Is cutis verticis Gyrata‐Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases

Abstract

Cutis Verticis Gyrata-Intellectual Disability (CVG-ID) syndrome is a rare neurocutaneous syndrome characterized by intellectual disability and scalp folds and furrows that are typically absent at birth and are first noticed after puberty. First reported in 1893, the syndrome was mainly identified in subjects living in psychiatric institutions, where it was found to have a prevalence of up to 11.4%. Most patients were reported in the literature during the first half of the 20th century. CVG-ID is now a less reported and possibly under-recognized syndrome. Here, we report a patient with CVG-ID that was diagnosed using the novel approach of magnetic resonance imaging and we conduct a systematic review of all patients reported in the last 60 years, discussing the core clinical features of this syndrome. © 2016 Wiley Periodicals, Inc.

Primary Essential Cutis Verticis Gyrata: A scalp condition that may appear in various disorders

“…4 Most cases are sporadic, although hereditary cases have been described. 2 The prevalence of CVG is unknown in most South American countries, including Bolivia; however, a Colombian study indicated the prevalence of CVG to be 5.9% among institutionalised patients. 5 Primary essential CVG usually presents in puberty as symmetric scalp folds extending from the vertex to the occiput which cannot be flattened by traction or pressure.…”

“…5 Primary essential CVG usually presents in puberty as symmetric scalp folds extending from the vertex to the occiput which cannot be flattened by traction or pressure. [1][2][3] Typically, the folds resemble the brain cortex and extend anteroposteriorly, although they may also occur in a horizontal direction in the occipital region. Biopsies of the folds show normal skin histopathology.…”

“…1,3 On MRI, CVG has a typical appearance due to the thickening of the skin and subcutaneous tissues, especially with three-dimensional volume rendering. 2 Primary essential CVG must be differentiated from secondary CVG. The latter type can manifest in areas other than the scalp and has been associated with different conditions, such as acromegaly and pachydermo-periostosis.…”

Primary essential cutis verticis gyrata

“…The etiology of CVG is unknown. It is categorized as primary essential, primary non-essential, or secondary ( 1 , 2 ) .…”

“…The secondary form, which can occur at any age, affects men and women with similar frequency; the clinical presentation varies depending on the underlying cause, such causes including cerebriform intradermal nevus, inflammatory dermatoses, endocrine diseases, and genetic syndromes ( 2 , 5 ) . Typically, the scalp folds and furrows seen in CVG show a disordered pattern, with an asymmetric distribution.…”