Aplasia cutis congenita: Two cases of non-scalp lesions
15 January 2020 (online)
Aplasia cutis congenita (ACC) is a rare condition characterized by a localized absence of skin and in some cases, the subcutaneous tissues. The majority of cases occur in the scalp; however, the lesion may occur anywhere in the trunk and extremities. ACC is most often an isolated defect, but it can be associated with other anomalies. Most reported cases are sporadic with a few reports of familial occurrence. Neither the pathogenesis nor the aetiology is clarified. Healing is spontaneous in most cases, and apart from keeping the lesion clean, no specific treatment is required. In this report, two cases of non-scalp ACC occurring in the lower limbs are presented and a brief review of the literature is conducted.
- 1 Moros Peña M, Labay Matías M, Valle Sánchez F, Valero Adán T, Martín-Calama Valero J, Muñoz Albillos M. [Aplasia cutis congenita in a newborn: etiopathogenic review and diagnostic approach]. An Esp Pediatr 2000;52:453-6.
- 2 Ahcan U, Janezic T. Management of aplasia cutis congenita in a non-scalp location. Br J Plast Surg 2002;55:530-2.
- 3 Demmel U. Clinical aspects of congenital skin defects. I. Congenital skin defects on the head of the newborn. Eur J Pediatr 1975;121:21-50.
- 4 Mannino FL, Jones KL, Benirschke K. Congenital skin defects and fetus papyraceus. J Pediatr 1977;91:559-64.
- 5 Atik B, Tan O, Bayram I, Tuncer O, Kirimi E. Asymmetrical nonscalp aplasia cutis congenita: a case report. J Dermatol 2004;31:923-6.
- 6 Benvenuto C, Kraemer CK, Kruse RL, Cestari TF. Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome? Skinmed 2003;2:319-21.
- 7 Lane W, Zanol K. Duodenal atresia, biliary atresia, and intestinal infarct in truncal aplasia cutis congenita. Pediatr Dermatol 2000;17:290-2.
- 8 Al-Salem AH. Congenital pyloric atresia and associated anomalies. Pediatr Surg Int 2007;23:559-63.
- 9 Taifour Suliman M, Quazi A. Aplasia cutis congenita of the trunk in a Saudi newborn. Br J Plast Surg 2004;57:582-4.
- 10 Martinez-Regueira S, Vazquez-Lopez ME, Somoza-Rubio C, Morales-Redondo R, Gonzalez-Gay MA. Aplasia cutis congenita in a defined population from northwest Spain. Pediatr Dermatol 2006;23:528-32.
- 11 Valdez RM, Barbero PM, Liascovich RC, De Rosa LF, Aguirre MA, Alba LG. Methimazole embryopathy: a contribution to defining the phenotype. Reprod Toxicol 2007;23:253-5.
- 12 Fimiani M, Seri M, Rubegni P, Cusano R, De Aloe G, Forabosco P, et al. Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions. Arch Dermatol Res 1999;21:637-42.
- 13 Lestringant G, al Towairky A. Three siblings with extensive aplasia cutis congenita of the scalp and underlying bone defect: autosomal recessive inheritance. Int J Dermatol 1989;28:278-9.
- 14 Hanson SG, Fine JD, Levy ML. Three new cases of transient bullous dermolysis of the newborn. J Am Acad Dermatol 1999;40:471-6.
- 15 Harris HH, Foucar E, Andersen RD, Ray TL. Intrauterine herpes simplex infection resembling mechanobullous disease in a newborn infant. J Am Acad Dermatol 1986;15:1148-55.
- 16 McGaughran J, Aftimos S. Setleis syndrome: three new cases and a review of the literature. Am J Med Genet 2002;111:376-80.
- 17 Brown ZA, Jung AL, Stenchever MA. Aplasia cutis congenita and the fetal scalp electrode. Am J Obstet Gynecol 1977;129:351-2.
- 18 Baer MR. Management of unusual presentations of acute leukemia. Hematol Oncol Clin North Am 1993;7:275-92.
- 19 Saraiya HA. Management of aplasia cutis congenita of the scalp: a continuing enigma. Br J Plast Surg 2002;55:707-8.
- 20 Simman R, Priebe CJ Jr, Simon M. Reconstruction of aplasia cutis congenita of the trunk in a newborn infant using acellular allogenic dermal graft and cultured epithelial autografts. Ann Plast Surg 2000;44:451-4.