ABSTRACT
Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. We report on a male infant with characteristic skin defects of the face, trunk and extremities, polysyndactyly and unusual ocular and brain findings. He had sclerocornea of the right eye, anterior persistent hyperplastic primary vitreous of the left eye and hydrocephalus. Clinical findings support the diagnosis of Goltz syndrome. The clinical picture of Goltz syndrome is compared with that of MIDAS syndrome.
Subject(s)
Abnormalities, Multiple/pathology , Cornea/abnormalities , Focal Dermal Hypoplasia/pathology , Sclera/abnormalities , Skin Abnormalities/pathology , Syndactyly/pathology , Diagnosis, Differential , Humans , Infant , MaleABSTRACT
Malignant ectomesenchymoma is a rare soft tissue tumor of childhood composed of both mesenchymal and neuroectodermal elements. Reported sites of origin are head and neck, abdomen, perineum, scrotum, and extremities. A new case of an orbital ectomesenchymoma in a 7-year-old boy is presented. The clinical picture of the tumor, radiological findings, and its histopathologic and immunohistochemical characteristics are described. The patient was successfully treated with combined surgical resection and chemotherapy. All the other reported cases of malignant ectomesenchymoma with various sites of origin are also reviewed.
