SMU Medical Journal

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MADA is a rare syndrome characterized by premature aged appearance, and variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. The disease resulting from mutation of LMNA gene. Here we report a 16 year-old girl with joint deformities especially in the fingers&loss of fatty tissue under the skin (progeroid feature). Based on these finding MADA was suspected and LMNA gene sequencing was performed revealing a homozygous mutation in R527H.

Keywords

LMNA , Mandibulo Acral Dysplasia, Lipodystrophy, R527H.
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