Piebaldism Differential Diagnoses

Updated: Apr 06, 2021
  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
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DDx

Diagnostic Considerations

Also consider the following:

  • Chemical leukoderma
  • Preus syndrome
  • Tuberous sclerosis [22]
  • 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. [23] 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. [21, 24]

Piebaldism may rarely be seen together with neurofibromatosis type 1 (NF1). [25] 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. [26] 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. [27]

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. [28]

The co-occurrence of piebaldism and neurofibromatosis type 1 has been described in a few patients, but this is most likely coincidental. [29]

Differential Diagnoses