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 Recessive

  • C: Chronic Granulomatous Disease
  • H: Hunter Disease
  • A: Anhidrotic (Hypohidrotic) Ectodermal Dysplasia (Christ-Siemens-Touraine)
  •    
     Of note, type IX EDS (occipital horn syndrome) is NOT part of the revised EDS classification (since it is NOT due to a collagen defect) and type V is classified as “other” in EDS classification 
       
    D: Dyskeratosis Congenita
  • S: SCID
  • Kinky: Kinky Hair Disease (Menkes Disease)
  • W: Wiskott–Aldrich Syndrome
  • I: Ichthyosis, X-linked
  • F: Fabry Disease
  • E: Ehlers–Danlos Syndrome (type V and IX)
  • C: Chondrodysplasia Punctata (not Conradi–Hünermann type)
  • H: Hypohidrotic ED with Immunodeficiency
  • A: Agammaglobulinemia, Bruton
  • N: Lesch-Nyhan Syndrome
 
 
 
 

 

 

 

 

 

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