Porphyria cutanea tarda

General: Disorder of porphyria metabolism; highest incidence in Bantu p 757j93h opulation; both sexes affected; onset between ages 40 and 60 years; insidious onset; autosomal dominant; light-sensitive dermatitis in later adult life; associated with excretion of large amounts of uroporphyrin in urine.

Ocular: Synophrys; keratitis; palsies of third and seventh cranial nerves; scleromalacia perforans; optic atrophy; retinal hemorrhages and cotton-wool spots; macular edema; pinguecula; pterygium; brownish pigmentation in conjunctiva and lid margin.

Clinical: Cutaneous manifestations are solar hypersensitivity, vesiculobullous lesions, ulcerations, severe scarring, and hypertrichosis; erythrodontia.

Chumbley LC. Scleral involvement in symptomatic porphyria. Am J Ophthalmol 1977; 84:729.

Hammer H, Korom I. Photodamage of the conjunctiva in patients with porphyria cutanea tarda. Br J Ophthalmol 1992; 76:592-593.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Sober AJ, et al. Cicatricial ectropion and lacrimal obstruction associated with the sclerodermoid variant of porphyria cutanea tarda. Am J Ophthalmol 198l; 9l: 396-400.

Struck HG, et al. Klinische Untersuchungen zur Augenbeteiligung bei Porphyria cutanea tarda. Klin Monatsbl Augenheilkd 1991; 198:258-263.

Willerson D Jr, et al. Familial porphyria cutanea tarda in a patient with retinitis pigmentosa. Ann Ophthalmol 1979; 11:409-411.