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Year : 2020  |  Volume : 21  |  Issue : 4  |  Page : 337-339

Aplasia cutis congenita with hypocalvaria in a neonate

1 Department of Pediatrics, Advanced Pediatric Centre, Chandigarh, India
2 Department of Radio-diagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Date of Submission04-Mar-2019
Date of Decision14-Apr-2019
Date of Acceptance26-Apr-2020
Date of Web Publication30-Sep-2020

Correspondence Address:
Dr. Suresh Kumar Angurana
Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_39_19

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We report a neonate presenting with a large scalp defect with hypoplasia of underlying frontal and parietal bones. It fits into the description of a severe form of aplasia cutis congenital with hypocalvaria.

Keywords: Aplasia cutis congenital, hypocalvaria, neonate, postneurulation defect

How to cite this article:
Anne RP, Angurana SK, Suthar R, Saxena AK, Sundaram V. Aplasia cutis congenita with hypocalvaria in a neonate. Indian J Paediatr Dermatol 2020;21:337-9

How to cite this URL:
Anne RP, Angurana SK, Suthar R, Saxena AK, Sundaram V. Aplasia cutis congenita with hypocalvaria in a neonate. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Oct 22];21:337-9. Available from: https://www.ijpd.in/text.asp?2020/21/4/337/296858

  Introduction Top

Congenital defects of scalp bones are rarely reported. The causes reported include aplasia cutis congenita (ACC), variants of epidermolysis bullosa, Adams-Oliver syndrome, and various dermal/ectodermal dysplasias.[1] Few cases are also reported in association with the amniotic-band sequence.[2] The challenges in the management of such a neonate include establishing a specific diagnosis, looking for the extent of bony defect, assessing the involvement of the other organs (heart, eye, and brain), preventing meningitis, and allow re-epithelialization. We report a neonate with a severe form of ACC with hypocalvaria.

  Case Report Top

A female newborn baby was referred to our hospital at 6 h of life because of delayed cry at birth, respiratory distress, and an unusual lesion over the scalp. She was born at 34 weeks of gestation (unexplained preterm onset of labor) with a birth weight of 1500 g and an uncomplicated antenatal course. The baby did not cry at birth and needed resuscitation and she was started on intravenous fluids and oxygen by nasal prongs. There was no history of consumption of drugs during the antenatal period. She was born to second gravid mother with a previous male healthy baby.

At admission, she had tachypnea, intercostal retractions, grunting, normal hemodynamic status, blood sugar 78 mg%, and one episode of up-rolling of the eyeballs which lasted for 30 s. Scalp examination revealed a large (7 cm ×7 cm), diamond-shaped blackish fibrous membrane with an absence of overlying skin extending anteroposteriorly from the coronal suture to lambdoid sutures and laterally till squamous sutures on either side [Figure 1]. The margins were irregular. There was no evidence of cerebrospinal fluid (CSF) leak over the lesion. On palpation, the absence of underlying cranial bones could be appreciated. There were no dysmorphic features. The cardiac and ophthalmological examination were normal. Clinical diagnosis of preterm baby with birth asphyxia, sepsis/meningitis, and ACC with hypocalvaria was considered. She was started on indigenous continuous positive airway pressure, phenobarbitone, and intravenous antibiotics. Investigations revealed no evidence of sepsis, CSF examination was normal, and blood and CSF cultures were sterile. No other metabolic abnormalities were identified as a cause for seizures.
Figure 1: Clinical photograph showing large (7 cm × 7 cm), diamond-shaped, and blackish fibrous membrane over the scalp with the absence of overlying skin which extending anteroposteriorly from the coronal suture to lambdoid sutures and laterally till squamous sutures on either side

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For the scalp skin and bony defects, the possibilities considered were trauma during delivery, ACC, Adams-Oliver syndrome, dermal/epidermal dysplasias, and amniotic band sequence. There was no history of instrumentation or prolonged labor, and the scar tissue was so well-formed that an intrapartum event seemed very unlikely. It could be ACC as it is an isolated lesion, with bony defects being reported in severe forms of ACC. Adams-Oliver syndrome is an autosomal dominant condition with limb defects, cardiac, and central nervous system abnormalities. None were clinically appreciable in our index child, and other family members did not have similar lesions. The absence of similar lesions elsewhere with normal-looking skin makes disorders of dermatogenesis such as epidermolysis bullosa, dermal dysplasia, and epidermal dysplasias unlikely. Amniotic band sequence causing antenatal trauma can result in such a defect, but similar lesions were not noted anywhere else. Moreover, scalp skin defects with an underlying bony defect, i.e., hypocalvaria, is described only with ACC and amniotic band sequence, further narrowing our differentials.

Computed tomography with three-dimesnional reconstruction showed a large midline calvarial defect in the superior part of the skull, which communicates with both anterior and posterior fontanelle [Figure 2] and [Figure 3]. The brain parenchyma and venous sinuses were normal. The respiratory distress improved gradually in the next 48 h, she was started on tube feed, and oxygen was tapered and stopped.
Figure 2: Computed tomography of the brain showing a large midline calvarial defect in the superior part of the skull which communicates with both anterior and posterior fontanelle showing the absence of part of frontal and parietal bones. The underlying brain parenchyma is normal

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Figure 3: Computed tomography three-dimesnional reconstruction showing the absence of part of frontal and parietal bones

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Plastic surgery opinion was sought for the definitive management of scalp and bony defect. Conservative management was planned in the initial few months, followed by repair with grafting at a later age.

  Discussion Top

ACC is the congenital absence of skin, predominantly involving the scalp. The pathogenesis is primarily related to antenatal trauma, vascular disruptions, thrombosis, teratogens, and genetic factors.[3] A typical lesion in ACC is usually an absence of overlying skin of variable size (0.5–10 cm), which is noninflammatory, well-circumscribed, and with a membranous or nonmembranous surface. Most defects are small and superficial, but in 15%–20% of cases, there may be the absence of underlying flat bones, especially if lesions are >10 cm.[4] ACC lesions with underlying calvarial defects can be complicated with hemorrhage, infection, sinus venous thrombosis, and occasionally, mortality.[5]

Hypocalvaria is a rare congenital anomaly. It is characterized by the partial absence of flat bones of the skull, associated muscles, and dura mater. Acalvaria (complete absence of skull bones) is the severest form. Hypocalvaria is a postneurulation defect, although some argue that it occurs because of defective primary neurulation resulting in nonclosure of anterior neuropore.[6] Isolated acalvaria or hypocalveria has normal overlying skin. When it is associated with an overlying skin defect (as in index case), it is usually due to extensive scalp ACC (15%–20% of cases may have absent skull bones), or amniotic band sequence.[5],[7]

The ACC lesions are typically sporadic, although genetic inheritance is found in some cases where it may be autosomal dominant or recessive. ACC was classified into seven groups by Frieden in 1986, and this classification is still accepted today.[8] Group 1 is scalp ACC without multiple anomalies, Group 2 is scalp ACC with limb abnormalities, Group 3 is scalp ACC with epidermal and organoid nevi, Group 4 is ACC overlying congenital malformations, Group 5 is ACC with associated fetus papyraceus or placental infarct, Group 6 is ACC with epidermolysis bullosa, Group 7 is ACC localized to extremities without blistering, Group 8 is ACC due to specific teratogens, and Group 9 is ACC associated with malformation syndromes.[8]

The diagnosis of ACC is based on the clinical description. In large lesions, underlying calvarial defects should be suspected and confirmed based on clinicoradiological assessment for the absence of cranial bones. Screening for other complications such as sinus venous thrombosis, bleeding, central nervous system anomalies, and meningitis should be done simultaneously.[8]

The initial management is predominantly conservative, with measures to prevent trauma to the scalp and resultant meningitis. Caretakers should be counseled regarding measures to promote asepsis and re-epithelialization, including the application of vaseline gel or silver sulfadiazine. The defect can be observed at a later age, where spontaneous healing can occur with some growth of underlying bones. Surgical options for correction of the skin defects include split-thickness skin grafts, rotational flaps, and advancement flaps.[9] The bony defects were only occasionally corrected, using parietal bone or split-rib grafts.[4],[10]

  Conclusion Top

ACC can involve extensive areas of the scalp. In such cases, underlying defects of flat bones should be considered, and appropriate evaluation should be done. Management is predominantly conservative, with surgical methods considered at a later age.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

National Organization for Rare Disorders, editor. NORD Guide to Rare Disorders. Philadelphia: Lippincott Williams & Wilkins; 2003. p. 895.  Back to cited text no. 1
Chandran S, Lim MK, Yu VY. Fetal acalvaria with amniotic band syndrome. Arch Dis Child Fetal Neonatal Ed 2000;82:F11-3.  Back to cited text no. 2
Graham JM, Sanchez-Lara PA. Smith's Recognizable Patterns of Human Deformation. 4th ed. Philadelphia, PA: Elsevier; 2016. p. 399.  Back to cited text no. 3
Smartt JM, Kim EM, Tobias AM, Yan AC, Kirschner RE. Aplasia cutis congenita with calvarial defects: A simplified management strategy using acellular dermal matrix. Plast Reconstr Surg 2008;121:1224-9.  Back to cited text no. 4
Burkhead A, Poindexter G, Morrell DS. A case of extensive aplasia cutis congenita with underlying skull defect and central nervous system malformation: Discussion of large skin defects, complications, treatment and outcome. J Perinatol 2009;29:582-4.  Back to cited text no. 5
Evans C, Marton T, Rutter S, Anumba DO, Whitby EH, Cohen MC. Cranial vault defects: The description of three cases that illustrate a spectrum of anomalies. Pediatr Dev Pathol 2009;12:96-102.  Back to cited text no. 6
Benjamin LT, Trowers AB, Schachner LA. Giant aplasia cutis congenita without associated anomalies. Pediatr Dermatol 2004;21:150-3.  Back to cited text no. 7
Frieden IJ. Aplasia cutis congenita: A clinical review and proposal for classification. J Am Acad Dermatol 1986;14:646-60.  Back to cited text no. 8
Liu Y, Qiu L, Fu Y, Tian X, Yuan X, Xiao J, et al. Large defects in aplasia cutis congenita treated by large-sized thin split-thickness skin grafting: Long-term follow-up of 18 patients. Int J Dermatol 2015;54:710-4.  Back to cited text no. 9
Beekmans SJ, Don Griot JP, Mulder JW. Split rib cranioplasty for aplasia cutis congenita and traumatic skull defects: More than 30 years of follow-up. J Craniofac Surg 2007;18:594-7.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3]


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