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

 
 
 

Peutz–Jeghers Syndrome

Figure 2.23 A: Peutz–Jeghers syndrome (Courtesy of Dr. Paul Getz) B: Birt–Hogg–Dube syndrome* C: Birt–Hogg–Dube syndrome* (*Reprint from Morgan MB, Smoller BR, Somach SC. Deadly Dermatologic Diseases. New York, NY: Springer; 2007)
Figure 2.23
A: Peutz–Jeghers syndrome
(Courtesy of Dr. Paul Getz)
B: Birt–Hogg–Dube syndrome*
C: Birt–Hogg–Dube syndrome*
(*Reprint from Morgan MB,
Smoller BR, Somach SC.
Deadly Dermatologic Diseases.
New York, NY: Springer; 2007)
(Figure 2.23A)
  • AD, STK11/LKB1 gene mutation, encodes serine-threonine kinase tumor suppressor
  • Hyperpigmented macules on lip/oral mucosa/fingers (starts in infancy/early childhood) and intestinal polyposis (± bleeding, intussusception)
  • ↑GI adenocarcinoma, ↑ other solid organ malignancies
   
 
PeuTz(S) Jeghers – Threonine Serine kinase
 
   






 
 
 

 

 

 

 

 

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