All issues > Volume 37(7); 1994

Case Report

J Korean Pediatr Soc. 1994;37(7):994-998. Published online July 15, 1994.

A Case of Goltz Syndrome

Won Rae WR Kim¹, Hyang Joo HJ Kim¹, Ghee Young GY Jung¹, Jin Gun JG Bang¹, Du Bong DB Lee¹, Jung Hee JH Park²

¹Department of Pediatrics, St. Francisco General Hospital, Seoul, Korea
²Department of Anatomic Pathology, St. Francisco General Hospital, Seoul, Korea

Abstract

Goltz syndrome is known as a rare mesoectodermal hereditary disease, characterized by focal dermal atrophies with hernias of adipose tissue and also associated with a multitude of possible skeletal, dental, ophthalmological and other abnormalities. We experienced a case of Goltz syndrome. An one day old female newborn had focal atrophic and telangiectatic skin lesions, microphthalmia, syndactyly and urinary tract abnormality. The finding of skin biopsy was consistent with focal dermal hypoplasia. We report the case with a brief review and related literatures.

Keywords :Goltz syndrome, Focal dermal hypoplsia