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

 
 
 

X-Linked Dominant

  •    
     BIG ChOMP 
       
    B: Bazex Syndrome (do not confuse with acrokeratosis paraneoplastica {Bazex syndrome})
  • I: Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)
  • G: Goltz Syndrome (Focal Dermal Hypoplasia)
  • C: CHILD Syndrome
  • h: –
  • O: Oro-Facial-Digital Syndrome
  • M: MIDAS Syndrome (micrognathia, dermal aplasia, sclerocornea)
  • P: Chondrodysplasia Punctata (Conradi–Hünermann type)
 
 
 
 

 

 

 

 

 

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