MUTATION IN LMDA CAUSING MANDIBULOACRAL DYSPLASIA

Abstract

Mandibuloacral dysplasia (MAD; OMIM #248370) is a rare autosomal recessive disorder characterized by bone abnormalities, skin pigmentation, lipodystrophy signs, and mildly accelerated aging. Herein, we describe a 6-year-old girl with dysmorphic face, including prominent eyes, marked micrognathia and retrognathia, teeth crowding, thin lips, and small beaked nose, in association with patchy alopecia, height and weight below the third centile, atrophic skin, dermal calcinosis, hyperpigmented and hypochromic patches, generalized joint stiffness, diffuse osteoporosis, and generalized lipodystrophy. Genetic analysis detected the mutation c.1579C>T (p.R527C) in the LMNA exon 10, compatible with the diagnosis of MAD type A (MADA). This study highlights the importance of the combination of clinical and molecular studies for the diagnosis of MADA, allowing for proper treatment. Mandibuloacral dysplasia (MAD; OMIM #248370) is a rare autosomal recessive disorder characterized by bone abnormalities, skin pigmentation, lipodystrophy signs, and mildly accelerated aging. Herein, we describe a 6-year-old girl with dysmorphic face, including prominent eyes, marked micrognathia and retrognathia, teeth crowding, thin lips, and small beaked nose, in association with patchy alopecia, height and weight below the third centile, atrophic skin, dermal calcinosis, hyperpigmented and hypochromic patches, generalized joint stiffness, diffuse osteoporosis, and generalized lipodystrophy. Genetic analysis detected the mutation c.1579C>T (p.R527C) in the LMNA exon 10, compatible with the diagnosis of MAD type A (MADA). This study highlights the importance of the combination of clinical and molecular studies for the diagnosis of MADA, allowing for proper treatment.