A case report: Featuring a young boy presenting with excessive hair growth & red colored urine

Yıl 2011, Cilt: 3 Sayı: 2, 1 - 7, 03.04.2011

Abdulmoein Al-agha , Ali Ocheltree Basma Aljabrı

Öz

A four-year-old boy from a rural town in Saudi Arabia presented at the pediatric clinic at King Abdul-Aziz University Hospital complaining of hypertricosis, skin pigmentations, abdominal pain, vomiting and red urine. We discovered upon laboratory investigations, disturbed liver enzymes, elevated serum ferritin and high uroporphyrin values. The constellation of symptoms and the elevated uroporphyrin suggested the diagnosis of Porphyria. We would like to believe this is an interesting case, which demonstrates a number of combined clinical features in a child, who is the product of a first-degree consanguineous marriage.

Anahtar Kelimeler

Hypertricosis, Red Urine, Porphyria, Hyperpigementation

Kaynakça

• Desnick RJ, Glass IA, Xu W, et al. Molecular genetics porphyria. Semin Liver Dis. 1998;18:77-84
• Poblete-Gutierrez P, Wiederholt T, Merk HF, Frank J. The porphyrias: clinical presentation, diagnosis and treatment. Eur J Dermatol. 2006;16:230-40
• Table 18-1 in: Marks, Dawn B.; Swanson, Todd; Sandra I Kim; Marc Glucksman (2007). Biochemistry Philadelphia: Wolters Kluwer Health/Lippincott Williams&Wilkins. ISBN 0-7817-8624-X.
• Thadani H, Wassif W, Deacon A, Peters T. Neuropsychiatric intermittent porphyria. J sychiatric Case Reports 1997;2:29­35. of acute
• Elder GH, Hift RT, Meissner PN. The acute porphyrias. Lancet 1997;349:1613­7.
• Fritsch C, Bolsen K, Ruzicka T, Goerz G. Congenital erythropoietic porphyria. J Am Acad Dermatol 1997;36:594­610. 7- Guennoun
• N, Gerolami-Colombani
• A, Aquaron R. Sporadic porphyria cutanea tarda:
• a case report in a Moroccan man. Med Trop
• (Mars). 2003;63:183-7. V, Sebti
• Elder GH, Worwood M. Mutations in the hemochromatosis gene, porphyria cutanea tarda, and iron overload. Hepatology 1998;289­90.
• Buttery JE. Is the Watson­Schwartz screening method for porphobilinogen reliable? Clin Chem 1995;41:1670­1.
• Poh­Fitzpatick MB. A plasma fluorescence marker for variegate porphyria. Arch Dermatol 1980;116:543­7.
• Long C, Smyth SJS, Woolf J, Murphy GM. Detection of latent variegate porphyria by fluorescence. Br J Dermatol 1993;129:9­13.
• Helen Thadani, Allan Deacon, Timothy Peters. Diagnosis and management of porphyria.BMJ 2000;320:1647.
• Kappas A, Sassa S, Galbraith RA, Nardaman Y. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited McGraw­Hill, 1989:1305­66 ed. New York:
• Martinelli AL, Zago MA, Roselino AM, Filho AB, Villanova MG, Secaf M, et al. Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection. Am J Gastroenterol 2000;95:3516-21. Valls, V, Ena, J, Enriquez-De-Salamanca, R. low- dose oral chloroqine in patients with porphyria cutanea tarda and low- moderate iron overload. J dermatol sci 1994; 7:169.