Table 2. Clinical findings in Recessive Dystrophic Epidermolysis Bullosa

Cutaneous Findings

Extracutaneous Findings

Blisters Dystrophic or absent nails Atrophic scarring Milia High risk of squamous cell carcinoma Pruritus Scalp abnormalities

Anemia- mixed type Delayed Puberty Growth Retardation Pseudosyndactyly Flexion contractures Renal abnormalities -Glomerulonephritis -Renal amyloidosis -IgA Nephropathy -Chronic Renal Failure Cardiomyopathy Osteoporosis Oral Cavity Abnormalities -early loss of teeth -excessive caries -soft tissue abnormalities Nasopharyngeal Abnormalities Ocular Abnormalities -corneal erosions and scarring Gastrointestinal tract Abnormalities -esophageal strictures and webs -anal stenosis Genitourinary Abnormalities -phimosis -uretral stenosis