Pseudoxanthoma elasticum in Adult
Cutaneous manifestations often begin in childhood or early adulthood. Individuals develop asymptomatic yellowish papules on the neck, and later on the flexural surfaces, that coalesce into cobblestone-like plaques, resembling "plucked chicken skin." Lesions may also involve oral and anogenital mucosae, and long-standing disease can lead to perforating lesions due to increased dermal deposition of calcium that extrudes through the epidermis. Characteristic eye findings are angioid streaks. Potential complications of PXE are retinal hemorrhages, which lead to central vision loss, and gastrointestinal hemorrhage. Patients experience accelerated atherosclerosis and are at higher risk of developing hypertension, intermittent claudication, angina / myocardial infraction, stroke, and mitral valve prolapse.
A PXE-like syndrome may also be precipitated by long-term D-penicillamine use for the treatment of cystinuria or Wilson disease.
Q82.8 – Other specified congenital malformations of skin
252246005 – Pseudoxanthoma elasticum
Differential Diagnosis & Pitfalls
- Severe photodamage (solar elastosis) – Photodistributed, older adults.
- Focal dermal elastosis – Seen in elderly patients.
- Perforating calcific elastosis – Acquired, localized PXE-like condition.
- Fibroelastolytic papulosis – This term has been proposed to encompass the entities of white fibrous papulosis of the neck and acquired PXE-like papillary dermal elastolysis.
- Acquired pseudoxanthoma elasticum – From D-penicillamine, sickle cell disease, or thalassemia.
- Ehlers-Danlos syndrome
- Elastosis perforans serpiginosa
- Cutis laxa
- Buschke-Ollendorff syndrome (dermatofibrosis lenticularis)
- Marfan syndrome
- Granulomatous slack skin / cutaneous T-cell lymphoma