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

 
 
 

Cockayne Syndrome

  • AR, defective excision repair: unable to repair c yclobutane pyrimidine dimer products after irradiation, ↑ chromosomal breaks
  • Two complementation groups: CS-A (ERCC8) and CS-B (ERCC6)
  • Presents with photosensitivity, mental retardation, cachectic dwarfism, peripheral neuropathy, sunken eyes, prominent ears, “salt and pepper” retinitis pigmentosa, dental caries, thinning hair, basal ganglia calcification
   
 
COCKAYN E – eight letters (ERCC8), Cachectic dwarfism, Ocular (salt/pepper RP), Cataracts, Avoid sun, Ears (“mickey mouse”)
 
   

 
 
 

 

 

 

 

 

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