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Case Reports
. 2016 Sep-Dec;4(3):218-221.
doi: 10.4103/1658-631X.188249. Epub 2016 Aug 11.

Genitourinary Tract Involvement in a Child with Epidermolysis Bullosa

Hala M Al Moaigel  1 , Bashayer S Al-Awam  1
Affiliations
Case Reports

Genitourinary Tract Involvement in a Child with Epidermolysis Bullosa

Hala M Al Moaigel et al. Saudi J Med Med Sci. 2016 Sep-Dec.

Abstract
in English, Arabic

Epidermolysis bullosa (EB) is a rare, inherited, bullous disorder of the skin that occasionally involves the urinary tract. We report a 3-month-old, premature infant with EB, who presented with gross hematuria. Urine analysis revealed macrohematuria and proteinuria. The urine culture was negative. On ultrasonic evaluation, there was bilateral hydronephrosis and the distal ureters had echogenic shadows, suggestive of clotted blood. This case is consistent with the rare involvement of the urinary tract with hydronephrosis and bullous lesions.

ملخص البحث: انحلال ما فوق الأدمة الفقاعي مرض وراثي نادر، وهو من الاعتلالات الفقاعية للجلد والذي قد يشمل أحيانا المسالك البولية. يعرض الباحثان حالة طفلة عمرها 3 أشهر ، أحضرت للمستشفى كونها تعاني من تبول دموي. اظهر تحليل البول وجود دم وكانت مزرعة البول سلبية. اظهر الفحص بالموجات فوق الصوتية استسقاء كلوي ثنائي الجانب مع ظل صدوي في أخر الحالب يشير إلى وجود تجلطات دموية . تدل هذه الحالة على إصابة نادرة للمجرى البولي مع استسقاء كلوي وإصابات فقاعية في الجلد.

Keywords: Epidermolysis bullosa; genitourinary; hematuria; hydronephrosis.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Lesions on the face at areas of nasogastric tube, also notice the alopecia.
Figure 2
Figure 2
The lower limbs showing areas of ulcerations, some were healed by hypo- or hyper-pigmented scars.
Figure 3
Figure 3
Lesion over the hand with dystrophic thumbnail.
Figure 4
Figure 4
(a) Right kidney. (b) Left kidney. Ultrasound of the kidneys showing bilateral hydronephrosis more prominent on the right kidney.
See this image and copyright information in PMC

References

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    1. Jalalah SM, Sawan AS, Zimmo SK. Epidermolysis bullosa: Experience from the western Province of Saudi Arabia. JKAU Med Sci. 2006;13:49–58.

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