J Korean Surg Soc.  2011 Mar;80(3):238-240. 10.4174/jkss.2011.80.3.238.

Goltz Syndrome Associated with Omphalocele

• Lee HW
• Byun CS
• Hong J

• KMID: 1963589
• DOI: http://doi.org/10.4174/jkss.2011.80.3.238

Abstract

Goltz syndrome is a rare congenital disorder characterized by ectodermal and mesodermal dysplasia with multisystem defects. It was first reported in 1962 by Goltz as a focal dermal hypoplasia. More than 200 cases of Goltz syndrome were reported in the world literature, and 5 cases have been reported in Korea since 1994. There were few descriptions in the literature regarding surgical experience in Goltz syndrome. We report a female neonate born with omphalocele associated with Goltz syndrome that included typical cutaneous manifestations and a lobster-claw defect of the left foot. Omphalocele was successfully closed by staged reduction without any wound problems.

Keyword

Omphalocele; Goltz syndrome; Focal dermal hypoplasia

MeSH Terms

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Ectoderm
Female
Focal Dermal Hypoplasia*
Foot
Hernia, Umbilical*
Humans
Infant, Newborn
Korea
Mesoderm
Wounds and Injuries

Figure

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  Fig. 1 Omphalocele and multiple macular erythematous skin lesions in anterior and lateral aspect of trunk, both upper and lower extremities.

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  Fig. 2 Abnormal shaped left ear.

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  Fig. 3 Lobster-claw shaped anomaly of left foot.

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  Fig. 4 Light microscopy of affected skin. The epidermis is normal. The dermis is replaced by adipose tissue. A thin layer of collagen is seen beneath the basal membrane. H&E stain, ×100.

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