Focal Dermal Hypoplasia (Goltz Syndrome)

(Figure 2.30B, C)
  • XLD, lethal in males
  • Presents with linear atrophy following Blaschko’s lines following areas of fat herniation, osteopathia striata, colobomas, oral papillomas, lobster claw deformity of hands, syndactyly, alopecia, notched nasal ala
   
 
Goltz – think of a lobster using its claw along the sand causing linear striations (osteopathia striata)
 
   

Figure 2.30 A: Pseudoxanthoma elasticum (Courtesy of Dr. Sophie M. Worobec) B: Osteopathia striata (Reprint from Offlah AC, Hall CM. Radiological diagnosis of constitutional disorders of bone. Pediatric Radiology. 2003; 33 (3): 153–61) C: Focal dermal hypoplasia (Reprint from Burgdorf WH, Plewig G, Wolff HH, Landthaler M, eds. Braun-Falco’s Dermatology. 3rd ed. Heidelberg: Springer; 2009)
Figure 2.30
A: Pseudoxanthoma elasticum
(Courtesy of Dr. Sophie M.
Worobec
)
B: Osteopathia striata
(Reprint from Offiah AC, Hall
CM. Radiological diagnosis of
constitutional disorders of bone.
Pediatric Radiology. 2003; 33
(3): 153–61
)
C: Focal dermal hypoplasia
(Reprint from Burgdorf WH,
Plewig G, Wolff HH,
Landthaler M, eds. Braun-
Falco’s Dermatology. 3rd ed.
Heidelberg: Springer; 2009
)