Document Detail

Classic Ehlers-Danlos syndrome: Case Report and Brief Review of Literature.
MedLine Citation:
PMID:  24001420     Owner:  NLM     Status:  In-Data-Review    
Easy bruising in children represents a diagnostic conundrum. Although trauma (accidental or not) and bleeding disturbances are the most common causes, other rarer etiologies should be considered in differential diagnosis. When a 4-year-old male patient presented with a history of bruising and hematomas after slight injuries, coagulopathy and physical abuse were suspected. However, the presence of skin hyperextensibility, generalized joint hypermobility, atrophic and "cigarette paper" scars, pes planus, piezogenic pedal papules, and similar clinical picture in the mother, maternal uncle and grandfather suggested a diagnosis of Ehlers-Danlos syndrome, classic type. Genetic study revealed a heterozygous variant (c.379C>T) in exon 3 of the COL5A1 gene, not previously described in the literature, confirming the clinical suspicion. The authors intend to draw attention to this rare and diagnostically challenging condition that should be correctly diagnosed for the early adoption of preventive measures.
Paulo Morais; Olga Ferreira; Sofia Magina; Cármen Silva; Miguel Leão; Ana Maia; Filomena Azevedo
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Acta dermatovenerologica Croatica : ADC     Volume:  21     ISSN:  1847-6538     ISO Abbreviation:  Acta Dermatovenerol Croat     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-09-04     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9433781     Medline TA:  Acta Dermatovenerol Croat     Country:  Croatia    
Other Details:
Languages:  eng     Pagination:  118-22     Citation Subset:  IM    
Paulo Morais, MD, Department of Dermatology and Venereology, Hospital São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal;
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