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 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.
Popadić
S
S
Department of Dermatology, School of Medicine, Pasterova 2, 11000 Belgrade, Serbia and Montenegro.
Nikolić
M
M
Gajić-Veljić
M
M
Bonaci-Nikolić
B
B
D000328:Adult; D002446:Celiac Disease / Q000150:complications*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000150:complications*; D011038:Rothmund-Thomson Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy