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