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

 
 
 

Tuberous Sclerosis

(Figure 2.22A, B)
  • Figure 2.22 A: Angioflbromas in TS (Courtesy of Dr. Michelle B. Bain) B: Koenen tumor in TS (Courtesy of Dr. Paul Getz) C: Cowden syndrome (Reprint from Morgan MB, Smoller BR, Somach SC. Deadly Dermatologic Diseases. New York, NY: Springer; 2007)
    Figure 2.22
    A: Angiofibromas in TS
    (Courtesy of Dr. Michelle
    B. Bain    )
    B: Koenen tumor in TS
    (Courtesy of Dr. Paul Getz)
    C: Cowden syndrome
    (Reprint from Morgan MB,
    Smoller BR, Somach SC.
    Deadly Dermatologic Diseases.
    New York, NY: Springer; 2007    )
    AD, TSC1 gene mutation (hamartin), and TSC2 (tuberin)
  • Ash-leaf macules (earliest finding), facial angiofibromas, connective tissue nevi (shagreen patch), fibromas (gingival and subungual), CALMs, dental enamel pits
  • Renal angiomyolipomas, retinal hamartomas, seizures, pulmonary lymphangioleiomyomatosis, cortical tubers, cardiac rhabdomyoma




 
 
 

 

 

 

 

 

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