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

 
 
 

Ataxia-Telangiectasia 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 2.20A) Ataxia-Telangiectasia Syndrome (Figure 2.20A)
  • AR, ATM gene mutation, inability to repair chromosomal strand breaks, sensitivity to ionizing radiation
  • Presents first with ataxia (2–3 years old) → telangiectasias on bulbar conjunctivae (spreads to cheeks/ears), premature aging (atrophic/sclerotic face), ↓ Purkinje fibers in cerebellum
  • Defects in cellular and humoral immunity (↓ IgA, IgG, IgE), severe and frequent sinopulmonary infections, ↑ lymphoreticular malignancy, ↑ breast CA


 
 
 

 

 

 

 

 

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