Case Report| Volume 22, ISSUE 4, e71-e72, August 2009

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Congenital Anomalies of the Female Reproductive Tract in a Patient with Goltz Syndrome



      Goltz syndrome, or focal dermal hypoplasia, is a rare congenital mesoectodermal syndrome. It is characterized primarily by extensive cutaneous and musculoskeletal defects.


      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.


      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.

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        • Goltz R.W.
        • Peterson W.C.
        • Gorlin R.J.
        • et al.
        Focal dermal hypoplasia.
        Arch Dermatol. 1962; 86: 52
        • Laufer M.R.
        • Goldstein D.P.
        • Hendren W.H.
        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
        • Hardman C.M.
        • Garioch J.J.
        • Eady R.A.J.
        • et al.
        Focal dermal hypoplasia: Report of a case with cutaneous and skeletal manifestations.
        Clin Exp Dermatol. 1998; 23: 281
        • Miranda S.B.
        • Delmaestro D.
        • Bertoli R.
        • et al.
        Focal dermal hypoplasia with exuberant fat herniations and skeletal derformities.
        Pediatr Dermatol. 2005; 5: 420
        • Goltz R.W.
        • Henderson R.R.
        • Hitch J.M.
        • et al.
        Focal dermal hypoplasia syndrome: A review of the literature and report of two cases.
        Arch Dermatol. 1970; 101: 1
        • Goltz R.W.
        Focal dermal hypoplasia syndrome: An update.
        Arch Dermatol. 1992; 128: 1108
        • Suskan E.
        • Kurkcuoglu N.
        • Uluoglu U.
        Focal dermal hypoplasia (Goltz syndrome) with horseshoe kidney abnormality.
        Pediatr Dermatol. 1990; 4: 283