Stiff Skin Syndrome

 

Stiff skin syndrome is an autosomal dominant inherited disease characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position. Other signs and symptoms may include excessive hair growth, loss of body fat, scoliosis, muscle weakness, slow growth, and short stature. Some people with SSS may have restrictive pulmonary changes and a narrow chest cavity that cause trouble breathing. Many individuals walk on their tiptoes