Acromegaly-cutis verticis gyrata-corneal leukoma syndrome

Acromegaly-cutis verticis gyrata-corneal leukoma syndrome (also known as Rosenthal-Kloepfer syndrome) is an extremely rare genetic condition characterized by the triad of acromegaly, cutis verticis gyrata, and corneal leukoma. Acromegaly in this context refers to progressive enlargement of the hands, feet, and facial features (particularly the jaw and brow), resembling the changes seen in growth hormone excess but occurring as a primary genetic condition rather than due to a pituitary tumor. Cutis verticis gyrata describes a thickening and folding of the scalp skin that creates deep furrows resembling the gyri (ridges) of the brain surface. Corneal leukoma refers to dense, white opacification of the cornea, which can significantly impair vision. The syndrome affects multiple body systems, including the skeletal system (with progressive bony overgrowth and coarsening of facial features), the skin (with the characteristic scalp changes and sometimes generalized skin thickening), and the eyes (with corneal opacities that may be present from birth or develop progressively). Some patients may also exhibit intellectual disability and other neurological features. The condition has been reported in only a handful of families in the medical literature, making it one of the rarest described genetic syndromes. There is no specific curative treatment for this syndrome. Management is supportive and multidisciplinary, involving ophthalmologists for corneal disease (corneal transplantation may be considered for visual impairment), dermatologists for skin manifestations, and orthopedic or craniofacial specialists for skeletal complications. Genetic counseling is recommended for affected families.

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