Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID)

Hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) is a disorder that is allelic to IP. Affected males exhibit hypotrichosis with fine, sparse, and light-colored scalp and body hair. Patients show a decreased ability to sweat, which often leads to severe heat intolerance. In addition, hypodontia and conical or peg shaped teeth are also observed in affected individuals. Facial features are characterized by dark pigmented skin around the eyes, a saddle nose, and full lips. Defects in secretions from the lacrimal, meibomian, and other secretory glands result in thick nasal secretion and cerumen. Absent or accessory nipples are not uncommon. These patients also present with recurrent infections of the digestive tract, respiratory tract, and skin infections that may result in hospitalizations.

Tests Available

Forms and Documents

Test Details

IKBKG (NEMO)
  • Confirmation of a clinical diagnosis
  • Carrier detection in female relatives
  • Differentiation between forms of the hypohidrotic ectodermal dysplasia
  • Prenatal diagnosis in at-risk pregnancies
  • Long Range PCR

Ordering

2861
4 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81479x1
No
Yes
  • 757.31 Congenital ectodermal dysplasia
  • 757.33 Congenital pigmentary anomalies of skin, Congenital poikiloderma, Urticaria pigmentosa, Xeroderma pigmentosum
  • 520 Disorders of tooth development and eruption
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
  • 361 Retinal detachments and defects
  • 757.4 Specified anomalies of hair; Congenital: alopecia atrichosis, beaded hair hypertrichosis, monilethrix, Persistent lanugo
* For price inquiries please email zebras@genedx.com

References

  1. Aradhya S et. al (2001) Hum Molec Genet 10:2171-2179
  2. Aradhya S et al (2001) Am J Hum Genet 10:2257-2267
  3. Doffinger R et al (2001) Nat Genet 27:277-285
  4. Fusco F et al (2008). Hum Mut 29:595-604
  5. Smahi A et al (2000) Nature 405:466-472
  6. Zonana J et al (2000) Am J Hum Genet 67:1555-1562
  7. Kashtan C (1999) Medicine (Baltimore) 78:338-360
  8. Scheuerle A & Nelson DL. Incontinentia pigmenti (Bloch-Sulzberger syndrome), In: GeneReviews at GeneTests (http://www.genetests.org), accessed 07-2010
  9. Wright J et al. Hypohydrotic ectodermal dysplasia, In: GeneReviews at GeneTests, accessed 07-2010

Forms and Documents

Test Details

IKBKG (NEMO)
  • Confirmation of a clinical diagnosis
  • Carrier detection in female relatives
  • Differentiation between forms of the hypohidrotic ectodermal dysplasia
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Long Range PCR

Ordering

553
4 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81479x1
No
Yes
  • 757.33 Congenital pigmentary anomalies of skin, Congenital poikiloderma, Urticaria pigmentosa, Xeroderma pigmentosum
  • 520 Disorders of tooth development and eruption
  • 361 Retinal detachments and defects
  • 757.4 Specified anomalies of hair; Congenital: alopecia atrichosis, beaded hair hypertrichosis, monilethrix, Persistent lanugo
* For price inquiries please email zebras@genedx.com

References

  1. Aradhya S et. al (2001) Hum Molec Genet 10:2171-2179
  2. Aradhya S et al (2001) Am J Hum Genet 10:2257-2267
  3. Doffinger R et al (2001) Nat Genet 27:277-285
  4. Fusco F et al (2008). Hum Mut 29:595-604
  5. Smahi A et al (2000) Nature 405:466-472
  6. Zonana J et al (2000) Am J Hum Genet 67:1555-1562
  7. Kashtan C (1999) Medicine (Baltimore) 78:338-360
  8. Scheuerle A & Nelson DL. Incontinentia pigmenti (Bloch-Sulzberger syndrome), In: GeneReviews at GeneTests (http://www.genetests.org), accessed 07-2010
  9. Wright J et al. Hypohydrotic ectodermal dysplasia, In: GeneReviews at GeneTests, accessed 07-2010

Forms and Documents

Test Details

IKBKG (NEMO)
  • Confirmation of a clinical diagnosis
  • Carrier detection in female relatives
  • Differentiation between forms of the hypohidrotic ectodermal dysplasia
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

2862
4 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81479x1
No
Yes
  • 757.31 Congenital ectodermal dysplasia
  • 757.33 Congenital pigmentary anomalies of skin, Congenital poikiloderma, Urticaria pigmentosa, Xeroderma pigmentosum
  • 520 Disorders of tooth development and eruption
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
  • 361 Retinal detachments and defects
  • 757.4 Specified anomalies of hair; Congenital: alopecia atrichosis, beaded hair hypertrichosis, monilethrix, Persistent lanugo
* For price inquiries please email zebras@genedx.com

References

  1. Aradhya S et. al (2001) Hum Molec Genet 10:2171-2179
  2. Aradhya S et al (2001) Am J Hum Genet 10:2257-2267
  3. Doffinger R et al (2001) Nat Genet 27:277-285
  4. Fusco F et al (2008). Hum Mut 29:595-604
  5. Smahi A et al (2000) Nature 405:466-472
  6. Zonana J et al (2000) Am J Hum Genet 67:1555-1562
  7. Kashtan C (1999) Medicine (Baltimore) 78:338-360
  8. Scheuerle A & Nelson DL. Incontinentia pigmenti (Bloch-Sulzberger syndrome), In: GeneReviews at GeneTests (http://www.genetests.org), accessed 07-2010
  9. Wright J et al. Hypohydrotic ectodermal dysplasia, In: GeneReviews at GeneTests, accessed 07-2010