Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): Description of three new cases and review

Abstract

Cerebello-trigemino-dermal "dysplasia" is a rare neurocutaneous syndrome of craniosynostosis, ataxia, trigeminal anesthesia, scalp alopecia, cerebellar anomaly, midface hypoplasia, corneal opacities, apparently low-set ears, mental retardation, and short stature. It seems to be a sporadic condition but little is known about its cause and pathogenesis in the few cases reported so far. We present three new unrelated patients and magnetic resonance images of the central nervous system, and review the four cases reported previously. We think that this is not such a rare condition, and that it is underdiagnosed.

Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis

“…The alopecia seen in conjunction with RES is distinctive, consisting of focal areas of hypotrichosis, often bilaterally symmetric, which may contain tufts of hair within them. On biopsy, these areas demonstrate preserved architecture with variably hypoplastic hair follicles, and no inflammation or scarring [Munoz et al, 1997; Pasquier et al, 2009a]. …”

Gomez-Lopez-Hernandez syndrome: Expansion of the phenotype

“…Self‐injurious behavior has been documented in all previous cases of this condition, although typically it seems to be unintentional possibly due to the lack of sensory sensation to the face and eyes. [Lopez‐Hernandez, 1982; Pascual‐Castroviejo, 1983; Muñoz et al, 1997]. At 13 years, our patient was diagnosed as having bipolar disorder and is responding well to medication.…”

“…Our patient has several unusual manifestations not typically reported in this syndrome including seizures and growth hormone deficiency. None of the other cases of Gomez‐Lopez‐Hernandez syndrome had growth hormone deficiency although in all cases in which height was reported it was less than the 3rd centile for age [Lopez‐Hernandez, 1982; Muñoz et al, 1997]. Growth hormone deficiency should be considered as a cause of the short stature in individuals with this syndrome.…”

“…Growth hormone deficiency should be considered as a cause of the short stature in individuals with this syndrome. One other individual with this syndrome has also been found to have seizures [Muñoz et al, 1997]. The type of seizure was not reported.…”

“…The first patient with cerebello‐trigeminal‐dermal dysplasia later called Gomez‐Lopez‐Hernandez syndrome was reported in 1979 by Gomez et al Six more patients have since been documented [Lopez‐Hernandez, 1982; Pascual‐Castroviejo, 1983; Muñoz et al, 1997]. The principal findings of this syndrome include craniosynostosis, cerebellar malformation, trigeminal anesthesia, and scalp alopecia.…”