2021, Number 4
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Dermatología Cosmética, Médica y Quirúrgica 2021; 19 (4)
Porphyrias: A Review
Uriarte MDF, Gómez GBA, Mancinelli MC, Candelo VPA
Language: Spanish
References: 38
Page: 361-368
PDF size: 305.85 Kb.
Text Extraction
Porphyrias are rare metabolic disorders and difficult to diagnose;
they are hereditary or acquired in nature, originating from
the deficiency of the enzymes that participate in heme biosynthesis.
They are classified in different ways taking into account
the clinical, biochemical, enzymatic and genetic point of view.
Laboratory, genetic and molecular studies confirm the diagnosis.
There is only preventive symptomatic and symptomatic
treatment. They are of particular interest in the field of dermatology
due to the majority of cutaneous manifestations they
present. We present an update review of the epidemiological,
clinical, diagnostic, and timely treatments against these diseases.
REFERENCES
Arenas R, Dermatología. Atlas, diagnóstico y tratamiento, 7ª ed., México, McGraw-Hill, 2019, pp. 670-6.
Puy H, Gouya L y Deybach JC, Porphyrias, The Lancet 2010; 375:924-37.
Poblete Gutiérrez P, Kunitz O, Wolff C y Frank J, Diagnosis and treatment of the acute porphyrias: an interdisciplinary challenge, Skin Pharmacol Appl Skin Physiol 2001; 14:393-400.
Bolognia JL, Jorizzo JL y Schaffer JV, Dermatology, 4ª ed., Pekín, Elsevier, 2016, cap. 49, Porphyria, pp. 773-83.
Bickers DR y Frank J, The porphyrias. En Wolff K, Goldsmith LA, Katz SI et al. (eds.), Dermatology in general medicine, 8ª ed., Nueva York, Mc- Graw-Hill, 2012, pp. 1228-56.
Kauppinen R, Porphyrias, The Lancet 2005; 365:241-52.
Aagaard L, Krag A et al., Cutaneous porphyrias: causes, symptoms, treatments and the Danish incidence 1989-2013, Acta Derm Venereol 2016; 96:868-72.
Bickers D y Frank J, The porphyrias. En Woolf K, Goldsmith LA, Katz SI et al., Fitzpatrick’s dermatology in general medicine, vol. 2, 8ª ed. Nueva York, McGraw-Hill, 2012, pp. 1538-73.
Ashwani KS, Porphyria cutanea tarda: recent update, Mol Genet Metab 2019; 128(3):271-81.
Bulat V, Lugovic L, Situm M, Buljan M y Bradic L, Porphyria cutanea tarda as the most common porphyria, Acta Dermatovenerol Croat 2007; 15:254-63.
Frank J y Christiano AM, The genetic bases of the porphyrias, Skin Pharmacol Appl Skin Physiol 1998; 11:297-309.
Sassa S, Modern diagnosis and management of the porphyrias, Br J Dermatol 2006; 135:281-92.
Ashwani KS, Porphyria cutanea tarda: recent update, Mol Genet Metab 2019; 128(3):271-81.
Rodríguez Sendejas NJ, Mancheno Valencia A y Arenas R, Un caso de porfiria cutánea tarda de origen multifactorial, Dermatología cmq 2014; 12(1):37-40.
Green JJ y Manders SM, Pseudporphyria, J Am Acad Dermatol 2001; 44(1):100-8. doi:10.1067 / mjd.2000.111338.
Lang BA y Finlayson LA, Naproxen-induced pseudoporphyria in patients with juvenile rheumatoid arthritis, J Pediatr 1994;124:639-40.
Saito A, Okiyama N, Inoue S, Kubota N, Nakamura Y, Ishitsuka Y et al., Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria, J Dematol 2020; 47(4):114-6. doi: 10.1111 / 1346-8138.15258.
De Bataille S, Dutartre H, Puy H, Deybach JC, Gouya L, Raffray E et al., Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in France, Br J Dermatol 2016; 175:768-75.
Granata F, Duca L, Graziadei G, Brancaleoni V, Missineo P, De Luca G et al., Inflammatory involvement into phototoxic reaction in erythropoietic protoporphyria (epp ) patients, Immunol Res 2019; 67(4-5):382-9. doi: 10.1007 / s12026-019-09097-5.
Arenas R, Protoporfiria eritropoyética: estudio de dos casos, Dermatología Rev Mex 1975; 19(1):3-18.
Podlipnik S, Guijarro F, Combalia A, To-Figueras J, Badenas C, Costa D et al., Acquired erythropoietic uroporphyria secondary myelodisplasic syndrome with chromosome 3 alterations: a case report, Br J Dermatol 2018; 179:256-7.
Erwin A, Balwani M y Desnick R, Porphyrias Consortium of the nih- Sponsored Rare Diseases Clinical Research Network. Congenital erythropoietic porphyria. Disponible en: https://www.ncbi.nlm. nih. gov/books/NBK154652.
Herrero C, Badenas C, Aguilera P y To-Figueras J, Porfiria aguda intermitente: seguimiento a largo de 35 pacientes, Med Clin 2014; 145(8):332-7.
Losno RA, Combalia A y Aguilera P, Reversible encephalopathy syndrome in acute porphyria attack, Med Clin 2019; 153(7):31-32. doi: 10.1016/j.medcli.2019.01.022.
Jaramillo Calle DA y Velázquez López M, Manifestaciones cutáneas de la porfiria variegata y coproporfiria hereditaria, Dermatol Rev Mex 2018; 62(1):27-41.
Schulenburg-Brand D, Katugampola R, Anstey A y Badminton MN, The cutaneous porphyrias, Dermatol Clin 2014; 32(3):369-84. doi: 10.1016/j.det.2014.03.001.
Van Serooskerken A, Ernst M, Bladergroen R, Wolff C, Floderus Y, Harper P et al., A recurrent mutation in variegate porphyria patients from Chile and Sweden: evidence for a common genetic background?, J Dermatol 2011; 61(1):75-7. doi: 10.1016/j.jdermsci.2010.11.009.
Bronisch O, Stauch T, Haverkamp T, Beykirch T, Beykirch MK y Petrides PE, Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families, Ann Hematol 2019; 98(12):2683-91. doi: 10.1007/s00277-019-03831-7.
Jaeger A, Tempe JD, Geisler F, Nordmann Y y Mantz JM, Hereditary coproporphyria: 7 cases, Nouv Presse Med 1975; 4 (39):2783-7.
Asociación Española de Porfirias, Tipos de porfirias. Disponible en: https://www.porfiria.org/las-porfirias/tipos/.
Brownlie P, Lambert R, Louie G et al., The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria, Protein Sci 1994; 3:1644-50.
Al-Karadaghi S, Hansson M, Nikonov S, Jonsson B y Hederstedt L, Crystal structure of ferrochelatase: the terminal enzyme in heme biosynthesis, Structure 1997; 5:1501-10.
Whitby FG, Phillips JD, Kushner JP y Hill CP, Crystal structure of human uroporphyrinogen decarboxylase, embo J 1998; 17:2463-71.
Combalia A, To-Figueras J, Laguno M, Martínez-Rebollar M y Aguilera P, Direct-acting antivirals for hepatitis c virus induce a rapid clinical and biochemical remission of porphryria cutanea tarda, Fr J Dermatol 2017; 177(5):183-4. doi: 10.1111 / bjd.15502.
Tong Y, Song YK y Tyring S, Resolution of porphyria cutanea tarda in patients with hepatitis c following ledipasvir-sofosbuvir combination therapy, jama Dermatol 2016; 152:1393-5.
Hatch MM, Nawas Z, Kollipara R y Tyring SK, Can curative antivirals benefit porphyria cutanea tarda in hepatitis c patients?, J Eur Acad Dermatol Venereol 2017; 31:194.
Aguilera P, Laguno M y To-Figueras J, Human immunodeficiency virus and risk of porphyria cutanea tarda: a possible association examined in a large hospital, Photodermatol Photoimmunol Photomed 2016; 32:93-7.
Wensink D, Wagenmakers MA, Barman-Aksozen J, Friesema EC, Wilson JH, Rosmalen J et al., Association of afamelanotide with improved outcomes in patients with erythropoietic protoporphyria in clinical practice, jama Dermatol 2020; 156(5):570-5. doi: 10.1001/jamadermatol.2020.0352.