ESPE Abstracts (2018) 89 P-P3-231

aRare Diseases and Auxological Unit, Department of Pediatrics, Sant’Orsola-Malpighi Hospital, University of Bologna, Italy, Bologna, Italy; bCNR Institute of Molecular Genetics, Unit of Bologna, Bologna, Italy

The LMNA gene encodes lamin A/C, intermediate filament proteins associated with the inner nuclear membrane. Mutations in LMNA gene cause a wide range of human diseases sometimes called ‘laminopathies’ that affect different organ systems depending upon the mutation. Most laminopathies involve tissue of mesenchymal origins, resulting in such features as cardiac disorders and/or muscular dystrophy, lipodystrophy or progeroid syndromes. The group of progeroid syndromes includes: Hutchinson-Gilford progeria syndrome (HGPS), Mandibuloacral Dysplasia (MAD), atypical Werner syndrome (a-WS) and Atypical Progeroid Syndrome (APS). HGPS is a rare, sporadic, dominant genetic disorder characterized by phenotypic features of accelerated aging and it is caused by de novo mutations in the LMNA gene. APS is a new autosomal dominant disorder with heterogeneous phenotype, due to different LMNA mutations. Patients show different clinical signs referred to HGPS, MAD or atypical Werner’s syndrome. The phenotype of APS has not been well characterized and patients have been reported to have variable progeroid features such as: short stature, beaked nose, premature graying, partial alopecia, high-pitched voice and skin atrophy over the hands and feet, besides having diabetes, generalized lipodystrophy, skin pigmentation and mandibular hypoplasia. The evolution of HGPS and MAD is generally well known, but the evolution of APS is not so clear and it probably depends on the mutation. We report a female patient with APS followed-up for 10 years, who showed normal pubertal timing with reduced pubertal growth spurt, normal FH compared with Target height, lipodystrophy with acral loss of sc fatty tissue and excess fat accumulation in the face, neck, chest and abdomen. During the follow-up, she developed sclerodermatous skin, signs of insulin resistance, glucose intolerance and mild hepatic steatosis. No signs of acroosteolysis or osteoporosis were observed. An adequate food survey with a personalized diet and a pharmacological approach with metformin improved the control the metabolic disease.

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