Indian Journal of Paediatric Dermatology

: 2018  |  Volume : 19  |  Issue : 2  |  Page : 183--185

Piebaldism with complete poliosis: A rare presentation

Thansiha Nargis, Malcolm Pinto, Manjunath Mala Shenoy 
 Department of Dermatology, Venereology and Leprosy, Yenepoya Medical College, Yenepoya University, Mangalore, Karnataka, India

Correspondence Address:
Thansiha Nargis
Department of Dermatology, Venereology and Leprosy, Yenepoya Medical College, Yenepoya University, Mangalore, Karnataka

How to cite this article:
Nargis T, Pinto M, Shenoy MM. Piebaldism with complete poliosis: A rare presentation.Indian J Paediatr Dermatol 2018;19:183-185

How to cite this URL:
Nargis T, Pinto M, Shenoy MM. Piebaldism with complete poliosis: A rare presentation. Indian J Paediatr Dermatol [serial online] 2018 [cited 2021 Jan 15 ];19:183-185
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Piebaldism is a rare autosomal dominant disorder with variable phenotype, presenting at birth. There is congenital absence of melanocytes in the affected areas of the skin and hair due to mutations of the c-kit gene which affects the differentiation and migration of melanoblasts from the neural crest during the embryonic life.[1],[2] Its incidence is estimated to be <1 in 20,000 with no sex or racial predisposition.[3],[4]

A 6-year-old male child presented with large asymptomatic white patches over the body and scalp and complete white hair since birth. His mother gives history suggestive of spontaneous pigmentation of the extremity lesions without treatment. The child was born of a nonconsanguineous marriage with similar complaints noticed in the child's father and father's brother since birth [Figure 1]. The child was immunized appropriately for age with normal developmental milestones and good scholastic performance.{Figure 1}

Clinical examination revealed large depigmented macules with areas of interspersed skin colored and hyperpigmented macules distributed over the chest [Figure 2], midline of the forehead [Figure 3], and symmetrically distributed over medial aspect of the upper arm and anterior aspect of the lower leg. The depigmented macules were rhomboid- and diamond-shaped over the chest. The entire back and mucosa were spared. Instead of the usual white forelock, the entire scalp hair was white in color [Figure 4] with few areas of golden-brown hair (history of using mehendi). The hairs over the eyebrow in the medial aspect were depigmented. White forelock was noticed with unaffected scalp hair in the child's father and paternal uncle. The anthropometric parameters were within normal limits. Ophthalmologic evaluation revealed depigmented mottled areas in the iris of the left eye. Other system examination was within normal limits.{Figure 2}{Figure 3}{Figure 4}

Piebaldism is characterized by the presence of a white forelock and circumscribed congenital leukoderma caused by the mutation in the KIT proto-oncogene. The typical lesions include a triangular/diamond-shaped patch of depigmentation with white hair on the frontal area of the scalp, with the apex of the patch pointing toward the nasal bridge as well as hypopigmented or depigmented macules on the face, neck, ventral trunk, flanks, and extremities. These patches are usually stable throughout life although in some of the patients, repigmentation may occur spontaneously, either partially or completely, especially after injury.[5] Eyebrows and eyelashes may also be affected. Typically, islands of normally pigmented or hyperpigmentation are present within and also at the border of the depigmented areas.[4] Histologically, melanocytes are either absent or considerably reduced in depigmented patches whereas they are normal in number in the hyperpigmented areas.

Piebaldism has to be differentiated from other pigmentary disorders such as albinism and vitiligo. As piebaldism can be associated with multiple syndromes, the patient needs to be evaluated for the same.

Piebaldism with complete poliosis is a rare presentation of a less commonly prevalent pigmentary disorder. It is known to affect both skin and hair, but in this case, there were associated iris findings suggesting a need for ophthalmic evaluation in such cases.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.


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