Skip to Main Content

  icon Rare
  icon Not so common
  icon Common
  icon Low morbidity
  icon Considerable morbidity
  icon Serious

++

Pseudoxanthoma Elasticum

++

ICD-9: 757.39 ○ ICD-10: Q82.810 Image not available.

++

  • Pseudoxanthoma elasticum (PXE) is a serious hereditary disorder of connective tissue that involves the elastic tissue in the skin, blood vessels, and eyes. Autosomal recessive (most common) and autosomal dominant. Incidence: 1:40,000 to 1:100,000.

  • Etiology and Pathogenesis: Pathogenic mutation in the ABCC6 gene, which encodes MRP6, a member of the ATPase-dependent transmembrane transporter family of proteins. MRP6 can serve as an efflux pump transporting small-molecular-weight glutathione conjugates, which may facilitate calcification of elastic fibers.

  • The principal skin manifestations are a distinctive peau d’ orange surface pattern resulting from closely grouped clusters of yellow (chamois-colored) papules in a reticular pattern on the neck, axillae, and other body folds (Fig. 16-1).

  • The effects on the vascular system include GI hemorrhage, hypertension occurring in young persons and resulting from involvement of renal arteries, and claudication.

  • Ocular manifestations (“angioid” streaks and retinal hemorrhages) can lead to blindness.

  • Dermatopathology: Biopsy of a scar can detect characteristic changes of PXE before typical skin changes are apparent. Swelling and irregular clumping and basophilic staining of elastic fibers, elastic fibers appear curled and “chopped up,” with calcium deposition.

  • Imaging: X-ray—extensive calcification of the peripheral arteries of the lower extremities. Arteriography of symptomatic vessels.

  • The course is inexorably progressive. Gastric artery hemorrhage → hematemesis. Peripheral vascular disease → cerebrovascular accidents, atherosclerosis obliterans, or bowel angina. Pregnancies are complicated by miscarriage, cardiovascular complications. Blindness. Life span is often shortened due to myocardial infarction or massive GI hemorrhage.

  • Management: Genetic counseling. Evaluate family members for PXE. Regular reevaluation by primary care physician and ophthalmologist is mandatory.

  • Support organization: PXE International, www.pxe.org

++
Figure 16-1.

Pseudoxanthoma elasticum Multiple, confluent, chamois-colored or yellow papules (pseudoxanthomatous) create a large, circumferential, pebbled plaque on the neck of a 32-year-old woman. Changes in the connective tissue in this condition lead to excessive folds on the lateral neck.

Graphic Jump Location
++

Tuberous Sclerosis (TS)

++

ICD-9: 759.5 ○ ICD-10: Q85.1 Image not available.

++

  • Tuberous sclerosis is an autosomal-dominant disease arising from a genetically programmed hyperplasia of ectodermal and mesodermal cells and manifested by a variety of lesions in the skin, CNS (hamartomas), heart, kidney, and other organs.

  • The principal early manifestations are the triad of seizures, mental retardation, and congenital white spots.

  • Facial angiofibromata are pathognomonic but do not appear until the third or fourth year.

++

Epidemiology

++
Incidence
++

In mental institutions, 1:100 to 1:300; in general population, 1:20,000 to 1:100,000.

++
Age of Onset
++

Infancy.

++
Sex
++

Equal incidence.

++
Race
++

All races.

++
Heredity
++

Autosomal dominant. TS is caused by mutations in a tumor-suppressor gene, either TSCS1 or TSCS2...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.