Metrika članka

  • citati u SCindeksu: 0
  • citati u Google Scholaru:[=>]
  • posete u prethodnih 30 dana:44
  • preuzimanja u prethodnih 30 dana:6
članak: 1 od 1  
Medicinski časopis
2016, vol. 50, br. 3, str. 110-114
jezik rada: srpski
vrsta rada: prikaz slučaja
doi:10.5937/mckg50-13026


'Collodion baby' - prikaz retkog familijarnog oblika lamelarne ihtioze
aClinical Center Kragujevac, Pediatric Clinic - Center for Neonatology, Kragujevac
bClinical Center Kragujevac, Pediatric Clinic - Center for Neonatology, Kragujevac + University of Kragujevac, Faculty of Medical Sciences, Department of Pediatrics

e-adresa: aleksandra.simovic@yahoo.com

Sažetak

Predsmavljamo slučaj muškog novorođenčeta rođenog vaginalnim putem, u 38. gestacijskoj nedelji, iz braka nekonsangvinitetnih roditelja. U porodičnoj istoriji nema podataka o kožnim oboljenjima roditelja, ali je starija sestra takođe imala znake lamelarne ihtioze. Majka je prenatalno dobijala uobičajenu zaštitu, spontana ruptura plodovih ovojaka desila se oko dva sata pre porođaja, Apgar skor u 1. i 5. minutu iznosio je 7/7, težina 3.410 g, dužina 54 cm, a obim glave 35 cm. Nakon inicijalnog fizikalnog pregleda uočeno je postojanje tanke kolodijumske membrane, koja je prekrivala veći deo kože. Koža je bila sjajna, suva, u vidu smeđežute opne, s pukotinama u predelu vrata i na prevojima. Takođe, uočeno je izraženo izvrtanje ka spolja oba očna kapka (ectropia) i usana (eclabium) i prisustvo malih, loše modeliranih ušnih školjki. Kompletna krvna slika i biohemijske analize bili su normalni za uzrast. Serološkim analizama dokazano je povećanje titra antitela lgG klase na Rubella i Citomegalovirus. Ostali serološki testovi bili su negativni. Brisom kože izolovani su: Enterococcus species, Klebsiela-Enterobacter i Pseudomonas species. Patohistološki nalaz isečka kože pokazao je hiperkeratozu 'lamelarnog ' tipa, zadebljan granularni sloj sa izduženim epidermalnim prečkama 'zupčastog ' tipa. U gornjem dermu uočavali su se nezreli folikuli dlaka i lak stepen perivaskularnog limfocitnog infiltrata. Citogenetska analiza limfocita periferne krvi pokazala je prisustvo normalnog muškog kariotipa 46 HU.

Ključne reči

ihtioza; lamelarna; oboljenja kože; dijagnoza; novorođenče; terapija

Reference

Al-Hussain, H. (2005) Congenital upper eyelid eversion complicated by corneal perforation. British Journal of Ophthalmology, 89(6): 771-771
Beverley, D.W., Wheeler, D. (1986) High plasma urea concentrations in collodion babies. Archives of Disease in Childhood, 61(7): 696-698
Bongain, A., Benoit, B., Ejnes, L., Lambert, J.C., Gillet, J.Y. (2002) Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach. Ultrasound in Obstetrics and Gynecology, 20(1): 82-85
Boparai, M.S., Dash, R.G., Sohi, B.K. (1988) Lamellar ichthyosis (collodion baby) with severe bilateral ectropion. Indian J Ophthalmol, 36: 140-1
Chakraborti, C., Tripathi, P., Bandopadhyay, G., Mazumder, D. (2011) Congenital bilateral ectropion in lamellar ichthyosis. Oman Journal of Ophthalmology, 4(1): 35
Chiaretti, A., Wismayer, D.S., Tortorolo, L., Piastra, M., Polidori, G. (1997) Salicylate intoxication using a skin ointment. Acta Paediatrica, 86(3): 330-331
Facchiano, A., Facchiano, F. (2008) Transglutaminases and their substrates in biology and human diseases: 50 years of growing. Amino Acids, 36(4): 599-614
Farasat, S., Wei, M., Herman, M., Liewehr, D.J., Steinberg, S.M., Bale, S.J., Fleckman, P., Toro, J.R. (2008) Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. Journal of Medical Genetics, 46(2): 103-111
Hazell, M. (1985) Clinical, Histologic, and Cell Kinetic Discriminants Between Lamellar Ichthyosis and Nonbullous Congenital Ichthyosiform Erythroderma. Archives of Dermatology, 121(4): 489
Herman, M.L., Farasat, S., Steinbach, P.J., Wei, M., Toure, O., Fleckman, P., Blake, P., Bale, S.J., Toro, J.R. (2009) Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1. Human Mutation, 30(4): 537-547
Huber, M., Rettler, I., Bernasconi, K., Frenk, E., Lavrijsen, S., Ponec, M., Bon, A., Lautenschlager, S., Schorderet, D., Hohl, D. (1995) Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science, 267(5197): 525-528
Imtiyaz, A.L., Reyaz, A.U., Shekh, S.A. (2004) Bilateral Severe Ectropion and Mature Cataract in Lamellar ichthyosis. J North Zone Ophthalmology Soc, 6: 157-8
Luu, M., Cantatore-Francis, J.L., Glick, S.A. (2010) Prenatal diagnosis of genodermatoses: current scope and future capabilities. International Journal of Dermatology, 49(4): 353-361
Paige, D.G., Judge, M.R., Shaw, D.G., Atherton, D.J., Harper, J.I. (1992) Bone changes and their significance in children with ichthyosis on long-term etretinate therapy. British Journal of Dermatology, 127(4): 387-391
Peňa-Peňabad, C., García-Silva, J., de Unamuno-Pérez, P. (1996) Estudio clínico e histopatológico de 17 casos de ictiosis laminar. Actas Dermosifiliogr, 365-438
Pigg, M., Tobias, G., Cox, D., Haußer, I., Anton-Lamprecht, I., Dahl, N. (1999) Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. European Journal of Human Genetics, 6(6): 589-596
Ramirez, M.E., Youseef, W.F., Romero, R.G., Martinez, J.M.Q., Gonzalez-Ensenat, M.A., Vilaplana, X.S., Cubells, C.L. (2006) Acute Percutaneous Lactic Acid Poisoning in a Child. Pediatric Dermatology, 23(3): 282-285
Rodríguez-Pazos, L., Ginarte, M., Vega, A., Toribio, J. (2013) Autosomal Recessive Congenital Ichthyosis. Actas Dermo-Sifiliográficas (English Edition), 104(4): 270-284
Saracoglu, Z.N., Tekin, N., Urer, S.M., Sabuncu, I., Aksit, A. (2002) Oral acitretin treatment in severe congenital ichthyosis of the neonate. Turk J Pediatr, 44: 61-4
Thomas, A.C., Tattersall, D., Norgett, E.E., O`Toole, E.A., Kelsell, D.P. (2009) Premature Terminal Differentiation and a Reduction in Specific Proteases Associated with Loss of ABCA12 in Harlequin Ichthyosis. American Journal of Pathology, 174(3): 970-978
Traupe, H. (1989) The Ichthyoses: A guide to diagnosis, genetic counseling, and therapy. Berlin i dr: Springer
Traupe, H., Burgdorf, W.H.C. (2007) Treatment of ichthyosis–There is always something you can do! In Memoriam: Wolfgang Küster. Journal of the American Academy of Dermatology, 57(3): 542-547
Tsuji-Abe, Y., Akiyama, M., Nakamura, H., Takizawa, Y., Sawamura, D., Matsunaga, K., Suzumori, K., Shimizu, H. (2004) DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings. Journal of the American Academy of Dermatology, 51(6): 1008-1011
Uitto, J., Pfendner, E., Jackson, L.G. (2003) Probing the fetal genome: progress in non-invasive prenatal diagnosis. Trends in Molecular Medicine, 9(8): 339-343
van Gysel, D., Lijnen, R., Moekti, S., de Laat, P., Oranje, A. (2002) Collodion baby: a follow-up study of 17 cases. Journal of the European Academy of Dermatology and Venereology, 16(5): 472-475
Williams, M.L. (1985) Heterogeneity in Autosomal Recessive Ichthyosis. Archives of Dermatology, 121(4): 477
Yanagi, T., Akiyama, M., Nishihara, H., Ishikawa, J., Sakai, K., Miyamura, Y., Naoe, A., Kitahara, T., Tanaka, S., Shimizu, H. (2010) Self-Improvement of Keratinocyte Differentiation Defects During Skin Maturation in ABCA12-Deficient Harlequin Ichthyosis Model Mice. American Journal of Pathology, 177(1): 106-118