Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease.
BACKGROUND
A number of metabolic conditions have been associated with Obstructive Sleep Apnea Syndrome (OSAS). Familial partial lipodystrophy type 2 (FPLD2), one of the few rare genetic disorders affecting total body fat redistribution, is one of those conditions.


METHODS
In this case report the authors detail OSAS associated with FPLD2 with atypical dermatological and systemic manifestations.
Departments of Neurology, University of Vermont College of Medicine and Fletcher Allen Health Care, Burlington, VT, USA. Kumar.Patel@vtmednet.org
Kumar
K
Patel
Debra
D
Roseman
Heather
H
Burbank
Hrayr
H
Attarian
D001143:Arousal; D050218:Body Fat Distribution; D016893:Carotid Stenosis / Q000175:diagnosis / Q000235:genetics*; D045422:Continuous Positive Airway Pressure; D003324:Coronary Artery Disease / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D006970:Disorders of Excessive Somnolence / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D052496:Lipodystrophy, Familial Partial / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D010108:Oxyhemoglobins / Q000378:metabolism; D010641:Phenotype; D017286:Polysomnography; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000235:genetics*; D020181:Sleep Apnea, Obstructive / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
C494847:LMNA protein, human; D034904:Lamin Type A; D010108:Oxyhemoglobins