Abstract
Background
Goltz syndrome, or focal dermal hypoplasia, is a rare congenital mesoectodermal syndrome.
It is characterized primarily by extensive cutaneous and musculoskeletal defects.
Case
We report on a 17-year-old menarchal girl diagnosed with a severe form of Goltz syndrome
who was referred to the Gynecology Division at the Children's Hospital Boston. A complete
evaluation revealed a septate hymen, a normal vagina with a single cervix, a bicornuate
uterus, and a unilateral kidney. To our knowledge, there have been no documented cases
of congenital anomalies of the female reproductive tract in patients with Goltz syndrome.
Conclusions
The development of the female reproductive tract is a complex process involving all
three embryonic cell layers. Female patients with multiple abnormalities of ectodermal
and mesodermal origin warrant complete evaluations of their reproductive tracts.
Key Words
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References
- Focal dermal hypoplasia.Arch Dermatol. 1962; 86: 52
- Structural abnormalities of the female reproductive tract.in: Emans S.J. Laufer M.R. Goldstein D.P. Pediatric and Adolescent Gynecology. 5th ed. Williams and Wilkins, Philadelpia, Lippincott2005: 334-416
- Focal dermal hypoplasia: Report of a case with cutaneous and skeletal manifestations.Clin Exp Dermatol. 1998; 23: 281
- Focal dermal hypoplasia with exuberant fat herniations and skeletal derformities.Pediatr Dermatol. 2005; 5: 420
- Focal dermal hypoplasia syndrome: A review of the literature and report of two cases.Arch Dermatol. 1970; 101: 1
- Focal dermal hypoplasia syndrome: An update.Arch Dermatol. 1992; 128: 1108
- Focal dermal hypoplasia (Goltz syndrome) with horseshoe kidney abnormality.Pediatr Dermatol. 1990; 4: 283
Article info
Footnotes
This study was presented in part at the Annual Clinical Meeting of the North American Society for Pediatric and Adolescent Gynecology, Newport Beach, California, 2008.
Identification
Copyright
© 2009 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.
