A case of systemic aplasia cutis congenita: A newly recognized syndrome?

European Journal of Pediatrics

Volumn 167, Issue 4, 2008, Pages 409-413

  Sugiura, Tokio ^a   Kouwaki, Masanori ^a   Kiyosawa, Shusuke ^a   Sasada, Yoshie ^a   Maeda, Matsuyoshi ^a   Goto, Kenji ^b   Koyama, Norihisa ^a  

^a TOYOHASHI MUNICIPAL HOSPITAL   (Japan)

^b NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

Author keywords

Aplasia cutis congenita; Calcifications of hepatic capsule; Esophageal atresia; Skull defect; Syndactyly

Indexed keywords

ARTICLE; BODY SURFACE; CALCIFICATION; CASE REPORT; CONGENITAL MALFORMATION; DEHYDRATION; EPIDERMIS; ESOPHAGUS ATRESIA; FEMALE; HUMAN; HUMAN TISSUE; INTESTINE MALROTATION; LIVER DISEASE; LUNG HYPOPLASIA; MICROSCOPY; MUSCLE CELL; NEWBORN; PRIORITY JOURNAL; SKIN APLASIA; SKIN APPENDAGE; SKULL DEFECT; SYNDACTYLY; SYNDROME; SYSTEMIC DISEASE;

DIAGNOSIS, DIFFERENTIAL; ECTODERMAL DYSPLASIA; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; RADIOGRAPHY, ABDOMINAL; SKIN; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 40049098573     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-007-0512-1     Document Type: Article

References (20)

1. Bailie FB (1983) Aplasia cutis congenita of neck and shoulder requiring a skin graft: a case report. Br J Plast Surg 36:72-74
2. Barrow LL, van Bokhoven H, Daack-Hirsch S, Andersen T, van Beersum SE, Gorlin R, Murray JC (2002) Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. J Med Genet 39:559-566
3. Boente MC, Frontini MV, Acosta MI, Saleme C, Barrionuevo S, Asial R (1995) Extensive symmetric truncal aplasia cutis congenita without fetus papyraceus or macroscopic evidence of placental abnormalities. Pediatr Dermatol 12:228-230
4. Carmi R, Sofer S, Karplus M, Ben-Yakar Y, Mahler D, Zirkin H, Bar-Ziv J (1982) Aplasia cutis congenita in two sibs discordant for pyloric atresia. Am J Med Genet 11:319-328
5. Cohen MM Jr (1991) Hallerman-Streiff syndrome: a review. Am J Med Genet 41:488-499
6. Evers ME, Steijlen PM, Hamel BC (1995) Aplasia cutis congenita and associated disorders: an update. Clin Genet 47:295-301
7. Finnigan DP, Clarren SK, Hass JE (1991) Extending the Pallister-Hall syndrome to include other central nervous system malformations. Am J Med Genet 40:395-400
8. Harris HH, Foucar E, Andersen RD, Ray TL (1986) Intrauterine herpes simplex infection resembling mechanobullous disease in a newborn infant. J Am Acad Dermatol 15:1148-1155
9. Hurst JA, Baraitser M (1989) Johanson-Blizzard syndrome. J Med Genet 26:45-48
10. Kang S, Graham JM Jr, Olney AH, Biesecker LG (1997) GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 15:266-268
11. Kantor J, Yan AC, Hivnor CM, Honig PJ, Kirschner R (2005) Extensive aplasia cutis congenita and the risk of sagittal sinus thrombosis. Arch Dermatol 141:554-556
12. Mau U, Kendziorra H, Kaiser P, Enders H (1997) Restrictive dermopathy: report and review. Am J Med Genet 71:179-185
13. Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N (2004) Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 13:2493-2503
14. Park MS, Hahn SH, Hong CH, Kim JS, Kim HS (1998) Extensive form of aplasia cutis congenita: a new syndrome? J Med Genet 35:609-611
15. Roelfsema NM, Cobben JM (1996) The EEC syndrome: a literature study. Clin Dysmorphol 5:115-127
16. Toriello HV, Higgins JV, Waterman DF (1983) Autosomal-recessive aplasia cutis congenita-report of two affected sibs. Am J Med Genet 15:153-156
17. Toriello HV (1990) Wiedemann-Rautenstrauch syndrome. J Med Genet 27:256-257
18. Verloes A, Mulliez N, Gonzales M, Laloux F, Hermanns-Le T, Pierard GE, Koulischer L (1992) Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature. Am J Med Genet 43:539-547
19. Whitley CB, Gorlin RJ (1991) Adams-Oliver syndrome revisited. Am J Med Genet 40:319-326
20. Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hulskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A (2005) Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet 37:1345-1350