Cutis verticis gyrata-intellectual disability syndrome

Cutis verticis gyrata-intellectual disability syndrome (also known as CVG-intellectual disability syndrome or Akesson syndrome) is an extremely rare genetic condition characterized by the combination of cutis verticis gyrata — a condition in which the scalp develops thickened, convoluted folds and furrows that resemble the surface of the brain — and intellectual disability of variable severity. The condition primarily affects the skin of the scalp and the central nervous system. Cutis verticis gyrata typically becomes apparent during childhood or around puberty, with progressive thickening and ridging of the scalp skin. The intellectual disability may range from mild to severe and is usually evident from early childhood. Additional clinical features that have been reported in some affected individuals include seizures, short stature, and other neurological abnormalities. The condition has been described predominantly in males, and some reports suggest an X-linked recessive inheritance pattern, though the exact genetic basis remains incompletely characterized. The syndrome should be distinguished from secondary causes of cutis verticis gyrata, such as acromegaly, pachydermoperiostosis, or inflammatory scalp conditions. There is currently no cure for this syndrome. Management is supportive and multidisciplinary, focusing on educational support and developmental interventions for intellectual disability, antiepileptic medications if seizures are present, and dermatological or surgical management of the scalp folds if they cause cosmetic concern or complications such as secondary infections. Regular neurological and developmental follow-up is recommended.

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