Publisher： John Wiley & Sons Inc
E-ISSN： 1346-8138|22|11|823-828
ISSN： 0385-2407
Source： THE JOURNAL OF DERMATOLOGY, Vol.22, Iss.11, 1995-11, pp. : 823-828
Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.
Abstract
AbstractThe porphyrias are uncommon diseases caused by enzymatic deficiencies in the heme pathway. In the 25 year period 1969–1994, the Department of Dermatology of the Hospital Clinic of Barcelona has been able to study 793 cases of porphyria (724 cases of PCT, 27 of EPP, 26 of PV, 5 of CEP, 5 of HEP, 5 of AIP, 1 of HCP).Homozygous expression of an enzymatic deficiency in the heme pathway produces severe disease. Commonly, clinical manifestations appear in the homozygous state (the autosomal recessive porphyrias). However, homozygous forms of autosomal dominant porphyrias may occur exceptionally.Moreover, there are cutaneous porphyrias whose clinical manifestations do not permit dermatologists to classify them clearly into one of the well‐defined syndromes. These uncommon and atypical forms are difficult to recognize without biochemical and enzyme studies.The porphyrias have a wide clinico‐biochemical spectrum, including a large proportion of well defined diseases. Nevertheless, atypical forms occur and may be difficult to evaluate. It is important to note the genetic heterogeneicity of porphyrias, which accounts for the varying phenotypic expression.
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