(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) | | | | |
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| | 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) |
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