Piebaldism: A Cutaneous Pigmentation Defect

Introduction: Piebaldism is a rare inherited autosomal dominant disease caused by a mutation in the C-KIT gene located on chromosome 4q12-13. In the presence of this mutation, a defect occurs in the migration and subsequent proliferation of melanoblasts in some body areas during the embryonic development, causing acromy due to the absence of melanin production.

The most suggestive clinical finding is a triangular acromic area in frontal region associated with hair depigmentation (poliosis), present in 80-90% of the cases. Other areas such as limbs, chest and abdominal region may also be affected. Skin changes are present from birth and remain stable over time.

The differential diagnosis is made with other cutaneous pigmentation disorders, such as vitiligo, total albinism, Tietz Syndrome and Waardenburg Syndrome.

Case Presentation: A female newborn presented at birth with an acromic macula at the frontal region with associated local hair depigmentation and macular hypochromic lesions in previvial regions, forearms, and abdomen. Physical examination was otherwise unremarkable. She was born of an uneventful first gestation of 39 weeks, had good adaptation to extrauterine life and appropriate to gestational age somatometry at birth.

Familial history was positive for piebaldism (mother and maternal aunt). Ophthalmological and auditory evaluation were normal.

Currently she is 5 months-old and has adequate psychomotor and stato-ponderal development.

In the case described, the presence of circumscribed poliosis associated with areas of depigmentation in the limbs and abdomen since birth, the stable course and positive family history, helped in the diagnosis and differentiation from vitiligo. The remaining entities are excluded, taking into account the objective examination and auditory and ophthalmologic evaluations performed.

Conclusion: The conjugation of the clinical history, genealogical tree and objective examination is crucial to the diagnosis of this pathology, obviating the need for complementary tests.