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

 
 
 

Bloom Syndrome

  • AR, BLM gene mutation, RecQ protein-like two (RecQL2, some sources say RecQL3 {Spitz}), DNA helicase family, mutation results in ↑ spontaneous sister chromatid exchanges, breakage, and rearrangements
  • Presents with photodistributed erythema/telangiectasias over cheeks within first few weeks of life, short stature, normal intelligence, immune deficiency causing chronic respiratory/GI infections, ↓ fertility, ↓ IgM/ IgA, high-pitched voice
  • ↑ Risk cancer: leukemia, lymphoma, GI adenocarcinoma
   
 
BLooM – 2 O’s (RecQL2)
Butterfly rash, Leukemia, iMmune deficiency, ↓ IgM
 
   

 
 
 

 

 

 

 

 

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