Diagnostic Considerations

The following should be considered:

Autism
Cardiac arrhythmia
Epilepsy
Infantile spasms
Other causes of mental retardation

Hypomelanotic macules of tuberous sclerosis complex (TSC) must be distinguished from vitiligo, which may reflect a systemic process that includes other autoimmune diseases and ocular and neurological abnormalities.^[39]In particular, Alezzandrini syndrome and Vogt-Koyanagi-Harada syndrome exemplify this relationship. In addition, the macules of tuberous sclerosis occasionally require distinction from progressive systemic sclerosis (scleroderma), and, in endemic regions, leprosy.

The multiple oral papules in tuberous sclerosis complex may be similar to those in Cowden syndrome, Birt-Hogg-Dube syndrome, and multiple endocrine neoplasia type 1.^[7]

Neuroendocrine tumors of the pancreas have been described in only 9 TSC cases.^[40]However, there may be a common molecular pathway between these 2 entities.

Differential Diagnoses

Workup

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Media Gallery

Facial angiofibroma, previously termed adenoma sebaceum, in a patient with tuberous sclerosis complex (TSC).
Forehead plaque in a patient with tuberous sclerosis complex (TSC). The presence of either a forehead plaque or a facial angiofibroma constitutes one of the major diagnostic criteria for TSC.
Ash-leaf spots are hypomelanotic lesions that are observed more easily with the use of a Wood lamp.
A shagreen patch is a connective tissue hamartoma with a leathery texture and is found most commonly in the lower back region.
Confetti skin lesions are hypomelanotic lesions that cluster and appear reticulated.
MRI in a patient with tuberous sclerosis complex (TSC) demonstrates the presence of a tuber and subependymal nodules.
Periungual fibroma on the thumb of a patient with tuberous sclerosis complex (TSC).

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Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Coauthor(s)

Sergiusz Jozwiak, MD, PhD Professor and Head of Pediatric Neurology, Medical University of Warsaw, Poland

Sergiusz Jozwiak, MD, PhD is a member of the following medical societies: Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Robert Pedersen, MD Chief, Child Neurology, Tripler Army Medical Center; Clinical Professor, Pediatrics and Psychiatry, University of Hawaii, John A Burns School of Medicine

Robert Pedersen, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, Child Neurology Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Erawati V Bawle, MD, FAAP, FACMG Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Christine Johnson, MD, to the development and writing of this article.

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