OBSOLETE: Van den Bosch syndrome

Van den Bosch syndrome (Orphanet code 3417) is an extremely rare X-linked condition that was originally described in a single family by Van den Bosch in 1959. The syndrome was characterized by a combination of choroideremia (progressive degeneration of the choroid, retinal pigment epithelium, and photoreceptors in the eye leading to vision loss), intellectual disability, acrokeratosis verruciformis (wart-like skin lesions on the hands and feet), and skeletal anomalies including anhidrosis (reduced or absent sweating). The condition primarily affects the eyes, skin, nervous system, and skeletal system. This entry is now considered obsolete in Orphanet, as the features described in the original family are believed to represent the co-occurrence of choroideremia (which is a well-established X-linked recessive condition caused by mutations in the CHM gene) with other coincidental findings, rather than a distinct syndromic entity. The choroideremia component leads to progressive night blindness and peripheral visual field loss, eventually resulting in significant visual impairment. There is no specific curative treatment for the condition as originally described; management is supportive and directed at individual symptoms, including ophthalmologic monitoring and dermatologic care. Gene therapy approaches for choroideremia are under active investigation and represent a promising avenue for the retinal component of the phenotype.

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