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