Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature

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Abstract

Focal dermal hypoplasia (FDH) is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes. We present the case of a 26-year-old female in the 27th pregnancy week and a previous history of miscarriage. After careful physical examination and dermal biopsy, histopathology revealed that the patient was a carrier of FDH. This is the first report in the literature describing that FDH is associated with uterus bicornis and renal ectopia. Our association could be attributable to early embryonic abnormalities related with FDH because both the uterus bicornis and the renal ectopia originate around the 3th-6th week of embryonic development. We are unable to confirm that the miscarriages were caused by inherited FDH or that uterus bicornis was the cause. We conducted a literature review using the following terms: FDH, Goltz syndrome, uterus bicornis, and renal ectopia.

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Most cited references 14

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Focal dermal hypoplasia.

R GOLTZ, R Gorlin, H G RAVITS … (1962)

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Reproductive performance of women with müllerian anomalies.

Beth Rackow, Aydin Arici (2007)

This review discusses current diagnostic techniques for müllerian anomalies, reproductive outcome data, and management options in reproductive-age women. Multiple retrospective studies have investigated reproductive outcomes with müllerian anomalies, but few current prospective studies exist. Uterine anomalies are associated with normal and adverse reproductive outcomes such as recurrent pregnancy loss and preterm delivery, but not infertility. Furthermore, unicornuate, didelphic, bicornuate, septate, arcuate, and diethylstilbestrol-exposed uteri have their own reproductive implications and associated abnormalities. Common presentations of müllerian anomalies and current diagnostic techniques are reviewed. Surgical intervention for müllerian anomalies is indicated in women with pelvic pain, endometriosis, obstructive anomalies, recurrent pregnancy loss, and preterm delivery. Although surgery for most uterine anomalies is a major intervention, the uterine septum is preferentially managed with a hysteroscopic procedure. Several recent studies and review articles discuss management of the septate uterus in asymptomatic women, infertile women, and women with a history of poor reproductive outcomes. Current assessment of reproductive outcomes with uterine anomalies and management techniques is warranted. Müllerian anomalies, especially uterine anomalies, are associated with both normal and adverse reproductive outcomes, and management in infertile women remains controversial.

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Unicornuate uterus and rudimentary horn.

Pentti K. Heinonen (1997)

To evaluate clinical implications of the unicornuate uterus and rudimentary horn. A retrospective study. A university hospital. Forty-two women who had a unicornuate uterus with or without rudimentary horn. The rudimentary horn was removed in 21 cases. Presence of other anomalies, fertility, and outcome of pregnancies were studied. A right unicornuate uterus with noncommunicating rudimentary horn was the most common type of uterine anomaly. Unilateral renal agenesis was found in 13 (38%) of 34 cases. Six (14%) of the 42 patients had primary infertility. Thirty-four women produced 93 pregnancies; ectopic pregnancy (EP; rudimentary horn, tubal) occurred in 20 of these cases (22%). The pregnant uterine horn ruptured in 3 of 7 cases. Eight (57%) of the 14 women with infertility underwent treatment by IVF-ET; 4 of them conceived, and 2 had term delivery. The fetal survival rate was 61%, prematurity 17%, fetal growth retardation 5%, and the spontaneous intrauterine (IU) abortion rate was 16%. Pregnancy-induced hypertension (PIH) was more common in women lacking a kidney than in those with two kidneys. The high number of EPs indicates removal of rudimentary horn and its tube when diagnosed. The prognosis of IU pregnancy is not impaired in the unicornuate uterus although prematurity threatens. Unilateral renal agenesis is associated with PIH.

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Author and article information

Journal

Journal ID (nlm-ta): Case Rep Dermatol

Journal ID (publisher-id): CDE

Title: Case Reports in Dermatology

Publisher: S. Karger AG (Allschwilerstrasse 10, P.O. Box · Postfach · Case postale, CH–4009, Basel, Switzerland · Schweiz · Suisse, Phone: +41 61 306 11 11, Fax: +41 61 306 12 34, karger@karger.ch )

ISSN (Electronic): 1662-6567

Publication date Collection: May-Aug 2011

Publication date (Electronic): 12 August 2011

Publication date PMC-release: 12 August 2011

Volume: 3

Issue: 2

Pages: 158-163

Affiliations

[1] ^aHospital General del Sur, Benemérita Universidad Autónoma de Puebla, y, Puebla, México

[2] ^bHospital Universitario de Puebla, Benemérita Universidad Autónoma de Puebla, y, Puebla, México

[3] ^cFacultad de Medicina, Universidad Popular Autónoma de Puebla, Puebla, México

Author notes

*Elena Soto-Vega, 21 Sur 1103, Colonia Santiago, Puebla 72410 (México), Tel. +52 222 229 9400, ext. 7714, E-Mail elena.soto01@ 123456upaep.mx

Article

Publisher ID: cde0003-0158

DOI: 10.1159/000330733

PMC ID: 3177835

PubMed ID: 21941481

SO-VID: 33b6e8b6-51eb-4095-a086-9f22c8ff33f7

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial-No-Derivative-Works License ( http://creativecommons.org/licenses/by-nc-nd/3.0/). Users may download, print and share this work on the Internet for noncommercial purposes only, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions.

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