|Year : 2003 | Volume
| Issue : 7 | Page : 24-25
Kharya AV, Agarwal SN
Department of Skin, STD. & Leprosy, Dr. Panjabrao Deshmukh Memorial Medical College, Amravati - 444 603 Maharashtra
“Prajakta”, Keshav Colony, Camp, Amravati - 444 603
A 3-year-old girl presented with sensoryneural deafness and depigmented macular lesions in characteristic pattern since birth. She also had heterochromia of iris and lateral displacement of inner canthi which pointed towards this rare entity.
|How to cite this article:|
Kharya A V, Agarwal S N. Waardenburg’s syndrome. Indian J Dermatol Venereol Leprol 2003;69, Suppl S1:24-5
| Introduction|| |
Waardenburg's syndrome is an autosomal dominant, rare disorder of neural crest abnormality with varied manifestations and expressivity. The dermatological presentation is piebaldism like lesions (17%) which could be associated with congenital sensorineural deafness (20%), displacement of inner canthi (80%), heterochromia irides (25%) and broadening of nasal bridge (80%). A patient is being reported with these findings.
| Case Report|| |
A 3-year-old girl presented with piebaldism-like hypopigmented macular lesions and deafness noticed since birth. The hypopigmented lesions were present over forehead, middle parts of forearms and legs. There were many dot like areas of normal colour and hyperpigmentation in middle of these lesions. Light white coloured hairs were present near and on the lesion on forehead, frontal scalp and on a part of right eyebrow. The audiometry revealed profound bilateral sensory neural deafness.
The opthalmological examination revealed lateral displacement of inner canthi and heterochromia of iris. The right sided iris was light blue in colour. There was no other eye abnormality. There was tendency towards confluence of medial ends of eyebrows and overall hairs were more dense on central part of forehead. The nasal bridge was broad. The CNS, musculoskeletal and other systemic examinations were normal.
The patient has other two normal siblings and normal parents with consanguineous marriage.
| Discussion|| |
Piebaldism-like hypopigmentation along with congenital deafness is a strong pointer towards Waardenburg's syndrome. The other close rare possibilities are Woolf's syndrome, Fisch's syndrome and Rozychi's syndrome. Woolf's syndrome has also piebaldism and deafness. Rozychi's syndrome in addition to deafness & typical leucoderma has muscle wasting and achalasia. Fisch's syndrome has deafness, early greying of hairs and partial heterochromia, but the eye changes like dystopia canthi and broad nasal bridge are the differentiating features and are in favour of Waardenburg's syndrome.
There are three types of Waardenburg's syndrome indicating genetic heterocity. Type I is the classic form, type II lacks dystopia canthorum and type III is associated with limb abnormalities and dystopia canthorum. A variant has been associated with Hirschprung's disease and is regarded as type IV. The most common is type I. Our patient belonged to type I and has nearly all major features of Waardenburg's syndrome.
Coming to treatment, partial treatment is possible for the pigment dilution. Disppearance of white forelock may occur. Early diagnosis & management of the hearing defect is important for normal social & mental development and for genetic counseling. The case is being reported for its rarity. Waardenburg's syndrome has been reported in past in Indian literature.
| References|| |
|1.||Bleehen SS. Disorders of skin colour. In: Textbook of Dermatology, edited by Champion RH, Burton JL, Burns DA, Breathnach SM, 6th end, Oxford; Blackwell Scientific publications 1998; 1799-1800. |
|2.||Mosher DB, Fitzpatrick TB, Ortonne JP etal. Disorders of pigmentation, In: Dermatology is General Medicine, edited by Fitzpatrick TB, Eisen AZ, Wolf K, Freedberg IM, Austen KF, 3rd edn, New York: Mc Graw-Hill, 1987; 823. |
|3.||Yesudian PD, Jayaraman M, Janaki VR, etal. Waardenburg's syndrome. Indian J Dermatol Venerel Leprol 1995; 61:222-223. |