The skin changes begin within the first year of
life in 89% of patients. These are defined as erythematous patches or red edematous
plaques, sometimes accompanied by blistering. Characteristically, these begin on the
cheek and spread to the forehead, ears, and neck. Usually by this time,
erythema has also appeared on the dorsal aspects of the hands, extensor
aspects of the arms and forearms, and the legs and buttocks. Poikiloderma is
a feature of atrophy, areas of hyperand hypopigmentation, and
telangiectases. Skin, nails, and hair are primarily involved: erythematous or bullous
skin lesions, poikiloderma (atrophic plaques with telangiectasia),
telangiectasia, skin atrophy, sun sensitivity (35%), abnormal scar
formation, atrophic nails (24%), sparse hair, alopecia. Premature graying
of hair can frequently be observed and may be associated with short stature
(54%), mental retardation, and facial deformation: frontal bossing,
prognathism, small saddle nose, dental and ocular anomalies (juvenile
zonular cataracts [52%], microphthalmia, microcornea, strabismus,
glaucoma). Skeletal repercussions also concern limbs with osteoporosis,
forearm reduction defects, absence of patella joint, contractures, thumb
hypoplasia, small hands, and small and club feet. Other clinical features
are occasional and can affect digestive area (annular pancreas, anterior
positioning of the anus, duodenal stenosis) and genitourinary structures
(hypogonadism, cryptorchidism nephritis or nephropathy with vascular
hypertension). Anemia, growth hormone deficiency, and immunoglobulin
abnormality have also been reported. There is an increased risk of basal
cell carcinoma, squamous cell carcinoma, and osteogenic sarcoma. Treatment
includes constant use of sunscreen and avoidance of sun exposure. Regular
ophthalmic screening and evaluation of any bone pain are mandatory. One case
was described with Addison disease and one case was described with growth
hormone deficiency.