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Piebaldism Differential Diagnoses

  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Jun 21, 2016
 
 

Diagnostic Considerations

Also consider the following:

  • Chemical leukoderma
  • Preus syndrome
  • Tuberous sclerosis [17]
  • Vitiligo (distinguished by the presence of lesions from birth, hyperpigmented macules of depigmented and normal skin, and static course)
  • Yaws (frambesia tropica)
  • Ziprkowski-Margolis syndrome

A screening program to detect Waardenburg syndrome among 1763 deaf individuals throughout Colombia identified 95 affected individuals belonging to 95 families, giving a frequency of 5.38% of Waardenburg syndrome among the institutionalized deaf population.[18] Overall, among the 95 propositi, the most frequent features were broad nasal root (58.9%), a first-degree relative affected (37.9%), heterochromia irides (36.8%), skin hypopigmentation (31.6%), white forelock (28%), intense blue iris (27.4%), synophrys (12.6%), premature graying (10.5%), ptosis of the eyelids (9.5%), and hypoplasia alae nasi (1.1%). Poliosis itself may be the first sign of Waardenburg syndrome.[19, 16]

Piebaldism may rarely be seen together with neurofibromatosis type 1 (NF1).[20] Café-au-lait macules (CALMs) may be seen in piebaldism. A few patients have been classified as having both piebaldism and NF1 based on the presence of multiple CALMs and intertriginous freckling, which may not be an accurate conclusion.[21] In a large family with piebaldism, 2 members meet diagnostic criteria for NF1 based on the presence of more than 5 CALMs and intertriginous freckling, but comprehensive NF1 and SPRED1 testing found no mutations, suggesting that piebaldism may occasionally include CALMs and intertriginous freckling, creating diagnostic confusion, especially in the absence of a family history of piebaldism.[22]

Poliosis may also be seen in individuals with tuberous sclerosis and been described in a variety of other settings, including as the first sign of melanoma, and, rarely, with medications such as topical prostaglandin analogs and topical chloramphenicol.[23]

The co-occurrence of piebaldism and neurofibromatosis type 1 has been described in a few patients, but this is most likely coincidental.[24]

Differential Diagnoses

 
 
Contributor Information and Disclosures
Author

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

Michael D Fox, MD Attending Physician, Department of Emergency Medicine, Marin General Hospital

Michael D Fox, MD is a member of the following medical societies: American Academy of Emergency Medicine, American Geriatrics Society, American Academy of Family Physicians, California Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Albert C Yan, MD Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine

Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology, Society for Pediatric Dermatology, American Academy of Pediatrics

Disclosure: Nothing to disclose.

References
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Distinguished physician with mark of distinction, a white forelock that his father and grandfather also shared.
 
 
 
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