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    
Abstract/OtherAbstract:
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.
Authors:
S Popadić; M Nikolić; M Gajić-Veljić; B Bonaci-Nikolić
Related Documents :
2240029 - Dandy-walker variant malformation, spastic paraplegia, and mental retardation in two sibs.
3351889 - Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.
16268889 - Ichthyosis follicularis, alopecia and photophobia (ifap) syndrome treated with acitretin.
11731879 - Cutis verticis gyrata, mental retardation and lennox-gastaut syndrome: a case report.
8725789 - Novel findings in a patient with weaver or a weaver-like syndrome.
495649 - Cytogenetic findings in roberts-sc phocomelia syndrome(s).
7198189 - Kluver-bucy syndrome in pick disease: clinical and pathologic correlations.
10650389 - Incontinentia pigmenti: overcoming cosmetic challenges.
11148489 - B-cell lymphoma in a patient with whim syndrome.
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
Celiac Disease / complications*
Child, Preschool
Female
Humans
Keratoderma, Palmoplantar / complications*
Rothmund-Thomson Syndrome / complications*,  diagnosis*,  therapy

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Branchial cysts. A report of 4 cases.
Next Document:  Zosteriform lichen planus-like eruption.