LIPOHYPOTROPHIC SYNDROMES

Genetics

Generalised

Berardinelli-Seip syndrome

type 1 (AGPAT2)
type 2 (BSCL2)

type 3 (CAV1)
type 4 (PTRF)
Unknown genes

Donohue syndrome or Leprechaunism (INSR)

  

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

type A (LMNA)
type B (ZMPSTE24)

Werner syndrome (RECQL2)

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)

    

Auto-inflamatory syndromes (PSMB8)

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


LIPOHYPERTROPHIC SYNDROMES


Dercum Disease (adiposa dolorosa)
Roch and Leri lipomatosis
Symetric Multiple Lipomatosis (Launois-Bensaude syndrome) / Madelung disease


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