Short reportsRecessive inheritance of erythropoietic protoporphyria with liver failure
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Cited by (86)
Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report
2022, Liver ResearchCitation Excerpt :Erythropoietic protoporphyria (EPP, MIM 177000) manifests pseudodominant inheritance owing to ubiquitous loss-of-function polymorphisms in the intron and should be better recognized as recessive inheritance.1–4
Protoporphyria
2012, The Porphyrin Handbook: Medical Aspects of PorphyrinsInheritance in erythropoietic protoporphyria
2010, Pathologie BiologieSeasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance
2009, Journal of Investigative DermatologyCitation Excerpt :To date we have not seen a patient with keratoderma who has not had recessive EPP but more patients need to be studied before the reliability of palmar keratoderma as a clinical indicator of recessive EPP can fully be assessed. Keratoderma was not reported as a clinical feature of either dominant or recessive EPP (Schmidt et al., 1974; DeLeo et al., 1976; Lamoril et al., 1991; Todd, 1994; Sarkany et al., 1994a; Poh-Fitzpatrick et al., 2002; Gouya et al., 2006) before our study of 223 UK patients with this disorder (Holme et al., 2006); possibly because it is uncommon and, unless large numbers of patients are investigated, the association of EPP with keratoderma may be regarded as chance, as was initially the case for two of our families. However, it seems unlikely that keratoderma has been overlooked in all previously reported patients with recessive EPP.
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria
2007, Journal of Investigative DermatologyProduction and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases
2005, BloodCitation Excerpt :Patients with 50% residual activity are usually not symptomatic. During the past 2 decades, several hypotheses have been forwarded to explain this observation, including a 3-allele, autosomal recessive hypothesis.9,10 Data currently available support a model by which clinical EPP and the 10% to 30% residual ferrochelatase activity result when a patient has an EPP mutant allele along with one wild-type allele that is a low-expression allele.