Aplasia cutis-myopia syndrome

Aplasia cutis-myopia syndrome is an extremely rare genetic condition characterized by the combination of aplasia cutis congenita (a congenital absence or defect of skin, typically on the scalp) and high-grade myopia (severe nearsightedness). This syndrome was described in a small number of families, where affected individuals presented with localized areas of missing skin at birth, most commonly on the scalp, along with significant refractive errors of the eyes. The condition primarily affects the integumentary system (skin) and the visual system. Aplasia cutis congenita manifests as well-demarcated areas where the skin failed to develop normally during fetal life. These lesions may appear as ulcers or may be covered by a thin membrane at birth, and they typically heal with scarring. The associated myopia in this syndrome tends to be of high degree and may be recognized in early childhood. The combination of these two features in a familial pattern distinguishes this syndrome from isolated aplasia cutis congenita or isolated myopia. Treatment is symptomatic and supportive. Skin defects are managed with wound care and, if needed, surgical intervention for larger lesions or cosmetic concerns. Myopia is corrected with glasses, contact lenses, or potentially refractive surgery in adulthood. Regular ophthalmologic follow-up is recommended to monitor for complications of high myopia, such as retinal detachment. Given the rarity of this condition, no specific targeted therapies exist.

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