Genetic Skin Diseases With Altered Aging

Goldsmith, Lowell A.

doi:10.1001/archderm.1997.03890460117014

Cited by 10 publications

(3 citation statements)

References 24 publications

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“…Five of the patients were girls (including these three sisters) and one was a boy. Although patient's survival beyond the second decade is not common [Nance and Berry, 1992;Goldsmith, 1997] (one of our patients died at 7 years of age, while the other died at the age of 12 years), there are reported two adult sibs who were in the fourth and fifth decades of their lives [Miyauchi et al, 1994].…”

Section: Discussionmentioning

confidence: 71%

“…The principal features include: progressive loss of muscle and subcutaneous tissue, short stature, premature aging, senile face, mental retardation, microcephaly, enophthalmos, retinopathy, beak-like nose, hearing loss, carious teeth, relatively large hands and feet, joint contractures, photosensitive dry skin, and thin hair [Cockayne, 1946;MacDonald et al, 1960;Goldsmith, 1997;Meira et al, 2000].…”

Section: Introductionmentioning

confidence: 99%

“…The diagnosis is basically clinical, though supportive diagnostic tests are available including computerized tomography (CT) brain, bone X-ray and genetic (DNA) analysis [Nance and Berry, 1992;Lehman et al, 1993;Ozdirim et al, 1996]. The prognosis is poor; most affected children mostly die by the second decade of life [Goldsmith, 1997]. Unfortunately, there is no treatment other than supportive measures [Nance and Berry, 1992;Ozdirim et al, 1996].…”

Section: Introductionmentioning

confidence: 99%

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Cockayne syndrome in three sisters with varying clinical presentation

Mahmoud

Yousef

Al-Hifzi³

et al. 2002

Am. J. Med. Genet.

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We report three sisters showing the clinical features and investigational findings of Cockayne syndrome (CS). In the rehabilitation unit of Northwest Armed Forces Hospital (N.W.A.F.H.), Tabuk, Saudi Arabia, there was a 12-year-old girl with typical features of CS. The girl had no apparent problems until the end of the first year when growth and developmental delay prompted medical evaluation. Brain CT, bone X-rays, auditory and ophthalmological evaluation confirmed the clinical impression of Cockayne syndrome. Two of her 13 sibs, both sisters, were later found to have the same syndrome. The sisters varied in clinical severity, as two of them had cataracts and early global delay and died early of inanition and infection. The third showed the disease manifestations at a relatively later age, did not have cataract, exhibited milder manifestations of the disease, and remains alive. The parents are not related by any way and the father is married to two other wives with 11 unaffected children. This report documents variable degrees of manifestations in sibs who presumably have the same gene mutation.

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Section: Discussionmentioning

confidence: 71%