Introduction:

Goltz syndrome also known as focal dermal hypoplasia is a rare genetic disease in the ectodermal dysplasia´s group and with a mechanism of dominant inheritance linked to the X chromosome.

Objectives:

To describe the clinical characteristics of the Goltz syndrome, its diagnosis and treatment.

Case presentation:

Case of a 4 year-old female patient diagnosed with Goltz syndrome. She was studied by a multidisciplinary team including Genetics, Maxillofacial Surgery, Stomatology, Dermatology, Ophthalmology, Orthopedics and ORL specialists.

Conclusions:

Goltz syndrome or focal dermal hypoplasia is mainly characterized by skin affectations; eyes, dental, skeletal, and face anomalies; gastrointestinal tract, urinary, cardiovascular and central nervous systems´ affections with varying degrees of severity. The diagnosis is clinical. A multidisciplinary approach is essential for a proper diagnosis and treatment; and prognosis depends on the grade of severity.

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