Because of the lack of a specific laboratory testing
at this time, the diagnosis must be based on the physical appearance
of the individual. The diagnosis is usually made in the first or second
year of life when skin changes and failure to gain weight become apparent.
For a definitive diagnosis it is important to compare children of the
same age. Certain characteristic features of the disease will be clear
only in the course of time. With the comparison of children in the same
age, we see immediately the astonishing similarity, despite differing
racial and ethnic backgrounds. This refers to the outward appearance,
as well as to the acute symptoms with this illness:
Newborn children appear normal. Then, in the first year, they experience
the following:
- Thinning of hair
- Remarkable skin changes in the breast and belly area
- Dry, aged-looking skin
- Skleroderma
At the second year the children experience the following:
- Almost total loss of hair
- Failure to gain weight and grow in height
- Small face and jaw relative to head size, and large eyes
- Crowded teeth
- Thin, tight and translucent skin.
- An increased inclination to bruise and wound
- Prominent veins in the scalp
- Shadow rings under the eyes and age spots become visible
The clinical picture is further characterized by:
- Remarkable short and wide nails as well as the clear shortening
and taper of the finger stops (Akroosteolysis).
- Stunted growth
- Typical position of the legs: a little bit bowlegged
- Coxa Valga and hip dislocation
- Abnormal development of the lateral sections of the shoulder joint
bones of the collar bones are observed.
- Increased stiffening of the joints (arthritis).
- Rheumatic complaints become apparent..
- Progressive arteriosclerosis arises in the course of time
- Circulatory problems
