The correct answer is D. Angioid streaks.

Pseudoxanthoma elasticum (PXE) is caused by a genetic mutation in ABCC6. PXE can affect the skin, eyes, and cardiovascular tissue. The most common manifestation is shown in the photo, which contributes to the diseases name. This “plucked chicken skin” appearance develops most commonly over the lateral neck but also occurs in other flexural areas. Yellow-hued papules develop in the teens to 20s and coalesce to form cobblestone-like plaques (yellow papules = pseudoxanthoma). The disease causes calcification and distortion of elastic fibers (elasticum), which can be seen upon biopsy of skin lesions and highlighted by Verhoeff-van Gieson staining (calcium stain). Damage to elastic fibers in vasculature can lead to: renal hypertension, claudication, myocardial infarction, GI hemorrhage, choroidal neovascularization and hemorrhage (the latter two can lead to blindness). Angioid streaks develop when a rupture occurs in Bruch’s membrane. Other conditions that are associated with angioid streaks: Ehlers-Danlos, Paget’s disease of the bone, sickle cell disease, neurofibromatosis, and others.

Comma-shaped corneal opacities are associated with X-linked icthyosis. Retinitis pigmentosa can be caused by Refsum disease (among many others). Congenital hypertrophy of the retinal pigmented epithelium (CHRPE) is associated with Gardner’s syndrome (birds CHRPE in the Garden). Pingueculae are small yellow papules that usually occur on the medial conjunctiva and are associated with ultraviolet light exposure.

References: Bolognia JL, Schaffer JV, Cerroni L. Dermatology – E-Book. Elsevier Health Sciences; 2024.

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