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 Table of Contents  
Year : 2018  |  Volume : 19  |  Issue : 2  |  Page : 178-180

Waardenburg syndrome Type I

1 Dermato-Venereology (Skin/VD) Center, Sehgal Nursing Home, New Delhi, India
2 Department of Ophthalmology, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All Institute of Medical Sciences, New Delhi, India

Date of Web Publication26-Mar-2018

Correspondence Address:
Virendra N Sehgal
Dermato-Venereology (Skin/VD) Center, Sehgal Nursing Home, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_37_17

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How to cite this article:
Sehgal VN, Venkatesh P. Waardenburg syndrome Type I. Indian J Paediatr Dermatol 2018;19:178-80

How to cite this URL:
Sehgal VN, Venkatesh P. Waardenburg syndrome Type I. Indian J Paediatr Dermatol [serial online] 2018 [cited 2020 Dec 4];19:178-80. Available from: https://www.ijpd.in/text.asp?2018/19/2/178/211814


A 3½-year-old female child was brought to the outpatient department with an asymptomatic, glaring/ivory white rupioid, resembling an Indian currency rupee spot, having white hair on top, incidentally noticed by the inquisitive parents almost at the time of birth. It was perceptibly small to begin with, but gradually increased in size corresponding to that of age, causing anxious apprehension to the parents, which impelled them to seek expert's advice. The child was a product of full-term, uneventful normal delivery.

On forehead examination, skin surface was conspicuous by the presence of an ivory white macule of reddish hue on diascopy of circular configuration of the size of an Indian rupee, measuring 25 mm in diameter. The margin of the macule had normal pigmentation corresponding to a numerical classification schema (Type III) for human skin color. Besides, white hair on the top displayed a bunch or collection of hair, the white forelock [Figure 1] and [Figure 2]. Pinheads-to-pea size macules were also located on the face and the trunk.
Figure 1: Waardenburg syndrome Type I depicting a macule of reddish hue on diascopy, a white forelock

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Figure 2: Waardenburg syndrome Type I depicting a macule of reddish hue on diascopy, a white forelock

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  Eye Examination Top

The inner canthi of the eyes were displaced laterally, giving an appearance of widened nasal bridge. Both the eyes had a peculiar blue luster apparently of similar color. Slit-lamp examination was performed through a dilated pupil, the media of anterior segment were clearly visible showing normal pattern [Figure 3] and [Figure 4]. The color of the iris was uniform, the heterochromia was however absent. The posterior segment too did not reveal any abnormality.
Figure 3: Waardenburg syndrome Type I: Anterior segment showing normal iris pattern

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Figure 4: Waardenburg Syndrome Type I: Anterior segment showing normal iris pattern

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No ipsilateral conductive hearing loss or a contralateral sensorineural hearing loss (SNHL) could be elicited by placing 512 Hz tuning fork on the forehead. A diagnosis suspecting Waardenburg syndrome (WS) Type I was made.

  Discussion Top

WS, a rare genetic disorder,[1] first described in the year 1951,[2] is characterized by varying degrees of SNHL, due to minor defects in structures of the inner ear, arising from the neural crest,[3] SNHL, and pigmentary disturbances of the iris, hair, and skin. Dystopia canthorum, a lateral displacement of the inner canthi of the eyes, gives an appearance of a widened nasal bridge.[4],[5],[6] WS is a rare fascinating disorder, the reports of which are too few and far between. The current report, therefore, acquires a dimension of distinction. To a great extent, it embarrasses the wide spectrum of clinical features conforming to Type I, the recitation of which is imperative.

  • Very pale or brilliantly blue eyes

    • Eyes of two different colors, the complete heterochromia
    • Eyes with one iris having two different colors, the sectoral heterochromia.

  • A forelock of white hair, the poliosis/premature graying of the hair Appearance of wide-set eyes due to a prominent, broad nasal root, the dystopia canthorum/telecanthus.

In addition, it is worthwhile to take cognizance of the Fitzpatrick scale/skin typing test/photo-typing scale, a numerical classification schema (Type I–VI) for human skin color.[7],[8] In a few cases, however, the severity of the condition might have to account for Type II, III, IV advanced variants of Waardenburg syndrome, which may complete the sequence.[1]

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

Waardenburg Syndrome. Genetics Home Reference. Available from: https://en.wikipedia.org/wiki/Waardenburg_syndrome. [Last reviewed on 2012 Oct].  Back to cited text no. 1
Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 1951;3:195-253.  Back to cited text no. 2
Mallory SB, Wiener E, Nordlund JJ. Waardenburg's syndrome with Hirschsprung's disease: A neural crest defect. Pediatr Dermatol 1986;3:119-24.  Back to cited text no. 3
Milunsky JM. Waardenburg syndrome type I. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, et al., editors. Gene Reviews ®. Seattle, WA: University of Washington, Seattle, 1993-2017; 2001. Available from: https://www.ncbi.nlm.nih.gov/pubmed/20301703. [Last updated on 2017 Jan 12].  Back to cited text no. 4
Ghosh SK, Bandyopadhyay D, Ghosh A, Biswas SK, Mandal RK. Waardenburg syndrome: A report of three cases. Indian J Dermatol Venereol Leprol 2010;76:550-2.  Back to cited text no. 5
[PUBMED]  [Full text]  
Dhar S, Kanwar AJ. Waardenburg's syndrome associated with congenital melanocytic naevus. Pediatr Dermatol 1993;10:391-2.  Back to cited text no. 6
Fitzpatrick TB. Sun and skin. J Méd Esthét 1975;2:33-4.  Back to cited text no. 7
Fitzpatrick TB. The validity and practicality of sun-reactive skin types I through VI. Arch Dermatol 1988;124:869-71.  Back to cited text no. 8


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


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