FC103 A genetic study in erythropoietic protoporphyria

Horkay, Irén; Remenyik, Éva; Moore, Maurice R.; Lanyon, G. W.

doi:10.1016/s0926-9959(97)89421-4

Cited by 3 publications

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“…2b). In addition to the laboratory tests, routine histology and electron microscopic examination of the liver of our young patients were performed in 1967, which revealed mitochondrial alterations and other ultrastructural changes suggesting the role of the liver in the pathomechanism of EPP (37,38). The prophylactic possibilities include broad-spectrum sunscreens, oral b-carotene with moderate effect (39), and recently narrow-band UVB phototherapy (40).…”

Section: Cutaneous Porphyriasmentioning

confidence: 99%

Photosensitivity skin disorders in childhood

Horkay

Emri

Varga

et al. 2008

Photoderm Photoimm Photomed

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SummaryPhotosensitivity in childhood is caused by a diverse group of diseases. It usually indicates idiopathic photodermatoses, first of all polymorphic light eruption. It may be an early symptom of genetic disorders such as porphyria or very rare genophotodermatoses. Photosensitivity secondary to topical or systemic external agents as well as photoexacerbated dermatoses is not so frequent in childhood. Here we present our experience with childhood photosensitivity skin diseases collected over a 40-year period. L ight-induced skin eruptions are not a common problem in pediatric dermatology. However, the condition often causes trouble and discomfort to the affected child and the parents.The literature on childhood photodermatoses (PDs) is relatively scanty. The incidence of PDs in childhood is much lower than in adults (1). According to the paper published by Jansén (2), photosensitivity started at the age of 15 years or earlier in 26% of the cases out of a total of 370 PD patients. There is also a shortage of primary data on the prevalence of PDs classified recently by Yashar and Lim (3) such as (i) idiopathic PD: polymorphic light eruption (PLE), juvenile spring eruption of the ears (JSE), solar urticaria (SU), hydroa vacciniforme (HV), (ii) photosensitivity secondary to exogenous agents, (iii) cutaneous porphyrias, (iv) genophotodermatoses and (v) photoexacerbated/aggravated disorders. The paper presents experience with PDs in childhood (83 cases) collected at the Department of Dermatology, Debrecen, between 1967 and 2006.The diagnosis in the vast majority of PD cases in children is PLE, whereas the order of other diseases is quite variable depending on geographic and genetic conditions. In the Finnish report (2) mentioned before, PLE was followed by xeroderma pigmentosum (XP) and then erythropoietic protoporphyria (EPP), while no cases were recorded from external photosensitizers. According to other literary data, phototoxic dermatitis occurs relatively often besides idiopathic PDs during childhood (4). Similar to these findings the most frequent diagnosis at our Department of Dermatology was also PLE. However, we recorded a rather high number of EPP cases and some porphyria cutanea tarda (PCT) as well, but only a few cases of XP (Table 1).Diagnosis of PD in childhood is not as easy as in adulthood (5). In the history occasionally (mostly in EPP) a family history is noted, such as in our patient material (6). The clinical picture is featured by various kinds of eruptions localized typically on the sun-exposed skin. The diagnosis in childhood can also be confirmed by phototests. Most informative is the provocation test used to reproduce lesions of idiopathic PDs (5). We perform it with ultraviolet (UV)B and UVA separately (Multitester SBB LT 400; Saalmann, Herford, Germany) (7) according to the protocol of Lehmann et al. (8). Photopatch testing for identifying external photosensitizer(s) is not performed commonly in children. We have not used it in our practice. Concerning laboratory tests, in porphyrias spect...

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Section: Cutaneous Porphyriasmentioning

confidence: 99%

Photosensitivity skin disorders in childhood

Horkay

Emri

Varga

et al. 2008

Photoderm Photoimm Photomed

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Clinical implications of the molecular biology of erythropoietic protoporphyria

Todd

1998

Acad Dermatol Venereol

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Molecular genetics of erythropoietic protoporphyria

Todd

1998

Photoderm Photoimm Photomed

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Erythropoietic protoporphyria (EPP) is caused by decreased activity of the enzyme ferrochelatase and is characterized by burning photosensitivity commencing in childhood. From 1–10% of patients develop potentially fatal protoporphyric hepatic failure. The gene for ferrochelatase has been cloned, sequenced and mapped to the long arm of chromosome 18. EPP is genetically very heterogeneous and 24 different mutations in 27 unrelated patients have been published. In the majority of families co‐inheritance of a mutant ferrochelatase allele from one parent and a low‐output “normal” ferrochelatase allele from the other parent is required for disease expression. The molecular basis, if any, of protoporphyric hepatic failure has not yet been resolved. Gene therapy experiments have been completed in vitro and are in progress in an animal model of EPP. In conclusion, molecular genetic investigation of EPP has increased our understanding of its pathogenesis and inheritance. Why some EPP patients develop hepatic failure is still unanswered. Gene therapy of EPP patients may become possible in the future.

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FC103 A genetic study in erythropoietic protoporphyria

Cited by 3 publications

References 0 publications

Photosensitivity skin disorders in childhood

Photosensitivity skin disorders in childhood

Clinical implications of the molecular biology of erythropoietic protoporphyria

Molecular genetics of erythropoietic protoporphyria

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