Aplasia cutis congenita: Three cases with three different underlying etiologies

Turkish Journal of Pediatrics

Volumn 51, Issue 5, 2009, Pages 510-514

  Mihçi, Ercan ^a   Erişir, Seyhan ^a   Taçoy, Şükran ^a   Lüleci, Güven ^a   Alpsoy, Erkan ^a   Oygür, Nihal ^a  

^a AKDENIZ UNIVERSITY FACULTY OF MEDICINE   (Turkey)

Author keywords

Aplasia cutis congenita; Fetal valproate syndrome; Trisomy 13

Indexed keywords

CARBAMAZEPINE; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; VALPROIC ACID;

ANTIBODY TITER; AORTA COARCTATION; ARTICLE; ARTIFICIAL VENTILATION; BODY HEIGHT; BODY WEIGHT; BONE DEFECT; CAMPTODACTYLY; CASE REPORT; CATARACT; CAUDATE NUCLEUS; CESAREAN SECTION; CHROMOSOME ANALYSIS; CISTERNA MAGNA; CLEFT PALATE; CLINODACTYLY; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL RUBELLA SYNDROME; CORPUS CALLOSUM AGENESIS; CYTOMEGALOVIRUS; EPICANTHUS; EVOKED AUDITORY RESPONSE; EXTERNAL EAR MALFORMATION; FACE DYSMORPHIA; FEMALE; FLATFOOT; FLEXION CONTRACTURE; FRONTAL BOSSING; GREAT VESSELS TRANSPOSITION; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HEART ATRIUM SEPTUM DEFECT; HEART MURMUR; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HEPATOMEGALY; HUMAN; INTRAUTERINE INFECTION; INTUBATION; IRIS COLOBOMA; KARYOTYPING; LOW SET EAR; MACULOPAPULAR RASH; MALE; METABOLIC ACIDOSIS; MICROPENIS; MICROPHTHALMIA; MITRAL VALVE REGURGITATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE; PATENT DUCTUS ARTERIOSUS; PHIMOSIS; RESPIRATORY DISTRESS; RUBELLA; SEROLOGY; SKIN APLASIA; SKIN ATROPHY; SKIN EXAMINATION; SYSTOLIC HEART MURMUR; TRISOMY 13; TWO DIMENSIONAL ECHOCARDIOGRAPHY;

ABNORMALITIES, DRUG-INDUCED; ABNORMALITIES, MULTIPLE; ANTICONVULSANTS; CHROMOSOMES, HUMAN, PAIR 13; ECTODERMAL DYSPLASIA; FEMALE; HUMANS; INFANT, NEWBORN; MALE; RUBELLA SYNDROME, CONGENITAL; SCALP; TRISOMY; VALPROIC ACID;

EID: 76149095931     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Campbell W. Case of congenita ulcer on the cranium of a fetus. Edinburgh J Med Sci 1826;2:82.
2. Antaya R, Schaffer JV. Aplasia cutis congenita. In: Bolognia JL, Jorizzo JL, Rapini RP (eds). Dermatology (2nd ed). Spain: Mosby; 2004: 922-925.
3. Demmel U. Clinical aspects of congenital skin defects: I. Congenital skin defects on the head of the newborn; II. Congenital skin defects on the trunk and extremities of the newborn; III. Causal and formal genesis of congenital skin defects of the newborn. Eur J Pediatr 1975; 121: 21-50.
4. Jeromin JK, Janik J, Rykala J. Aplasia cutis congenita of the scalp. Dermatol Surg 1998; 24: 549-553.
5. Raghavan KR, Iyengar J, Lokeshwar MR, et al. Familial aplasia cutis congenita in 5 successive generations. Indian J Pediatr 1990; 57: 799-802.
6. Itin P, Pletscher M. Familial aplasia cutis congenita of the scalp without other defects in 6 members of the successive generations. Dermatologica 1988; 177: 123-125.
7. Hubert A, Bonneau D, Couet D, et al. Aplasia cutis congenita of the scalp in an infant exposed to valproic acid in utero. Acta Paediatr 1994; 83: 789-790.
8. Evers ME, Steijlen PM, Hamel BC. Aplasia cutis congenita and associated disorders: an update. Clin Genet 1995; 47: 295-301.
9. Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol 1986; 14: 646-660.
10. Martinez-Regueira S, Vazquez-Lopez ME, Somoza-Rubio C, et al. Aplasia cutis congenita in a defined population from northwest Spain. Pediatr Dermatol 2006; 23: 528-532.
11. Zehnaly A, Hosokawa R, Urata M, Chai Y. TGF-beta signaling and aplasia cutis congenita: proposed animal model. J Calif Dent Assoc 2007; 35: 865-869.
12. Grzeschik KH, Bornholdt D, Oeffner F, et al. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet 2007; 39: 833-835.
13. Wang X, Sutton VR, Omar Peraza-Llanes J, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 2007; 39: 836-838.
14. Caksen H, Kurtoglu S. Our experience with aplasia cutis congenita. J Dermatol 2002; 29: 376-379.
15. De Santis M, Cavaliere AF, Straface G, Caruso A. Rubella infection in pregnancy. Reprod Toxicol 2006; 21: 390-398.
16. thed). Philadelphia: W.B. Saunders Co; 1997: 18-19.