Bardet Biedl syndrome- a rare case
How to cite this article: Shende A, Rambhia K, Kapadia F. Bardet Biedl syndrome- a rare case. Indian J Dermatol Venereol Leprol doi: 10.25259/IJDVL_668_2023
A 20-year-old obese male presented with a darkening of the skin over the neck, axillae, cheeks, and trunk. There was a history of second-degree consanguinity in parents. He was diagnosed with bilateral atypical retinitis pigmentosa and had a history of delayed milestones. On examination, he had acanthosis nigricans, deep-set eyes, hypertelorism, high-arched palate, post-axial polydactyly of all the limbs, gynaecomastia, and micropenis. [Figure 1 and 2]
Based on the above clinical findings, Bardet Biedl syndrome (BBS) was diagnosed. The parents were counseled and advised to have regular follow-ups to look for any renal abnormalities.
BBS is a pleiotropic non-motile ciliopathy. It is related to multiple defective genes called Bbsomes like BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, etc. BBS- protein, a gene product of these genes, plays a role in intra-flagellar transport. Diagnosis is mainly clinical; genetic confirmation is required when the clinical presentation is atypical.
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