eMedicine Specialties > Dermatology > Pediatric Diseases

Ectodermal Dysplasia: Differential Diagnoses & Workup

Author: Kara N Shah, MD, PhD, Assistant Professor, Department of Pediatrics and Dermatology, University of Pennsylvania School of Medicine; Attending Physician, Section of Dermatology, Division of General Pediatrics, Children's Hospital of Philadelphia
Contributor Information and Disclosures

Updated: Feb 26, 2009

Differential Diagnoses

Alopecia Areata
Aplasia Cutis Congenita
Focal Dermal Hypoplasia Syndrome
Incontinentia Pigmenti
Naegeli-Franceschetti-Jadassohn Syndrome
Pachyonychia Congenita

Other Problems to Be Considered

Keratitis-ichthyosis-deafness syndrome
Generalized atrichia with papules

Workup

Laboratory Studies

  • In general, laboratory studies are not useful in the diagnosis or management of the ectodermal dysplasias.
  • Patients with ectodermal dysplasia associated with immunodeficiency may have hypogammaglobulinemia with impaired lymphocyte proliferation and cell-mediated immunity. An appropriate evaluation, including determination of quantitative immunoglobulin levels and T-cell subset populations, should be performed.

Imaging Studies

  • Perform orthopantography at an early age if hypodontia or dental abnormalities are present.
  • X-ray films of hands, feet, or both may demonstrate specific skeletal deformities.
  • Renal ultrasonography, voiding cystourethrography, and intravenous pyelography may be helpful in evaluating children with ectodermal dysplasia in association with cleft lip and/or palate for underlying genitourinary tract anomalies.

Other Tests

  • Sweat pore counts, pilocarpine iontophoresis, and skin biopsy may document hypohidrosis and a reduction in the number of eccrine glands.
    • Sweat pore counts may be performed using yellow starch–iodine powder applied to palmar or dorsal skin. In unaffected persons, sweating turns the yellow starch–iodine powder to deep purple, allowing visualization of sweat pores. Sweat pores are poorly visualized in affected children. Female carriers of X-linked EDA may demonstrate a mosaic pattern of areas of normal numbers of sweat pores alternating with areas of absent pores. Streaky areas of hypohidrosis that follow Blaschko lines are observed upon starch-iodine staining.
    • For skin biopsy, the hypothenar eminence is the most reliable biopsy site in order to demonstrate an absence or hypoplasia of sweat glands.
    • Fetal skin biopsy may help identify the presence of decreased numbers of eccrine sweat glands for prenatal diagnosis of hypohidrotic ectodermal dysplasia.
    • Prenatal diagnosis using genetic mutation analysis may be performed for those ectodermal dysplasias in which the genetic mutation is known.
    • Indirect prenatal diagnosis may be performed by linkage analysis applied to chorionic villus samples at the 10th week of gestation for some ectodermal dysplasias.
    • Genetic testing for hidrotic ectodermal dysplasia, X-linked recessive and autosomal dominant hypohidrotic ectodermal dysplasia, EEC syndrome, and AEC syndrome is available through GeneDx.

Histologic Findings

Skin histopathology documents a reduction in the number of sweat glands, hair follicles, and sebaceous glands associated with the different ectodermal dysplasias. In EDA, the epidermis is thin and flattened. Eccrine sweat glands are few or poorly developed or are very rudimentary. Beyond the skin, mucous glands in the upper respiratory tract and bronchi are often reduced in number. Salivary glands may show ectasia of ducts and inflammatory changes.

More on Ectodermal Dysplasia

Overview: Ectodermal Dysplasia
Differential Diagnoses & Workup: Ectodermal Dysplasia
Treatment & Medication: Ectodermal Dysplasia
Follow-up: Ectodermal Dysplasia
Multimedia: Ectodermal Dysplasia
References
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Further Reading

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Keywords

ectodermal dysplasia, hypohidrotic ectodermal dysplasia, hidrotic ectodermal dysplasia, anhidrotic ectodermal dysplasia, EEC syndrome, AEC syndrome, Rapp-Hodgkin syndrome, Hay-Wells syndrome, Christ-Siemens-Touraine syndrome, Clouston syndrome, Clouston's syndrome, acro-dermato-ungual-lacrimal-tooth syndrome, ADULT syndrome, nail abnormalities, teeth abnormalities, hair anomalies, trichodysplasia, dental abnormalities, onychodysplasia, eccrine gland dysfunction, dyshidrosis

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Contributor Information and Disclosures

Author

Kara N Shah, MD, PhD, Assistant Professor, Department of Pediatrics and Dermatology, University of Pennsylvania School of Medicine; Attending Physician, Section of Dermatology, Division of General Pediatrics, Children's Hospital of Philadelphia
Kara N Shah, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, and Society for Pediatric Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Jean Paul Ortonne, MD, Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France
Jean Paul Ortonne, MD is a member of the following medical societies: American Academy of Dermatology and American Dermatological Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: elsevier Royalty Other; american college of physicians Honoraria Other

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