Pseudoxanthoma elasticum - Skin in Child
Cutaneous lesions often begin in childhood as small yellowish papules that appear "leathery" or like "plucked chicken skin" at flexural sites but may not be noted until adolescence because of their asymptomatic nature. The disorder is frequently undiagnosed until the third or fourth decade. A retinal elastic lamina change (angioid streak) is a characteristic of the condition. It appears later than the skin changes and is present in nearly 100% of patients by age 30. Retinal hemorrhages, leading to central vision loss, and gastrointestinal hemorrhages (usually gastric) 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 females. A PXE-like syndrome may also be precipitated by long-term D-penicillamine usage for the treatment of cystinuria or Wilson disease. Twenty percent of patients with sickle cell disease and thalassemias have eye findings similar to PXE.
Perforating lesions are rarely seen in children.
The estimated prevalence is 1/100 000. There is no known predilection for any ethnicity.
Q82.8 – Other specified congenital malformations of skin
252246005 – Pseudoxanthoma elasticum
- Matrix Gla protein activator genetic defect has much earlier onset and similar findings to PXE.
- Severe photodamage (solar elastosis) – As seen in xeroderma pigmentosum (XP) and XP syndromes; poikiloderma may be a clue to a defect in DNA repair.
- Cutis laxa
- Ehlers-Danlos syndrome
- Elastosis perforans serpiginosa
- Buschke-Ollendorff syndrome (dermatofibrosis lenticularis)
- Marfan syndrome
- Acquired pseudoxanthoma elasticum – From D-penicillamine, sickle cell disease, or thalassemia.
- Focal dermal hypoplasia – Often seen in neonates.
- White fibrous papulosis of the neck
- Granulomatous slack skin / cutaneous T-cell lymphoma