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»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

 
 
 

Neurofibromatosis, Type I (Von Recklinghausen Disease)

(Figure 2.21A–C)
  • Figure 2.21 A: CALMs* B: Neuroflbromatosis* C: Neuroflbromatosis* * Courtesy of Dr. Paul Getz
    Figure 2.21
    A: CALMs*
    B: Neurofibromatosis*
    C: Neurofibromatosis*
    * Courtesy of Dr. Paul Getz
    AD, NF-1 gene, encodes neurofibromin (tumor suppressor protein)
  • Criteria: two or more of the following six:

    •    
     
       
     Cafe au lait macule (CALM):
    > 0.5 cm prepubertal, >1.5 cm postpubertal    		 
       
    Six or more CALMs or two or more neurofibromas or one plexiform neurofibroma
    Axillary or inguinal freckling (Crowe’s sign)
    Optic glioma
    Lisch nodules
    Sphenoid wing dysplasia or thinning cortex of long bone
    First degree relative with NF
    		 
       

  • ↑ Risk of tumors: optic glioma, malignant peripheral nerve sheath tumor, neurosarcoma, juvenile myelomonocytic leukemia, rhabdomyosarcoma
  • ± Hypertension, mental retardation (MR), seizures, kyphoscoliosis, endocrine disorder (precocious puberty, acromegaly, thyroid/parathyroid abnormalities)

 
 
 

 

 

 

 

 

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