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

Piebaldism with complete poliosis: A rare presentation

Department of Dermatology, Venereology and Leprosy, Yenepoya Medical College, Yenepoya University, Mangalore, Karnataka, India

Date of Web Publication26-Mar-2018

Correspondence Address:
Thansiha Nargis
Department of Dermatology, Venereology and Leprosy, Yenepoya Medical College, Yenepoya University, Mangalore, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_1_17

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How to cite this article:
Nargis T, Pinto M, Shenoy MM. Piebaldism with complete poliosis: A rare presentation. Indian J Paediatr Dermatol 2018;19:183-5

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 Feb 28];19:183-5. Available from: https://www.ijpd.in/text.asp?2018/19/2/183/206045


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: Family pedigree showing people affected with piebaldism in the family

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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: Clinical image showing rhomboid depigmented macules over the forehead, trunk, and extremities interspersed with areas of normal skin

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Figure 3: Clinical image showing depigmented macule over the midline of forehead with depigmented eyebrow

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Figure 4: Complete poliosis of scalp hair interspersed with golden brown hair

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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.

  References Top

Agarwal S, Ojha A. Piebaldism: A brief report and review of the literature. Indian Dermatol Online J 2012;3:144-7.  Back to cited text no. 1
[PUBMED]  [Full text]  
Anstey AV. Disorders of skin colour. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook's Textbook of Dermatology. 8th ed. West Sussex: Blackwell Publishing Ltd.; 2010. p. 58.1-58.59.  Back to cited text no. 2
Spritz RA. Molecular basis of human piebaldism. J Invest Dermatol 1994;103 5 Suppl: 137S-40S.  Back to cited text no. 3
Ortonne JP, Bahaderan P, Fitzpatric TB, Mosher DB, Hori Y. Hypomelanosis and hypermelanosis. In: Fitzpatric TB, Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, et al., editors. Dermatology in General Medicine. 6th ed. New York: McGraw-Hill; 2003. p. 836-81.  Back to cited text no. 4
Fukai K, Hamada T, Ishii M, Kitajima J, Terao Y. Acquired pigmented macules in human piebald lesions. Ultrastructure of melanocytes in hypomelanotic skin. Acta Derm Venereol 1989;69:524-7.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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