Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by a localized absence of epidermis, dermis and in some cases subcutaneous tissue. It was first described by Cordon in 1767 [1,2]. ACC may occur anywhere in the body, however, in 84% of the cases, the defect is found in the scalp [3]. ACC was reported to affect 1 in 10,000 live births [4,5]. Majority of the published cases of ACC are sporadic, with a few reports describing a familial occurrence in the form of autosomal dominant [6] as well as autosomal recessive [7] pattern of inheritance.

We  presented  a case  Aplasia Cutis congenita Scalp and wide nonscalp right lower limb lesions, Our case is a male term baby 39 +4/7weeks , delivered by Vacuum as there was fetal distress, Mother is a Filipino lady ,Primi Gravida, 24 years old with gestational diabete,She has no risk factors. This baby has wide aplasia cutis congenital on the lower right limb (20x4 cm) (Figure 1a, 1b) extend from the big toe to above the knee   and a small lesion on the scalp (1.5 x1.cm) (Figure 2a, 2b). A complete physical examination was done and showed a small ACC and a wide ACC on the right lower limb. A partial septic screening was done to protect baby from infection and antibiotics were giving for 48 hours of negative blood culture, swab culture from the lesion was negative.

• Protein S&C and Factor V Leiden normal
• Chromosomal microarray analysis was normal.
• US (skull, abdomen) was done and it was normal.
  Figure 1A, 1B: This baby has wide aplasia cutis congenital on the lower right limb (20x4 cm).
  

  Figure 2A, 2B: Extend from the big toe to above the knee   and a small lesion on the scalp (1.5 x1.cm).

The exact pathogenesis of ACC is unknown. Various theories have been proposed, including the incomplete closure of the neural tube or embryonic fusion lines, intrauterine trauma, vascular compromise from placental insufficiency, amniotic membrane adhesions, intrauterine infectious, genetic mutations, and tetragens. The only known gene associated with non syndromic ACC (MIM#107600) is BMS1, a ribosomal ATPase located on chromosome 10q11 and involved in pre ribosomal RNA processing, which has been described in one family [8]. A widely accepted classification of ACC, based upon the location and pattern of the skin defect, presence of associated abnormalities, and mode of inheritance, was proposed in 1986 [9]. ACC should be differentiated from obstetric trauma from forceps, placement of fetal scalp electrodes, or other potential birth injury. ACC should be distinguished from congenital Volkmann ischemic contracture, a very rare entity in the newborn characterized by asymmetric, well-demarcated, stellate ulcerations of the extremities with muscular and neurologic impairment [10].

There was a strong family history as the father has ACC on the left thumb and it cured with remaining scar, also the baby’s uncle (father’s brother) has ACC and it cured completely.

Outcome and Follow-up

Baby was seen by wound care team and the lesion cleaned by normal saline and Fucoid ointment was applied.

Baby has every other day follow up for cleaning.

At age of 5 months the lesion becomes smaller is size (2x1 cm) with granulation tissue with low exudates.

Patient consent for publication

We obtained written informed consent from the patient legal guardian(s) to publish this case report and any accompanying images. A copy of written consent is available for review by the editor in chief of this journal.

Funding: No funding has been received for this report.

There was a strong family history as the father has ACC on the left thumb and it cured with remaining scar, also the baby’s uncle (father’s brother) has ACC and it cured completely.

Disclosure: We declare that no conflicts of interest for this case report.

1. Pena MM, Matias ML, Sanchez FV, Adan TV, Valero JMC, Albillos MM, et al. Aplasia cutis congenita in a newborn: etiopathogenic review and diagnostic approach. An Esp Pediatr. 2000; 52: 453-456.
2. Ahcan U, Janezic T. Management of aplasia cutis congenita in a non-scalp location. Br J Plast Surg. 2002; 55: 530-532.
3. Demmel U. Clinical aspects of congenital skin defects. 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: 559-564.
5. Suliman MT, Quazi A. Aplasia cutis congenita of the trunk in a Saudi newborn. Br J Plast Surg. 2004; 57: 582-584.
6. 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: 637-642.
7. 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: 278-279.
8. Marneros AG. BMS1 Is Mutated in Aplasia Cutis Congenita. PLoS Genet. 2013; 9: e1003573.
9. Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol. 1986; 14: 646 -660.
10. Neri I, Magnano M, Pini A, et al. Congenital Volkmann syndrome and aplasia cutis of the forearm: a challenging differential diagnosis. JAMA Dermatol. 2014; 150: 978-980.