Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)

Federica Sullo; Andrea D. Praticò; Agata Polizzi; Stefano Catanzaro; Selene Mantegna; Francesco Lacarrubba; Giuseppe Micali; Agata Fiumara; Pierluigi Smilari; Filippo Greco; Carmelo Schepis; Concetta Pirrone; Antonio Zanghì; Ignacio Pascual-Castroviejo; Martino Ruggieri

doi:10.1055/s-0038-1667021

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2018; 16(05): 362-368
DOI: 10.1055/s-0038-1667021

Review Article

Georg Thieme Verlag KG Stuttgart · New York

Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)

Federica Sullo

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

,

Andrea D. Praticò

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

²Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom

,

Agata Polizzi

³Instiute of Neurological Science, National Research Council, Catania, Italy

,

Stefano Catanzaro

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

,

Selene Mantegna

¹⁰Post-graduate School of Pediatrics, Anna Meyer Children's University Hospital, Department of Health Science University of Florence, Florence, Italy

,

Francesco Lacarrubba

⁴Dermatology Clinic, University of Catania, Catania, Italy

,

Giuseppe Micali

⁴Dermatology Clinic, University of Catania, Catania, Italy

,

Agata Fiumara

⁵Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

,

Pierluigi Smilari

⁵Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

,

Filippo Greco

⁵Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

,

Carmelo Schepis

⁶Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy

,

Concetta Pirrone

⁷Section of Psychology, Department of Educational Sciences University of Catania, Catania, Italy

,

Antonio Zanghì

⁸Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy

,

Ignacio Pascual-Castroviejo

⁹Servicio de Neurología, Hospital Universitario La Paz, Madrid, España

,

Martino Ruggieri

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

› Author Affiliations

Abstract

Cerebellotrigeminal dermal (CTD) dysplasia is a rare neurocutaneous disorder characterized by a triad of symptoms: bilateral parieto-occipital alopecia, facial anesthesia in the trigeminal area, and rhombencephalosynapsis (RES), confirmed by cranial magnetic resonance imaging. CTD dysplasia is also known as Gómez-López-Hernández syndrome. So far, only 35 cases have been described with varying symptomatology. The etiology remains unknown. Either spontaneous dominant mutations or de novo chromosomal rearrangements have been proposed as possible explanations. In addition to its clinical triad of RES, parietal alopecia, and trigeminal anesthesia, CTD dysplasia is associated with a wide range of phenotypic and neurodevelopmental abnormalities.

Treatment is symptomatic and includes physical rehabilitation, special education, dental care, and ocular protection against self-induced corneal trauma that causes ulcers and, later, corneal opacification. The prognosis is correlated to the mental development, motor handicap, corneal–facial anesthesia, and visual problems. Follow-up on a large number of patients with CTD dysplasia has never been reported and experience is limited to few cases to date. High degree of suspicion in a child presenting with characteristic alopecia and RES has a great importance in diagnosis of this syndrome.

Keywords

cerebellotrigeminal dermal dysplasia - Gómez-López-Hernández - rhombencephalosynapsis - alopecia - trigeminal anesthesia

Full Text

References

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