The signs and symptoms of Gottron syndrome vary somewhat from one person to another. Because this condition is so rare, it is difficult to get a complete picture of the core features that define the syndrome.
Generally, from birth-onwards, children with Gottron syndrome appear older than their actual age. The skin is unusually thin, taut, and parchment-like on the hands and feet (distal extremities) and may even involve the face. The hands and feet remain abnormally small into adulthood. Those affected by Gottron syndrome are said to have a characteristic face defined by a pinched looking face, hollow cheeks, an owl-eyed appearance, a beaked nose and thin lips.
The veins on the chest are very visible and prominent (telangiectasia) due to diminished amounts of fat under the skin (subcutaneous fat). There may also be discoloration of the skin (poikiloderma) or easy Bruising especially on the legs and the chest. However, while mostly it is reported that nails appear normal, there have been some reports of a thickened appearance (dystrophic). The affected individual may also have fine or thinning hair (alopecia).
Certain skeletal defects may be evident as well. These may include delayed cranial suture closure. The newborn’s skull is comprised of separate bony plates which are separated by sutures. This allows for transient distortion during birth and permits for growth of the brain in the first two years of life. Normally these bony plates will end up fusing by the age of two. Other skeletal defects include bone reabsorption of the ends of the fingers and toes (acro-osteolysis) as well as recurrent fractures.
Gottron syndrome is a non-progressive disorder, so the symptoms do not tend to get worse over time. The prognosis is generally quite good and affected individuals have average intelligence as well as a normal life expectancy. Although some patients develop heart disease similar to other premature aging diseases (progeria), people with Gottron syndrome do not usually have the associated premature heart disease.