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

 
 
 
 

Rothmund–Thomson Syndrome (Poikiloderma Congenitale)

  • Figure 2.19 A: Xeroderma pigmentosum (Courtesy of Dr. Michelle B. Bain) B: Xeroderma pigmentosum (Courtesy of Dr. Michelle B. Bain) C: Rothmund-Thomson (Reprint from Burgdorf WH, Plewig G, Wolff HH, Landthaler M, eds. Braun-Falco’s Dermatology. 3rd ed. Heidelberg: Springer; 2009)
    Figure 2.19
    A: Xeroderma pigmentosum
    (Courtesy of Dr. Michelle
    B. Bain    )
    B: Xeroderma pigmentosum
    (Courtesy of Dr. Michelle
    B. Bain    )
    C: Rothmund-Thomson
    (Reprint from Burgdorf WH,
    Plewig G, Wolff HH,
    Landthaler M, eds.
    Braun-Falco’s Dermatology. 3rd
    ed. Heidelberg: Springer; 2009    )
    AR, RECQL4 (DNA helicase)
  • Presents with photodistributed erythema and vesicles on face in first few months of life, evolves into poikiloderma and extends to buttocks and extremities, premalignant acral keratoses, alopecia, cataracts, hypoplastic thumbs/ radii/ulnae, ↑ risk osteosarcoma, normal intelligence
   
 
Rothmund Thomson – Reduced Thumbs
ROTH (4 letters) – RecQL4
 
   


 
 
 

 

 

 

 

 

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