Congenital Cutaneous Dystrophy (Thomson's Type)

Rook, Arthur; Whimster, I. W.

doi:10.1111/j.1365-2133.1949.tb11084.x

Cited by 43 publications

(14 citation statements)

References 7 publications

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“…Carcinomatous changes of the skin may occur in adult life [ Rook and Whimster, 1949; Sexton, 19541 and osteogenic sarcoma has been reported in two patients [Tokunaga et al, 1976; Starr et al., 19851. Pigmentary changes in the skin are one of the major clues to the presence of somatic mosaicism [Thomas et al, 1986;Turleau et al, 1986; Donnai et al, 19861.…”

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confidence: 98%

Clonal lines of aneuploid cells in Rothmund‐Thomson syndrome

Kaloustian¹,

McGill²,

Vekemans³

et al. 1990

Am. J. Med. Genet.

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We report on a 21-month-old white boy with the Rothmund-Thomson syndrome. The karyotype on fibroblasts from an area of skin with poikiloderma showed the 46,XY,17 + der(17),t(2;17)(q11;p13) pattern. Karyotype on fibroblasts from normal skin showed two different abnormal patterns: 47,XY, + 8 and 47,XY, + i(2q). His lymphocytes had a normal 46,XY pattern. These findings indicate in vitro abnormalities. They are explained by a degree of chromosomal instability.

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confidence: 98%

Clonal lines of aneuploid cells in Rothmund‐Thomson syndrome

Kaloustian¹,

McGill²,

Vekemans³

et al. 1990

Am. J. Med. Genet.

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“…Some of the affected females in these original families had sparse hair' and only one had had children. 2 The principal clinical characteristics of the syndrome were thus established as universal skin changes, namely striae, atrophy, and ab-normal pigmentation,' short stature, variable cataract, hypogonadism, and sparse hair. Bloch and Stauffer3 in 1929 reported two cases with marked hypogonadism, dystrophic nails, and developmental abnormalities of the teeth.…”

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confidence: 99%

Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.

Kerr

Ashcroft

Scott

et al. 1996

Journal of Medical Genetics

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Rothmund-Thomson syndrome is a rare, autosomal recessive disorder associated with characteristic cutaneous changes, sparse hair, juvenile cataracts, short stature, skeletal defects, dystrophic teeth and nails, and hypogonadism. Mental retardation is unusual. An increased incidence of certain malignancies has been reported. Clonal or mosaic chromosome abnormalities and abnormalities in DNA repair mechanisms have been reported in some cases. We report two cases of RothmundThomson syndrome, both with intellectual handicap, associated in one with a previously undescribed histological appearance of involved skin, suggesting that the spectrum of abnormalities is even more heterogeneous than previously presumed. Both cases exhibited chromosomal radiosensitivity oflymphocytes which may be an indication of a DNA repair defect. This is the first report of an association between Rothmund-Thomson syndrome and unique, intrinsic, age related skin changes. (J Med Genet 1996;33:928-934)

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“…Life span appears to be normal although there has been one reported case of malignant change in the skin (Rook & Whimster 1949). Our second patient died of osteogenic sarcoma as did the 19-year-old Japanese patient of Tokunaga et al (1976).…”

Section: S T a R R E T A Lmentioning

confidence: 47%