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

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)362-368
Number of pages7
JournalJournal of Pediatric Neurology
Issue number5
Publication statusPublished - Jan 1 2018


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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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