Piebaldism

An 18-month-old female child was brought with asymptomatic whitish patches over the forehead, chest, and upper and lower extremities since birth. There was history of spontaneous appearing normal areas of skin within the whitish patches; there was no family history of similar complaints. Examination revealed presence of multiple depigmented macules symmetrically over the knees, elbows, chest, and white forelock over the forehead [Figure 1]. There were multiple normal skin islands within these depigmented macules with leucotrichia of scalp, eyebrow, and eyelash poliosis. Eye and ear evaluation was within normal limits.

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Figure 1:

Multiple symmetrical depigmented macules with areas of normal skin islands within over the knees, elbows, and chest with white forelock.

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Piebaldism is an autosomal dominant condition due to defective melanoblast migration and differentiation with mutation in C-kit gene. Morphologically characterized by the presence of symmetrical areas of depigmented macules with areas of normal or hyperpigmented skin that arises spontaneously within the lesions. White forelock characterized by diamond shaped depigmented macule of forehead with corresponding leucotrichia can be seen. Syndromic conditions of piebaldism need to be ruled out such as Waardenburg’s syndrome characterized by heterochromia irides, dystopia canthorum, and sensorineural hearing loss in addition to these features.^[1]