Non-specific cutaneous changes that can be seen in all mucopolysaccharidoses are thickened skin with a loss of elasticity on elbows and knees, rough hair and hypertrichosis. The presence of ivory-colored papules over the scapular region and outer lateral sides of the arms and thighs is typical and almost pathognomonic of Hunter syndrome. We present the case of a boy with the moderate form of Hunter syndrome, who presented with skin lesions typical of this syndrome.
Cutaneous manifestations of hunter syndrome
 
  Key words
 
 
  
   mucopolysaccharidosis II
  
 
 
  
   Hunter syndrome
  
 
 
  
   iduronate-2-sulfatase
  
 
 
  
   cutaneous manifestations
  
 
Abstract
—Mucopolysaccharidoses (MPS) are a group of storage disorders in which the deficiency of a certain lysosomal enzyme causes the accumulation of mucopolysaccharides in the lysosomes of the cells of several organs, including the skin.
Hunter syndrome, or type-II mucopolysaccharidosis, is due to a deficiency of iduronate-2-sulfatase, which gives rise to the accumulation of and increase in the urinary excretion of dermatan and heparan sulfates.
The manifestations of Hunter syndrome include multiple dysostoses, organomegaly, coarse facies, absence of corneal clouding and <dis>mental retardation with progressive neurological deterioration in the severe form</dis>.
Non-specific cutaneous changes that can be seen in all mucopolysaccharidoses are thickened skin with a loss of elasticity on elbows and knees, rough hair and hypertrichosis.
The presence of ivory-colored papules over the scapular region and outer lateral sides of the arms and thighs is typical and almost pathognomonic of Hunter syndrome.
We present the case of a boy with the moderate form of Hunter syndrome, who presented with skin lesions typical of this syndrome.
Abstract
—Mucopolysaccharidoses (MPS) are a group of storage disorders in which the deficiency of a certain lysosomal enzyme causes the accumulation of mucopolysaccharides in the lysosomes of the cells of several organs, including the skin.
Hunter syndrome, or type-II mucopolysaccharidosis, is due to a deficiency of iduronate-2-sulfatase, which gives rise to the accumulation of and increase in the urinary excretion of dermatan and heparan sulfates.
The manifestations of Hunter syndrome include multiple dysostoses, organomegaly, coarse facies, absence of corneal clouding and mental retardation with progressive neurological deterioration in the severe form.
Non-specific cutaneous changes that can be seen in all mucopolysaccharidoses are thickened skin with a loss of elasticity on elbows and knees, rough hair and hypertrichosis.
The presence of ivory-colored papules over the scapular region and outer lateral sides of the arms and thighs is typical and almost pathognomonic of Hunter syndrome.
We present the case of a boy with the moderate form of Hunter syndrome, who presented with skin lesions typical of this syndrome.
Non-specific cutaneous changes that can be seen in all mucopolysaccharidoses are thickened skin with a loss of elasticity on elbows and knees, rough hair and hypertrichosis. The presence of ivory-colored papules over the scapular region and outer lateral sides of the arms and thighs is typical and almost pathognomonic of Hunter syndrome. We present the case of a boy with the moderate form of Hunter syndrome, who presented with skin lesions typical of this syndrome.