607
2. Günther J. Die hamatoporphyrie. Dtsch Arch Klin Med 1911 ;105:89.
3. Tsai SF, Bishop DF, Desnick RJ. Human uroporphyrinogen 111 synthase. Molecular cloning, nucleotide sequence and expression of a full-length cDNA. Proc Natl Acad Sci USA 1988; 85:7049-53.
https://doi.org/10.1073/pnas.85.19.7049
4. Fritsch C, Bolsen K, Ruzicka T, Goerz G. Congenital erythropoietic porphyria. J Am Acad Dermatol 1997; 36(4):594-610.
https://doi.org/10.1016/S0190-9622(97)70249-4
5. Piomelli S, Poh-Fitzpatrick MB, Seaman C, Skolnick LM, Berdon WE. Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high level transfusions. N Engl J Med 1986; 17:314(16):1029-31.
https://doi.org/10.1056/NEJM198604173141607
How to Cite
1.
Mejía Montoya M, Espinosa Arango D. Porfiria eritropoyética congénita. rev. asoc. colomb. dermatol. cir. dematol. [Internet]. 2005 Dec. 1 [cited 2026 Mar. 18];13(4):331-3. Available from: https://revistaasocoldermaorgco.biteca.online/index.php/asocolderma/article/view/554
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Published
2005-12-01
How to Cite
1.
Mejía Montoya M, Espinosa Arango D. Porfiria eritropoyética congénita. rev. asoc. colomb. dermatol. cir. dematol. [Internet]. 2005 Dec. 1 [cited 2026 Mar. 18];13(4):331-3. Available from: https://revistaasocoldermaorgco.biteca.online/index.php/asocolderma/article/view/554
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