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July 1997

Pathological Case of the Month

Author Affiliations

From the Department of Pediatrics, Gaziantep University, Faculty of Medicine, Gaziantep, Turkey.

Arch Pediatr Adolesc Med. 1997;151(7):741-742. doi:10.1001/archpedi.1997.02170440103019

A 21/2-year-old boy presented with the complaint of high fever (temperature, 39°C), anhidrosis, and malformation of teeth. He was a full-term infant born to nonconsanguineous parents as a brother of a dizygotic pregnancy. His twin sister and the first daughter of the parents were healthy.

Although he had frequent high fevers (temperatures, 37.5°C-38.5°C) and heat intolerance without demonstrated infections, he did not sweat. He had no teeth until 11/2 years of age. Results of a physical examination of the head and neck demonstrated frontal bossing and saddle nose. The child had fine blond scalp hair, eyebrows, and eyelashes and his canine teeth were pegshaped and conical (Figure 1). Most of his other teeth were missing. A skin biopsy was performed (Figure 2).

Diagnosis and Discussion

Ectodermal Dysplasia

E ctodermal dysplasia is a heterogeneous group of disorders. It is broadly classified into 2 groups: (1) anhidrotic or hypohidrotic type and (2)