Neonatal Med.  2021 Feb;28(1):48-52. 10.5385/nm.2021.28.1.48.

Case of Mental Retardation Associated with Aplasia Cutis Congenita and Skull Defect

• Cho HC
• Hwang JH

• KMID: 2513359
• DOI: http://doi.org/10.5385/nm.2021.28.1.48

Abstract

Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by skin defects involving the epidermis, dermis, subcutaneous tissue, bone, and sometimes dura. It commonly affects the scalp in approximately 70% of cases, but the neck, trunk, and the extremities can also be affected. ACC can occur either as an isolated condition or associated with other anomalies and congenital syndromes, and it can be acquired either genetically or sporadically. Morbidity and mortality are associated with the defects of skull bone, dura, and other multiple anomalies. We herein report the case of a female infant, with a large scalp defect accompanied by a skull defect noted at birth, who developed mental retardation in the preschool years.

Keyword

Ectodermal dysplasia; Scalp dermatoses; Parietal bone; Infants

Figure

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  Figure 1. Clinical image shows a skin defect with a dark, dry eschar in the scalp vertex area 3 days after birth.

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  Figure 2. (A, B) Sagittal head computed tomography 5 days after birth shows marked thinning and loss of cortex (red arrows) of the central parietal bone.

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  Figure 3. Clinical images show the wound covered with granulation tissue on the 40th day (A), the wound show epithelialization at 3 months (B), and complete healing of the skin wound was achieved at 9 months (C).

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