DOI: http://dx.doi.org/10.18203/issn.2455-4529.IntJResDermatol20212564

Juvenile type II Waardenburg syndrome: a rare case report in Kerala

Abhijith V., John Thomas, Jisha James, Niveditha Dileep

Abstract


Rare diseases are many in number but their treatments are less, as most of these rare diseases are genetical and there is no complete cure for a genetic disorder. Waardenburg syndrome (WS) is one among that type of rare genetic disorder thus the treatment is limited but the number of cases are increasing. This was the case report of a newborn baby showing major symptoms of WS. The patient got it through paternally. To make a final conclusion, various diagnostic tests were conducted including the family history as the patient's father had premature grey hairs and white patches on the body. Even though there is no complete cure for this disease condition, the sign and symptoms can be controlled before making it into a major disability. This case report typically dealt with the major types, clinical presentation, diagnosis and supportive therapy for a patient diagnosed with WS. Also showed the crucial role of consanguineous parents on this syndrome because the children affecting this rare syndrome are increasing. This report showed that further studies are required to check how the colour of the hair is changing in WS patients and what is happening to the gene involved in the production of melanin. Also, studies are required the find why WS typically affecting the major sensory organs such as eyes, ears, nose and skin.


Keywords


White forelock, Brilliant blue iris, Dystopia canthorum

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References


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