Tests to Monitor in Patients with Severe Types of Epidermolysis Bullosa

Tests to monitor in patients with severe types of epidermolysis bullosa are presented.

	Investigation	Comment
Chemical Pathology	Urea and electrolytes: Na, K, Ur, Cr	6 monthly unless abnormal
	Liver function tests: total bilirubin, albumin, alkaline phosphatase, alanine aminotransferase, aspartate aminotransferase	6 monthly
	Bone profile: Ca, P, albumin, alkaline phosphatase, vitamin D)	6 monthly
	Trace elements: zinc, selenium	Annual
	Vitamin B ₁₂, vitamin A	Annual
	Total iron-binding capacity (TIBC), serum iron, ferritin	3–6 monthly depending on anemia and if having iron infusions
	Urine dipstick test, protein and blood	At each visit
Hematology	Full blood count	3–6 monthly depending on degree of anemia
Hematology	Red cell folate, serum folate	Annually
Radiology	Radiograph: lateral thoracic and lumbar spine Whole spine dual energy radiograph absorptiometry (DEXA) scan	Annually from age 4 years
	Radiograph of left hand	Evaluate bone age if indicated
	Echocardiogram	Annually from age 2 years
	Renal ultrasound	Annually in patients with junctional epidermolysis bullosa (JEB) and JEB-PA
Microbiology	Wound swab	If clinical evidence of infection
Microbiology	Urine culture	If positive dipstick
Endocrinology for Pubertal Delay	Female patients: follicle-stimulating hormone (FSH), luteinizing hormone (LH), and estradiol Male patients: FSH, LH, and testosterone	Pelvic ultrasound to assess ovaries and uterus if clinically indicated