Abstract
Two siblings presented with chronic eczema, recurrent skin infection, red urine, and red-brown teeth. Wood’s light examination of urine and lab investigations proved the diagnosis of a rare photomutilating disorder.
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Bibliography
Bari A. Congenital erythropoietic porphyria in three siblings. Indian J Dermatol Venereol Leprol. 2007;73:340–2.
Bickers DR, Frank J. The porphyrias. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick’s dermatology in general medicine. 7th ed. New York: McGraw Hill; 2008. p. 1228–56.
Debjani M, Somnath M. A rare case of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations. Middle East Afr J Ophthalmol. 2016;23(1):160–2.
Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002;117(4):779–95.
Drabkin DL. Selected landmarks in the history of porphyrins and their biologically functionally derivatives. In: Dolphin D, editor. The porphyrins. New York: Academic; 1979. p. 31–71.
Egbert BM, LeBoit PE, McCalmont T, Hu CH, Austin C. Caterpillar bodies: distinctive, basement membrane-containing structures in blisters of porphyria. Am J Dermatopathol. 1993;15(3):199–202.
Gupta S, Gupta U, Tiwari NK, Saraswat PK, Gupta DK. Gunthers disease. Indian J Dermatol. 1998;43:79–81.
Harada FA, Shwayder TA, Desnick RJ, Lim HW. Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. J Am Acad Dermatol. 2001;45(2):279–82.
Hillenkamp J, Reinhard T, Fritsch C, Kersten A, Böcking A, Sundmacher R. Ocular involvement in congenital erytropoietic porphyria (Günther’s disease): cytopathological evaluation of conjunctival and corneal changes. Br J Ophthalmol. 2001;85(3):371.
Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, Mason N. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. Br J Dermatol. 2012;167(4):901–13.
Katugampola RP, Anstey AV, Finlay AY, et al. A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases. Br J Dermatol. 2012;167(4):888–900.
Kauffman L, Evans DI, Stevens RF, Weinkove C. Bone-marrow transplantation for congenital erythropoietic porphyria. Lancet. 1991;337:1510–1.
Mathews-Roth MM. Treatment of the cutaneous porphyrias. Clin Dermatol. 1998;16(2):295–8.
Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood. 2007;109(6):2618–21.
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El-Darouti, M.A., Al-Ali, F.M. (2019). Photosensitivity with Brown Teeth. In: Challenging Cases in Dermatology Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-030-21855-3_33
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DOI: https://doi.org/10.1007/978-3-030-21855-3_33
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