Figure 1
From: Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis
Diagnostic Algorithm for Attenuated Mucopolysaccharidoses. *Newborn infants with the most severe form of MPS I (Hurler syndrome), although normal appearing, often have radiologic evidence of bone and joint abnormalities. **Note that overall skin texture in patients with MPS I can be thickened and rough. MPS II [6, 7] and rarely MPS I [30] can be associated with a distinctive skin lesion consisting of white "pebbly" papules 2-10 mm in diameter, sometimes coalescing in ridges. †We recommend both quantitative and qualitative (GAG profile) analysis in a reputable laboratory. False negatives can occur with spot screening. §See Table 1 for listing of enzyme deficiencies. Abbreviations: IDUA: α-L-iduronidase; uGAG: urinary glycosaminoglycan; JIA: juvenile idiopathic arthritis; RA: rheumatoid arthritis.