LIPOHYPOTROPHIC SYNDROMES
Genetics
Generalised
Berardinelli-Seip syndrome
type 1 (AGPAT2)
type 2 (BSCL2)
type 3 (CAV1)
type 4 (PTRF)
Unknown genes
Partial
Familial Partial Lipodystrophy
type 1 or Köbberling disease: Unknown genes
type 2 or Dunnigan disease: (LMNA)
type 3 (PPARG)
type 4 (PLIN1)
type 5 (CIDEC)
by mutation in AKT2
muscular dystrophy associated
Early ageing syndromes
Hutchinson-Gilford Progeria: (LMNA)
Mandibulo-acral dysplasia
Atypical Werner syndrome and Atypical Progeroid syndromes (LMNA)
Néstor-Guillermo Progeria Syndrome (BANF1)
Wiedemann-Rautenstrauch Syndrome (Neonatal Progeroid Syndrome)
MDPL syndrome (POLD1)
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy (FBN1)
Progeroid Syndrome Congenital, Petty type
Mulvihill-Smith Syndrome (Progeroid Short Stature with Pigmented Nevi)
Cockayne syndrome (XP/ERCC3/ERCC8)
Restrictive Dermopathy (LMNA, ZMPSTE24)
SHORT syndrome (PIK3R1)
Nakajo-Nishimura syndrome
JMP syndrome
CANDLE syndrome
Lipodystrophy-associated neurologic syndromes
ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (RBM28)
PANCREATIC AND CEREBELLAR AGENESIS (PTF1A)
LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES
Partial lipodystrophy – cataract – neurodegeneration syndrome
PROGRESSIVE ENCEPHALOPATHY, WITH OR WITHOUT LIPODYSTROPHY (BSCL2)
KEPPEN-LUBINSKY SYNDROMECONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (PMM2)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (ALG3)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (ALG12)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (COG7)
NICOLAIDES-BARAITSER SYNDROME (SMARCA2)
Other syndromes
PARRY-ROMBERG SYNDROME
ACRORENAL FIELD DEFECT, ECTODERMAL DYSPLASIA, AND LIPOATROPHIC DIABETES (AREDYLD)
EHLERS-DANLOS SYNDROME, TYPE IV (COL3A1)
Deafness-lipodystrophy-bone cysts
Proteus Syndrome (AKT1)
Acquired
Generalised
Lawrence syndrome
Partial
Barraquer-Simons syndrome
HAART (AIDS) associated
Scleroderma associated
Local
Drug associated:
Glucocorticoids
Post-injection: insulin, somatostatin analogs, pegvisomant
Semicircularis lipodystrophy
Lipodystrophy fugax
Panniculitis-associated lipodystrophy
Dercum Disease (adiposa dolorosa)
Roch and Leri lipomatosis
Symetric Multiple Lipomatosis (Launois-Bensaude syndrome) / Madelung disease