MEDICAL IMAGES

Brothers with Congenital ErythropoieticPorphyria

Alexei Gonzalez-Estrada, MD, and Jose S. Garcia-Morillo, MD

FIGURE 1. Brothers with multiple hypopigmented scars of variable sizesand hypertrichosis in the face.

Department of Internal Med-icine, Cleveland Clinic Foun-dation, Cleveland, Ohio(A.G.-E.), and Internal Medi-cine, Hospital UniversitarioVirgen del Rocio, Sevilla,Andalucia, Spain (J.S.G.-M.).

T wo brothers, one 16 and the other 18years of age, presented to our outpa-tient service for multiple recurrent blis-

ters and erosions on sun-exposed areas. Onphysical examination they showed multiplehypopigmented scars of variable sizes on theface (Figure 1), upper chest, and dorsal aspectsof the upper extremities. In addition to destruc-tion of the ear lobes (Figure 2) and the cartilageof the nose, erythrodontia, resorption of thedistal phalanges in the hands (Figure 3), hyper-trichosis of the face and extremities (Figure 1),and hepatosplenomegaly were present. In-creased concentrations of porphyrins weremeasured in the urine and plasma, establishingthe diagnosis of erythropoietic porphyria dueto a deficiency of uroporphyrinogen III syn-thase activity. Given the autosomal recessivepattern of transmission of the disease, geneticstesting was performed on their mother and fa-ther and revealed a known pathogenic hetero-zygous sequence variation of the C73R andP248Q genes, respectively. The patients wererecommended to use beta carotene and avoidsunlight.

FIGURE 2. Destruction of the ear lobes (arrows).

Mayo Clin Proc. n February 2014;89(2):e11 n http://dx.doi.org/10.1www.mayoclinicproceedings.org n ª 2014 Mayo Foundation for M

ACKNOWLEDGMENTThe authors would like to thank AuroraGonzales-Estrada, MD, for assistance withthis Medical Image.

FIGURE 3. Resorption of the distal phalanges in the hands(arrows).

016/j.mayocp.2013.06.028edical Education and Research

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