Aplasia cutis congenita with fetus papyraceus: an uncommon case report

INTRODUCTION

Aplasia cutis congenita (ACC) is congenital absence of the skin, first described in 1767 by Cordon.¹ The lesions are typically well demarcated and stellate and may have granulating tissue at the margins. Depending on location, there can be variable absence of the epidermis, dermis, subcutaneous fat, adnexal structures, and underlyingbone.^1-3 The etiology and pathogenesis are unknown, although several theories exist, including vascular compromise (hypotension or thrombosis), trauma, infection, and teratogens.^4,5 Approximately 85% of the lesions are located on the scalp, with the remainder occurring on the trunk and limbs.^2,6 ACC in general can be isolated lesions or have associated congenital anomalies.⁷ It is typically sporadically inherited, but there are reports of familial cases.⁵ In an attempt to categorize ACC, Frieden proposed a classification system based on location and associated anomalies.⁷ When ACC is associated with a monochorionic twin pregnancy in which one of the fetuses is lost, referred to as fetus papyraceus, the designation is type V ACC. When the co-twin demise happens before 14 weeks gestation, the lesions are typically on the trunk. If the co-twin demise happens after 14 weeks, the lesions are characteristically on the extremities.^8,9 Affected areas may appear membranous or partially healed with contractures depending on when the insult happened. The etiology of this specific type of ACC is thought to be due to hypotension or disseminated intravascular coagulation associated with the loss of the monozygotic twin.^10-12 There are vascular anastomoses in monochorionic twins, so when the co-twin dies, it is conceivable that the surviving fetus is exposed to emboli and or hypovolemia affecting watershed areas of the surviving twin.¹³ We report a case of a neonate with ACC on Knees associated with the loss of a monozygotic twin. The focus of this report and discussion is on conservative management and prognosis of type V ACC.

CASE REPORT

A twin pregnancy was complicated by in-utero death of one twin at 5 months. For the remainder of pregnancy, another twin was monitored frequently with ultrasound scan. No anatomical abnormalities were noticed. Live fetus didn’t have any growth retardation or distress during the rest of the pregnancy. Delivery was at full term at 38 weeks. Live baby was delivered along with mummified dead fetus. On delivery it was noticed that large portion of skin over both knees were missing (Figure 1). There was no history of vesicles or bullae in that area. There was no history of preceding trauma to that area. Vitals of the newborn were normal. Dressing with topical Silver sulfadiazine was given for few weeks after delivery. Any signs of infections were looked for. Adequate fliud balance was maintained to replenish the loss through the lesion. Topcical Silver sulfadiazine was stopped once the lesion became dry and then kept opened as the healing ensued. Emollients were used for the scar after healing. Controlled mobilization of knee joints and massaging was done after healing inorder to avoid contractures and movement restriction. Re-epithelialization was complete in few months. 4 months after delivery, infant had a well-defined atrophic scar over bilateral anterior knees with less contracture (Figure 2).

DISCUSSION

There are not clear recommendations for the management of ACC. The literature describes management of giant scalp lesions in conservative and an immediate surgical manner.^14,15 With large scalp lesions and exposed duramater, there is the potential for meningitis, fluid and electrolyte imbalance, and bleeding from the sagittal sinus and adjacent vessels.^14-17 With a large ACC lesion on the trunk or lower extremities, there is the potential for fluid and electrolyte shifts and infection, but there is not the risk of bleeding or meningitis seen with scalp lesions. The treatment and outcomes seen with large scalp ACC offer some insights when treating nonscalp ACC in that lesions on the trunk and extremities have the potential need for urgent surgical coverage, albeit only if conservative management fails or is not an option. The pediatric population presents a unique situation in which children anecdotally are able to heal larger wounds than adults. Depth of nonscalp ACC is difficult to assess. As in this case, there appeared to be only a thin fascial layer keeping the abdominal and thoracic contents in. This film-like layer appeared highly susceptible to desiccation and did not appear adequate to support neoepi the lization. Maintaining a moisture-rich, antimicrobial environment was imperative in our attempt to treat this lesion in a non-surgical manner. Larger and deeper lesions are at increased risk for fluid and electrolyte derangements and subsequent contractures and scarring. Infection is always a risk with exposed soft tissue. Close monitoring of electrolyte and fluid status is essential in the first few weeks of life. The emphasis of our treatment plan is to proceed conservatively and be prepared to address complications if they arise. To minimize fluid loss and infection, we recommend an antimicrobial and near-occlusive dressing. Dressings should be changed twice daily to maintain an adequate moist environment. At the first sign of infection, intravenous or topical antibiotics can be started, depending on the clinical nature of the infection. If there is a cessation of epithelialization, this needs to be assessed to see if local debridement with a different type of dressing care or surgical debridement would facilitate continued skin growth. If there is lack of progress in epithelization or signs of infection or if fluid losses become difficult to manage, skin grafting becomes an option. Skin grafting or coverage with cellular membranes can only occur when there is no evidence of infection. As wounds epithelialize, they start to contract. As with burns, we recommend vigorous massage for a full year before attempting surgical release of the scars. Scars are typically considered mature after approximately 1 year, and scar revision is typically instituted after this time. Potential options would be dermabrasion and fractionated laser therapy, depending on the appearance of the scar. Another possibility would be continued observation. Even with skin grafting or use of a synthetic bio membrane, scarring is a concern, and there is no clear evidence that either of these offers a better cosmetic outcome. The primary reasons to employ skin grafting or wound coverage are if the wound fails to epithelialize fully or complications arise from fluid or electrolyte imbalance. There has been some concern in the literature about potential toxicity and side effects from silver sulfadiazine when used over large surface areas. Some of the reported side effects from silver sulfadiazine include anemia, renal insufficiency, seizures, and high liver enzymes. Little is known about dose and duration of therapy that leads to toxicity.¹⁸ A caveat to our treatment algorithm would be that, if there is evidence of side effects from the silver sulfadiazine, it can be discontinued and switched to antibiotic ointment and petrolatum gauze dressings twice daily, but topical antibiotic use can lead to overgrowth of fungal skin elements, and the patient would need to be monitored. Another alternative would be to use petrolatum covered by petrolatum gauze, realizing that a large skin defect such as ACC is at major risk for infection, to close observation would be warranted given the lack of antimicrobial coverage. Giant scalp ACC has been treated with silver sulfadiazine without sequelae.¹⁴ Furthermore, there are large case series of exomphalos major being treated conservatively with silver sulfadiazine also without side effects.^19,20 It remains our practice to use silver sulfadiazine with large ACC lesions.

CONCLUSION

Diagnosis of ACC is clinical with a few reports on histopathology, which reveal absence of epidermis, dermis, adnexa and sometimes subcutaneous tissue depending upon the depth of the defect. Regular ultrasonography during antenatal checkup sometime helps in early diagnosis of ACC. The normal fetal skin generates strong echoes on ultrasound while in ACC such echoes are absent. Management of type V ACC is going to become increasingly important with increasing use of in vitro fertilization and other fertility treatments. These therapies are known to increase the incidence of multiple gestations. Our conservative approach offers protection from infection and attempts to prevent fluid and electrolyte derangements. Furthermore, it allows the therapy to be adapted as the lesion heals. At any point along the way, the plan can be adapted based on the clinical status of the patient. An additional benefit of a conservative approach is that it may extend lengths of stay in the hospital because patients can be followed closely on an outpatient basis.

Funding: No funding sources

Conflict of interest: None declared

Ethical approval: Not required

REFERENCES

1. 1. Maccario S, Fasolato V, Brunelli A et al. Aplasia cutis congenita: an association with vanishing twin syndrome. Eur J Dermatol. 2009;19:372-4.
2. 2. 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.
3. 3. Taifour Suliman M, Quazi A. Aplasia cutis congenita of the trunk in a Saudi newborn. Br J Plast Surg. 2004;57:582-4.
4. 4. Bui D, Ikeda C. Reconstruction of aplasia cutis congenita (group V) of the trunk in a newborn. Plast Reconstr Surg. 2003;111:2119-20.
5. 5. Prager W, Scholz S, Rompel R. Aplasia cutis congenita in two siblings. Eur J Dermatol. 2002;12:228-30.
6. 6. Verhelle NA, Heymans O, Deleuze JP et al. Abdominal aplasia cutis congenita: case report and review of the literature. J Pediatr Surg. 2004;39:237-9.
7. 7. Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol. 1986;14:646-60.
8. 8. Mannino FL, Jones KL, Benirschke K. Congenital skin defects and fetus papyraceus. J Pediatr. 1977;91:559-64.
9. 9. Schaffer JV, Popiolek DA, Orlow SJ. Symmetric truncal aplasia cutis congenita following multifetal reduction of a sextuplet pregnancy. J Pediatr. 2008;153:860-3.
10. 10. Classen DA. Aplasia cutis congenita associated with fetus papyraceous. Cutis. 1999;64:104-6.
11. 11. Joshi RK, Majeed-Saidan MA, Abanmi A et al. Aplasia cutis congenita with fetus papyraceus. J Am Acad Dermatol. 1991;25:1083-5.
12. 12. Qureshi UA, Ahmed N. Type V aplasia cutis congenita. Ann Saudi Med. 2010;30:171-2.
13. 13. Lewi L, Van Schoubroeck D, Gratacos E. et al. Monochorionic diamniotic twins: complications and managementoptions.Curr Opin Obstet Gynecol. 2003;15:177-94.
14. 14. Rhee ST, Colville C, Buchman SR. Complete osseous regeneration of a large skull defect in a patient with cutis aplasia: a conservative approach. Journal of Craniofacial Surgery. 2002;13(4):497-500.
15. 15. Ploplys EA, Muzaffar AR, Gruss JS, Ellenbogen RG. Early composite cranioplasty in infants with severe aplasia cutis congenita: a report of two cases. Cle Palate-craniofac J. 2005;42(4):442-7.
16. 16. Basterzi Y, Bagdatoglu C, Sar A, Demirkan F. Aplasia cutis congenita of the scalp and calvarium: conservative wound management with novel wound dressing materials. Journal of craniofacial surgery. 2007;18(2):427-9.
17. 17. Ross DA, Laurie SW, Coombs CJ et al. Aplasia cutis congenita: failed conservative treatment. Plast Reconstr Surg. 1995;95:124-9.
18. 18. Lewis N, Kolimarala V, Lander A. Conservative management of exomphalos major with silver dressings: are they safe? J Pediatr Surg. 2010;45:2438-9.
19. 19. Lee SL, Beyer TD, Kim SS, Waldhausen JH, Healey PJ, Sawin RS, Ledbetter DJ. Initial nonoperative management and delayed closure for treatment of giant omphaloceles. J Pediat Surg. 2006;41(11):1846-9.
20. 20. Charlesworth P, Ervine E, McCullagh M. Exomphalos major: the Northern Ireland experience. Pediatr Surg Int. 2009;25:77-81.