- Congenital generalized lipodystrophy
-
Congenital generalized lipodystrophy Classification and external resources eMedicine article/1113171 Congenital generalized lipodystrophy (also known as Berardinelli–Seip syndrome) is a rare autosomal dominant skin condition, characterized by an extreme paucity of fat in the subcutaneous tissues.[1]:495
Contents
Genetics
OMIM Type Locus 608594 CGL1 AGPAT2 at 9q34.3 269700 CGL2 BSCL2 at 11q13 612526 CGL3 CAV1 at 7q31.1 613327 CGL4 PTRF at 17q21 Presentation
Berardinelli-Seip congenital lipodystrophy is a rare autosomal recessive condition associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy.[2] With characteristic features like hepatomegaly, accelerated growth, muscle hypertrophy, lack of adipose tissue, hirsutism and hypertriglyceridemia.[3] Common cardiovascular alterations related to this syndrome are cardiac hypertrophy and arterial hypertension.[4] and it is associated with metabolic syndrome.
See also
- Lipodystrophy
- Familial partial lipodystrophy
- List of cutaneous conditions
- Skin lesion
External links
References
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
- ^ Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G (2009). "Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation". Eur J Med Genet 52 (1): 14–6. doi:10.1016/j.ejmg.2008.10.006. PMID 19041432. http://linkinghub.elsevier.com/retrieve/pii/S1769-7212(08)00140-7. Retrieved 2009-03-04.
- ^ Gürakan F, Koçak N, Yüce A (1995). "Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings". Turk. J. Pediatr. 37 (3): 241–6. PMID 7502362.
- ^ Viégas RF, Diniz RV, Viégas TM, Lira EB, Almeida DR (September 2000). "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)". Arq. Bras. Cardiol. 75 (3): 243–8. PMID 11018810. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2000000900006&lng=en&nrm=iso&tlng=en.
Disorders of subcutaneous fat (M79.3, 729.3) Panniculitis Lobularwithout vasculitis: Cytophagic histiocytic panniculitis · Factitial panniculitis · Gouty panniculitis · Pancreatic panniculitis · Traumatic panniculitis (Cold panniculitis) · needle-shaped clefts (Subcutaneous fat necrosis of the newborn, Sclerema neonatorum, Post-steroid panniculitis) · Lipodermatosclerosis · Weber–Christian disease · Lupus erythematosus panniculitis · Sclerosing lipogranulomawith vasculitis: Nodular vasculitis/Erythema induratumSeptalwithout vasculitis: Alpha-1 antitrypsin deficiency panniculitis · Erythema nodosum (Acute erythema nodosum, Chronic erythema nodosum)with vasculitis: Superficial thrombophlebitisLipodystrophy Acquiredgeneralized: Acquired generalized lipodystrophy
partial: Acquired partial lipodystrophy · Centrifugal abdominal lipodystrophy · HIV-associated lipodystrophy · Lipoatrophia annularis
localized: Localized lipodystrophyCongenitalCongenital generalized lipodystrophy · Familial partial lipodystrophy
Poland's syndromeVesicle formation lysosome/melanosome: HPS1-HPS7 (Hermansky–Pudlak syndrome) · LYST (Chédiak–Higashi syndrome) ·
COPII: SEC23A (Cranio–lenticulo–sutural dysplasia)
APC: AP1S2 (X-Linked mental retardation 59) · AP3B1 (Hermansky–Pudlak syndrome 2) · AP4M1 (CPSQ3)Rab Cytoskeleton Vesicle fusion synaptic vesicle: SNAP29 (CEDNIK syndrome) · STX11 (Hemophagocytic lymphohistiocytosis 4)
caveolae: CAV1 (Congenital generalized lipodystrophy 3) · CAV3 (Limb-girdle muscular dystrophy 2B, Long QT syndrome 9)
vacuolar protein sorting: VPS33B (ARC syndrome) · VPS13B (Cohen syndrome)
DYSF (Distal muscular dystrophy)see also vesicular transport proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfkDeficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating proteinMarinesco–Sjögren syndrome · Aarskog–Scott syndrome · Juvenile primary lateral sclerosis · X-Linked mental retardation 1G protein cAMP/GNAS1: Pseudopseudohypoparathyroidism · Progressive osseous heteroplasia · Pseudohypoparathyroidism · Albright's hereditary osteodystrophy · McCune–Albright syndrome
CGL 2RAS: HRAS (Costello syndrome) · KRAS (Noonan syndrome 3, KRAS Cardiofaciocutaneous syndrome)
RAB: RAB7 (Charcot–Marie–Tooth disease) · RAB23 (Carpenter syndrome) · RAB27 (Griscelli syndrome type 2)
RHO: RAC2 (Neutrophil immunodeficiency syndrome)
ARF: SAR1B (Chylomicron retention disease) ARL13B (Joubert syndrome 8) · ARL6 (Bardet–Biedl syndrome 3)MAP kinase Other kinase/phosphatase RPS6KA3 (Coffin-Lowry syndrome) · CHEK2 (Li-Fraumeni syndrome 2) · IKBKG (Incontinentia pigmenti) · STK11 (Peutz–Jeghers syndrome) · DMPK (Myotonic dystrophy 1) · ATR (Seckel syndrome 1) · GRK1 (Oguchi disease 2) · WNK4/WNK1 (Pseudohypoaldosteronism 2)PTEN (Bannayan–Riley–Ruvalcaba syndrome, Lhermitte–Duclos disease, Cowden syndrome, Proteus-like syndrome) · MTM1 (X-linked myotubular myopathy) · PTPN11 (Noonan syndrome 1, LEOPARD syndrome, Metachondromatosis)Signal transducing adaptor proteins Other NF2 (Neurofibromatosis type II) · NOTCH3 (CADASIL) · PRKAR1A (Carney complex) · PRKAG2 (Wolff–Parkinson–White syndrome) · PRKCSH (PRKCSH Polycystic liver disease) · XIAP (XIAP2)see also intracellular signaling peptides and proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
