Document Detail

TSC2/PKD1 contiguous gene syndrome: a report of 2 cases with emphasis on dermatopathologic findings.
MedLine Citation:
PMID:  19590422     Owner:  NLM     Status:  MEDLINE    
The association of tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD), termed TSC2/PKD1 contiguous gene syndrome, is a result of molecular defect demonstrating by deletion disrupting TSC2 and PKD1. Dermatopathology of this syndrome has never been addressed. We report 2 sporadic cases form of TSC2/PKD1 contiguous gene syndrome, with emphasis on dermatopathologic findings. Both patients presented with a typical phenotype of TSC and early-onset renal polycystic requiring kidney transplantation in one of the patients. Of a total of 13 cutaneous lesions studied, there were 7 facial angiofibromas, 2 shagreen patches, 1 periungual fibroma, 1 hypopigmented macule, 1 epidermoid cyst, and 1 intradermal melanocytic nevus. The histological features were basically similar to those occurring in TSC, but some unusual features were identified. In both patients, deletions in the region of TSC2 and PKD1 were revealed performing by multiplex ligation probe amplification test. It is concluded that the histopathological features of skin lesions in this syndrome are similar to those encountered in TSC. Clinical awareness and appropriate molecular investigation of TSC2/PKD1 contiguous gene syndrome is necessary in all patients with a typical phenotype of TSC in infancy, adolescence, or adult age, because of severity of the renal alterations.
Denisa Kacerovska; Radek Vrtel; Michal Michal; Tomas Vanecek; Radek Vodicka; Boris Kreuzberg; Renata Ricarova; Karel Pizinger; Dusan Danis; Tomas Reischig; Dmitry V Kazakov
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The American Journal of dermatopathology     Volume:  31     ISSN:  1533-0311     ISO Abbreviation:  Am J Dermatopathol     Publication Date:  2009 Aug 
Date Detail:
Created Date:  2009-07-22     Completed Date:  2009-10-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7911005     Medline TA:  Am J Dermatopathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  532-41     Citation Subset:  IM    
Sikl's Department of Pathology, Charles University, Medical Faculty Hospital, Pilsen, Czech Republic.
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MeSH Terms
Blotting, Southern
Polycystic Kidney, Autosomal Dominant / complications*,  genetics,  pathology
Skin Diseases / genetics,  pathology*
TRPP Cation Channels / genetics*
Tuberous Sclerosis / complications*,  genetics,  pathology
Tumor Suppressor Proteins / genetics*
Young Adult
Reg. No./Substance:
0/TRPP Cation Channels; 0/Tumor Suppressor Proteins; 0/polycystic kidney disease 1 protein; 169027-60-5/tuberous sclerosis complex 2 protein

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