Two cases of atretic cephalocele, and histological evaluation of skin appendages in the surrounding skin

Abstract

Atretic cephalocele is a small skin-covered lesion, usually located at or near the mid-line of the scalp. Histologically, it is composed of syncytial cells expressing neurone-specific enolase and epithelial membrane antigen. The syncytial cells form capillary-like structures *(pseudovascular areas) and collagenic fibrosis with densely packed collagen bundles (fibrous areas). Such findings suggest that the atretic cephalocele is a mild form of cephalocele, with its pathogenesis lying in the spectrum of neural tube closure abnormalities. However, few descriptions of abnormalities of the skin overlying and surrounding atretic cephalocele are available. We report two cases of atretic cephalocele that showed hamartomatous change in the surrounding cutaneous appendages. These findings suggest that atretic cephalocele is associated with abnormalities not only of the neural tube, but also of the surrounding skin.

Prenatal Diagnosis of Atretic Occipital Cephalocele: A Case Report

“…A body of evidence for the embryological hypothesis is that atretic cephaloceles consist of the remnant nuchal blebs that may be related with the transient overdistension of the rhombencephalic vesicle. Since skin and the neural tissues are derived from the ectoderm, associated skin abnormalities and concomitant cranial or spinal malformations point out a common etiology [4,5]. Radiological follow-up in this case suggested that true intrauterine regression of an encephalocele might be the underlying cause.…”

“…When the existence of familial cases, amniocentesis should be performed in such cases to determine the underlying genetic factors. Moreover, environmental factors such as vitamin A hypervitaminosis, teratogens, X-ray, folic acid antagonists, trypan blue, triamcinolone, parental malnutrition and diabetes have been proposed as possible mechanisms for atretic cephaloceles [5,6].…”

Atretic Cephalocele With Hypertrichosis

“…4 Various hypotheses have explained the development of atretic cephaloceles: it represents a neural crest remnant, regression of a meningocele in utero, injury of multipotential mesenchymal cells, and either failure of the neural tube to close or reopening of the neural tube after closure. [4][5][6] There is evidence of developmental defects in skin appendages including sweat and sebaceous glands, arrector pili muscles, and hair follicles in and around the skin overlying the cephalocele, suggesting that there is a developmental abnormality of not only the CNS but also the cutaneous tissue. 5 Typical radiographic findings include a cystic lesion with underlying defect in the skull.…”

“…[4][5][6] There is evidence of developmental defects in skin appendages including sweat and sebaceous glands, arrector pili muscles, and hair follicles in and around the skin overlying the cephalocele, suggesting that there is a developmental abnormality of not only the CNS but also the cutaneous tissue. 5 Typical radiographic findings include a cystic lesion with underlying defect in the skull. A vertical positioning of the straight sinus also has been demonstrated to be a consistent finding that can aid in diagnosis.…”

Atretic cephalocele and encephalocele: A single‐institution clinicopathological study

“…1 Information regarding atretic cephaloceles in the literature is limited, with the largest series to date containing 16 patients. 8 In particular, only a limited number of cases with histopathologic correlation have been reported, especially with regards to the dermatopathology literature. As a result, the distinction between atretic cephalocele and other types of cephaloceles, such as encephalocele, may be challenging, and the lack of awareness may result in misclassification of these lesions.…”