Author/Editor | Popadić, S; Nikolić, M; Gajić-Veljić, M; Bonači-Nikolić, B | |
Title | Rothmund-Thomson syndrome: the first case with plantar keratoderma and the second with coeliac disease | |
Type | članek | |
Source | Acta Dermatovenerol Alp Pannon Adriat | |
Vol. and No. | Letnik 15, št. 2 | |
Publication year | 2006 | |
Volume | str. 90-3 | |
Language | eng | |
Abstract | 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. | |
Descriptors | POIKILODERMA CONGENITALE KERATODERMA, PALMOPLANTAR CELIAC DISEASE COMORBIDITY |