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

 
 
 

Syndromes of Tumor Suppression

Basal Cell Nevus Syndrome (Gorlin Syndrome)
Figure 2.20 A: Ataxia-Telangiectasia (Reprint from Morgan MB, Smoller BR, Somach SC. Deadly Dermatologic Diseases. New York, NY: Springer; 2007) B: Basal cell nevus syndrome* C: Palmar pits (BCNS)* *Courtesy of Dr. Paul Getz
Figure 2.20
A: Ataxia-Telangiectasia
(Reprint from Morgan MB,
Smoller BR, Somach SC.
Deadly Dermatologic Diseases.
New York, NY: Springer; 2007)
B: Basal cell nevus syndrome*
C: Palmar pits (BCNS)*
*Courtesy of Dr. Paul Getz
(Figure 2.20B, C)
  • AD, PTCH (PATCHED) gene, inhibits sonic hedgehog signaling (unbound PTCH inhibits Smoothened (SMO) signaling; when inactivating mutation occurs in PTCH → repression of SMO removed → constitutive activation of Gli and downstream targets)
  • Presents with numerous BCCs, palmar/plantar pits, odontogenic keratocysts of jaw, characteristic facies (frontal bossing, hypertelorism), cataracts, glaucoma, bifid ribs, calcification of falx cerebrum, agenesis of corpus callosum, ovarian fibromas, medulloblastoma, meningioma



 
 
 

 

 

 

 

 

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