From the Research
Skin Manifestations of Piebaldism
- Piebaldism is characterized by the congenital absence of melanocytes in the affected areas, resulting in achromic lesions and poliosis 1, 2.
- The condition typically presents with symmetrical achromic macules and a white lock of hair on the forehead, which is seen in approximately 80% of cases 1.
- Hyperpigmented macules may also be present within the hypopigmented areas 1, 3.
Systemic Manifestations of Piebaldism
- While piebaldism is primarily a skin condition, associations have been described with neurofibromatosis type I 1.
- There is no evidence to suggest that piebaldism is directly associated with systemic manifestations beyond skin and hair pigmentation.
- However, the condition may be part of a larger syndrome, such as Waardenburg syndrome, which can have additional systemic features 1, 3.
Differential Diagnosis
- The differential diagnosis for piebaldism includes vitiligo, albinism, and Waardenburg syndrome 1, 2.
- Vitiligo can be distinguished from piebaldism by the presence of unstable hypopigmented lesions that are acquired later in life 2.
- Albinism presents with widespread skin involvement and lacks the characteristic hyperpigmented macules within hypopigmented areas 2.