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CASE REPORT
Year : 2021  |  Volume : 22  |  Issue : 4  |  Page : 349-351

Case of mandibuloacral dysplasia with type B lipodystrophy


Department of Dermatology, LTMMC and LTMGH, Mumbai, Maharashtra, India

Correspondence Address:
Sanober Burzin Daruwalla
Department of Dermatology, LTMMC and GH, Mumbai, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_77_20

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Introduction: Mandibuloacral dysplasia with type B lipodystrophy (MADB) caused by compound heterozygous mutation in the ZMPSTE24 gene is characterized by generalized lipodystrophy and short stature. Cutaneous manifestations of these disorders vary broadly. Case report: We present a genetically confirmed case of MAD Type B in a two year-old boy born out of second degree consanguinity. Discussion: The report aims to increase awareness of the rare condition and emphasize the utility of genetic analysis in differentiating it from other differentials with a phenotypic overlap.


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