In vivo reflectance confocal microscopy of the skin: A noninvasive means of assessing body cystine accumulation in infantile cystinosis

Journal of the American Academy of Dermatology

Volumn 68, Issue 4, 2013, Pages

  Chiavérini, Christine ^a,d   Kang, Hee Young ^a   Sillard, Laura ^a   Berard, Etienne ^a   Niaudet, Patrick ^b   Guest, Geneviève ^b   Cailliez, Mathilde ^c   Bahadoran, Philippe ^a   Lacour, Jean Philippe ^a   Ballotti, Robert ^d   Ortonne, Jean Paul ^a  

^a CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c TIMONE HOSPITAL   (France)

^d INSERM   (France)

Author keywords

cystine; extrarenal complications; in vivo reflectance confocal microscopy; infantile cystinosis; prognosis; skin

Indexed keywords

CYSTINE; MERCAPTAMINE;

ADOLESCENT; ADULT; AMINO ACID METABOLISM; ARTICLE; CHILD; CLINICAL ARTICLE; CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; CYSTINOSIS; DENSITY; DERMIS; ELECTRON MICROSCOPY; FEMALE; HUMAN; HUMAN CELL; HYPOPIGMENTATION; IN VIVO STUDY; INFANTILE NEPHROGENIC CYSTINOSIS; KIDNEY DISEASE; LEUKOCYTE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKIN FIBROBLAST;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CYSTINE; CYSTINOSIS; FEMALE; HUMANS; MALE; MICROSCOPY, CONFOCAL; YOUNG ADULT;

EID: 84884212723     PISSN: 01909622     EISSN: 10976787     Source Type: Journal    
DOI: 10.1016/j.jaad.2011.08.010     Document Type: Article

References (16)

1. W.A. Gahl, J.G. Thoene, and J.A. Schneider Cystinosis N Engl J Med 347 2002 111 121
2. G. Nesterova, and W. Gahl Nephropathic cystinosis: late complications of a multisystemic disease Pediatr Nephrol 23 2008 863 878
3. W.A. Gahl, J.Z. Balog, and R. Kleta Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy Ann Intern Med 147 2007 242 250 (Pubitemid 351664580)
4. G. Guillet, B. Sassolas, S. Fromentoux, E. Gobin, and J.P. Leroy Skin storage of cystine and premature skin ageing in cystinosis Lancet 352 1998 1444 1445 (Pubitemid 28510886)
5. P. Calzavara-Pinton, C. Longo, M. Venturini, R. Sala, and G. Pellacani Reflectance confocal microscopy for in vivo skin imaging Photochem Photobiol 84 2008 1421 1430
6. P. Corcuff, G. Gonnord, G.E. Pierard, and J.L. Leveque In vivo confocal microscopy of human skin: a new design for cosmetology and dermatology Scanning 18 1996 351 355
7. J.J. Nordlund, R.E. Boissy, V.J. Hearing, R.A. King, and J.-P. Ortonne The pigmentary system 1998 University Press Oxford
8. V. Kalatzis, L. Cohen-Solal, B. Cordier, Y. Frishberg, M. Kemper, and E.M. Nuutinen Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis Hum Mutat 20 2002 439 446 (Pubitemid 35453560)
9. V. Kalatzis, N. Nevo, S. Cherqui, B. Gasnier, and C. Antignac Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin Hum Mol Genet 13 2004 1361 1371 (Pubitemid 38961643)
10. W.A. Gahl Early oral cysteamine therapy for nephropathic cystinosis Eur J Pediatr 162 Suppl 2003 S38 S41
11. R. Kleta, I. Bernardini, M. Ueda, W.S. Varade, C. Phornphutkul, and D. Krasnewich Long-term follow-up of well-treated nephropathic cystinosis patients J Pediatr 145 2004 555 560 (Pubitemid 39345997)
12. N. Nevo, M. Chol, A. Bailleux, V. Kalatzis, L. Morisset, and O. Devuyst Renal phenotype of the cystinosis mouse model is dependent upon genetic background Nephrol Dial Transplant 25 2010 1059 1066
13. P. Sansanwal, B. Yen, W.A. Gahl, Y. Ma, L. Ying, and L.J. Wong Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis J Am Soc Nephrol 21 2010 272 283
14. P. Sansanwal, N. Kambham, and M.M. Sarwal Caspase-4 may play a role in loss of proximal tubules and renal injury in nephropathic cystinosis Pediatr Nephrol 25 2010 105 109
15. J.G. Thoene A review of the role of enhanced apoptosis in the pathophysiology of cystinosis Mol Genet Metab 92 2007 292 298 (Pubitemid 350117712)
16. P. Sansanwal, B. Yen, W.A. Gahl, Y. Ma, L. Ying, and L.J. Wong Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis J Am Soc Nephrol 21 2010 272 283