Pseudoxanthoma elasticum - Skin in Adult
Cutaneous lesions often begin in childhood as "leathery" skin at flexural sites but may not be noted until adolescence due to their asymptomatic nature. The disorder is frequently undiagnosed until the third or fourth decade of life. A retinal elastic lamina change, called the angioid streak, is a characteristic of the condition. It appears later than the skin changes but is present in nearly 100% of patients by age 30. Retinal hemorrhages, leading to central vision loss, and GI hemorrhages are potential complications of the disease. Patients may also have hypertension, mitral valve prolapse, and accelerated atherosclerosis. For unknown reasons, PXE is more common in women. There is no known predilection for any ethnicity.
For more information, see OMIM.
Q82.8 – Other specified congenital malformations of skin
252246005 – Pseudoxanthoma elasticum
- Severe photodamage (solar elastosis)
- Poikiloderma (see poikiloderma of Civatte, poikiloderma vasculare atrophicans)
- Cutis laxa
- Ehlers-Danlos syndrome
- Elastosis perforans serpiginosa
- Buschke-Ollendorff syndrome (dermatofibrosis lenticularis)
- Marfan syndrome
- Acquired pseudoxanthoma elasticum
- Focal dermal hypoplasia
- White fibrous papulosis of the neck
- Granulomatous slack skin / cutaneous T-cell lymphoma