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Rare recessive syndrome with bullous extensive skin
anomalies, juvenile cataract skeletal disorders, and malignancy
predisposition (skin and osseous). Trisomy 8 mosaicism is frequent. Trisomy
8 occurs in 2.5% of the peripheral lymphocytes. This low incidence could
be overlooked in routine karyotyping. Maintaining hydration is a
major concern.
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Poikiloderma Atrophicans and Cataract; Poikiloderma
Congenitale.
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Fewer than 100 cases described.
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Autosomal recessive; variable phenotype;
mutations in a recQ helicase gene (RECQL4) at locus 8q24.3 in several
patients.
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The DNA helicase gene RECQL4 is involved in this
syndrome. In vivo clonal chromosomal re-arrangements causing an acquired
somatic mosaicism have been evocated to explain this pathology.
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Clinical, evocated by the association of skin
abnormalities (starting in infancy), skeletal disorders, juvenile cataract,
and predisposition to malignancy and characteristic rash. Karyotype may show
abnormalities of chromosome 8 in a minority of patients.
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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.
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Good medical history and physical examination
must be obtained to exclude obvious Addison disease. Look carefully at the future
emplacement of the intravascular infusion lines. Special attention to the teeth
(implantation and looseness). Creatinine ...