Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease
We report two unusual patients with Rothmund-Thomson syndrome (RTS), a rare genodermatosis. The first patient is a 5-year-old girl with congenital poikiloderma, photosensitivity, plantar punctate keratoderma, stunted growth and severe mental retardation. Plantar keratoderma associated with RTS has b...
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Veröffentlicht in: | Acta dermatovenerologica Alpina, Panonica, et Adriatica Panonica, et Adriatica, 2006-06, Vol.15 (2), p.90-93 |
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Sprache: | eng |
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Zusammenfassung: | We report two unusual patients with Rothmund-Thomson syndrome (RTS), a rare genodermatosis. The first patient is a 5-year-old girl with congenital poikiloderma, photosensitivity, plantar punctate keratoderma, stunted growth and severe mental retardation. Plantar keratoderma associated with RTS has been reported only once. The second patient is a 21-year-old female presenting with rounded "moon" face, trunk obesity, coeliac disease, short stature and mild mental retardation. This is the first case of RTS associated with coeliac disease. |
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ISSN: | 1581-2979 |