Pediatric Annals

CME Article 

Common Genodermatoses: What the Pediatrician Needs to Know

Julianne A. Mann, MD; Dawn H. Siegel, MD

Abstract

The skin can provide valuable clues to the recognition of common genodermatoses. This review focuses on the diagnostic criteria (emphasizing the cutaneous features), screening evaluations, and unusual presentations of three common genetic skin disorders: tuberous sclerosis, neurofibromatosis type 1, and incontinentia pigmenti.

ABOUT THE AUTHORS

Julianne Mann, MD, is Resident Physician, Department of Dermatology, Oregon Health Sciences University, Portland. Dawn H. Siegel, MD, is Assistant Professor, Department of Dermatology, Oregon Health Sciences University, Portland.

Address correspondence to: Dawn H. Siegel, MD, Department of Dermatology, Oregon Health Sciences University, Mail Code CH 16D, 3303 S.W. Bond Ave., Portland, OR 97239; fax 503-494-6844; e-mail siegeld@ohsu.edu.

Dr. Mann and Dr. Siegel have disclosed no relevant financial relationships.

EDUCATIONAL OBJECTIVES

  1. Identify the diagnostic criteria for tuberous sclerosis and discuss available treatment options for facial angiofibromas.
  2. Describe the diagnostic criteria for neurofibromatosis and recognize the segmental presentation ofneurofibromatosis.
  3. Review the cutaneous manifestations of incontinentia pigmenti and discuss the presentation found in male patients.

Abstract

The skin can provide valuable clues to the recognition of common genodermatoses. This review focuses on the diagnostic criteria (emphasizing the cutaneous features), screening evaluations, and unusual presentations of three common genetic skin disorders: tuberous sclerosis, neurofibromatosis type 1, and incontinentia pigmenti.

ABOUT THE AUTHORS

Julianne Mann, MD, is Resident Physician, Department of Dermatology, Oregon Health Sciences University, Portland. Dawn H. Siegel, MD, is Assistant Professor, Department of Dermatology, Oregon Health Sciences University, Portland.

Address correspondence to: Dawn H. Siegel, MD, Department of Dermatology, Oregon Health Sciences University, Mail Code CH 16D, 3303 S.W. Bond Ave., Portland, OR 97239; fax 503-494-6844; e-mail siegeld@ohsu.edu.

Dr. Mann and Dr. Siegel have disclosed no relevant financial relationships.

EDUCATIONAL OBJECTIVES

  1. Identify the diagnostic criteria for tuberous sclerosis and discuss available treatment options for facial angiofibromas.
  2. Describe the diagnostic criteria for neurofibromatosis and recognize the segmental presentation ofneurofibromatosis.
  3. Review the cutaneous manifestations of incontinentia pigmenti and discuss the presentation found in male patients.

The skin can provide valuable clues to the recognition of common genodermatoses. This review focuses on the diagnostic criteria (emphasizing the cutaneous features), screening evaluations, and unusual presentations of three common genetic skin disorders: tuberous sclerosis, neurofibromatosis type 1, and incontinentia pigmenti.

ABOUT THE AUTHORS

Julianne Mann, MD, is Resident Physician, Department of Dermatology, Oregon Health Sciences University, Portland. Dawn H. Siegel, MD, is Assistant Professor, Department of Dermatology, Oregon Health Sciences University, Portland.

Address correspondence to: Dawn H. Siegel, MD, Department of Dermatology, Oregon Health Sciences University, Mail Code CH 16D, 3303 S.W. Bond Ave., Portland, OR 97239; fax 503-494-6844; e-mail siegeld@ohsu.edu.

Dr. Mann and Dr. Siegel have disclosed no relevant financial relationships.

EDUCATIONAL OBJECTIVES

  1. Identify the diagnostic criteria for tuberous sclerosis and discuss available treatment options for facial angiofibromas.
  2. Describe the diagnostic criteria for neurofibromatosis and recognize the segmental presentation ofneurofibromatosis.
  3. Review the cutaneous manifestations of incontinentia pigmenti and discuss the presentation found in male patients.

10.3928/00904481-20090201-08

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