Content

»Genodermatoses
»X-Linked Recessive
»X-Linked Dominant
»Syndromes with Defective DNA Repair
»Xeroderma Pigmentosum
»Cockayne Syndrome
»Trichothiodystrophy
»Bloom Syndrome
»Rothmund–Thomson Syndrome
»Dyskeratosis Congenita
»Ataxia-Telangiectasia Syndrome
»Fanconi Syndrome
»Syndromes of Tumor Suppression
»Basal Cell Nevus Syndrome (Gorlin Syndrome)
»Neurofibromatosis, Type I (Von Recklinghausen Disease)
»Neurofibromatosis, Type II (Bilateral Acoustic NF)
»Carney Syndrome (NAME or LAMB Syndrome)
»Muir–Torre Syndrome
»Tuberous Sclerosis
»Cowden Syndrome (Multiple Hamartoma Syndrome)
»Multiple Endocrine Neoplasia (MEN)
»Bannayan–Riley–Ruvalcaba Syndrome
»LEOPARD Syndrome (Multiple Lentigines Syndrome)
»Peutz–Jeghers Syndrome
»Gardner Syndrome
»Birt–Hogg–Dubé Syndrome
»Dysplastic Nevus Syndrome

 
 
 

Dyskeratosis Congenita (Zinsser-Engman-Cole Syndrome)

  • Two forms: XLR and AD
  • XLR, DKC1 gene mutation, encodes protein dyskerin (interacts with telomerase, ↑ sister chromatid exchanges
  • AD, hTR (human telomerase RNA component) and hTERT (human telomerase reverse transcriptase) mutations
  • Cutaneous poikiloderma (face, trunk, thighs), nail dystrophy (atrophy, pterygium), premalignant leukoplakia (buccal mucosa most common), frictional bullae, palmoplantar hyperhidrosis
  • Bone marrow failure with anemia, thrombocytopenia, or pancytopenia → major cause of mortality
  • ↑ CA: mucosal SCC, Hodgkin’s lymphoma, AML
   
 
DYSkeRaTOS is – DYS trophy (nails), mR, Thrombocytopenia,
Oral premalignant leukoplakia, Sun avoidance (poikiloderma)
 
   


 
 
 

 

 

 

 

 

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