These authors contributed equally to this paper.
Clinical dermatology ● Concise report
Homozygous variegate porphyria presenting with developmental and language delay in childhood
Article first published online: 18 SEP 2013
© 2013 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 38, Issue 7, pages 737–740, October 2013
How to Cite
Pinder, V. A. E., Holden, S. T., Deshpande, C., Siddiqui, A., Mellerio, J. E., Wraige, E. and Powell, A. M. (2013), Homozygous variegate porphyria presenting with developmental and language delay in childhood. Clinical and Experimental Dermatology, 38: 737–740. doi: 10.1111/ced.12071
Conflict of interest: none declared.
- Issue published online: 18 SEP 2013
- Article first published online: 18 SEP 2013
- Manuscript Accepted: 30 AUG 2012
Variegate porphyria is an autosomal dominant disorder that usually presents with photosensitivity and acute neurological crises in adulthood. It is caused by heterozygous mutations in the protoporphyrinogen oxidase gene (PPOX). A rarer variant, homozygous variegate porphyria (HVP), presents in childhood with recurrent skin blisters and scarring. More variable features of HVP are short stature, brachydactyly, nystagmus, epilepsy, developmental delay and mental retardation. We describe a child who presented with nystagmus, developmental delay and ataxia, combined with a photosensitive eruption. Analysis of porphyrins in plasma, urine and stool supported a clinical diagnosis of HVP. DNA from the patient showed that he is compound heterozygous for two novel missense mutations in the PPOX coding region: c.169G>C (p.Gly57Arg) and c.1259C>G (Pro420Arg). Interestingly, cranial magnetic resonance imaging showed an absence of myelin, a feature not previously reported in HVP, which expands the differential diagnosis of childhood hypomyelinating leucoencephalopathies.