Document Detail

Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease.
MedLine Citation:
PMID:  16998609     Owner:  NLM     Status:  MEDLINE    
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.
S Popadić; M Nikolić; M Gajić-Veljić; B Bonaci-Nikolić
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta dermatovenerologica Alpina, Pannonica, et Adriatica     Volume:  15     ISSN:  1581-2979     ISO Abbreviation:  Acta Dermatovenerol Alp Pannonica Adriat     Publication Date:  2006 Jun 
Date Detail:
Created Date:  2006-09-25     Completed Date:  2010-07-13     Revised Date:  2014-05-30    
Medline Journal Info:
Nlm Unique ID:  9422563     Medline TA:  Acta Dermatovenerol Alp Pannonica Adriat     Country:  Slovenia    
Other Details:
Languages:  eng     Pagination:  90-3     Citation Subset:  IM    
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MeSH Terms
Celiac Disease / complications*
Child, Preschool
Keratoderma, Palmoplantar / complications*
Rothmund-Thomson Syndrome / complications*,  diagnosis*,  therapy

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