Atretic cephalocele and encephalocele: A single‐institution clinicopathological study

• Published in: Journal of cutaneous pathology Vol. 50; no. 7; pp. 653 - 660
• Main Authors: Lang‐Orsini, Melanie, Champion, Samantha N., Duhaime, Ann‐Christine, Rapalino, Otto, Hedley‐Whyte, E. Tessa, Louis, David N., Nazarian, Rosalynn M.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.07.2023; Wiley Subscription Services, Inc
• Subjects: atretic cephalocele; cephalocele; Cerebrospinal fluid; Encephalocele; Encephalocele - pathology; epithelial membrane antigen (EMA); Glial fibrillary acidic protein; glial fibrillary acidic protein (GFAP); Humans; Membrane proteins; Meninges; Meninges - pathology; Morbidity; Neural tube defects; Prognosis; Retrospective Studies; S100; Somatostatin; somatostatin receptor subtype 2A (SSTR2A); Somatostatin receptors; encephalocele; epithelial membrane antigen (EMA); S100; atretic cephalocele; somatostatin receptor subtype 2A (SSTR2A); cephalocele; glial fibrillary acidic protein (GFAP)
• ISSN: 0303-6987; 1600-0560; 1600-0560
• DOI: 10.1111/cup.14399

Background Encephaloceles are neural tube defects characterized by herniation of meninges, neural tissue and cerebrospinal fluid, while atretic cephaloceles denote a rudimentary connection to the intracranial space with absence of herniated neural tissue and represent an infrequent dermatopathologic diagnosis. Limited reports of these entities confound the challenge in their histopathologic distinction. Accurate classification is important given associated anomalies and neurologic manifestations that impact prognosis. Methods We describe the clinicopathological and immunohistochemical [glial fibrillary acidic protein (GFAP), S100, epithelial membrane antigen (EMA), and somatostatin receptor subtype 2A (SSTR2A)] features in a retrospective series encountered at a single institution between 1994 and 2020. Results We identified 13 cases classified as atretic cephalocele (n = 11) and encephalocele (n = 2). Hamartomatous changes and multinucleated cells were unique to atretic cephaloceles while myxoid areas were unique to encephaloceles. At least focal staining for SSTRA was seen in all atretic cephaloceles with the majority (87.5%) staining for EMA; negative staining for GFAP and S100 confirmed absence of neural tissue. Encephaloceles were GFAP and S100 positive, and negative for SSTR2 and EMA. Atretic cephaloceles had a favorable prognosis compared to encephaloceles, with severe morbidity present in both encephalocele cases. Conclusion Our study raises awareness of atretic cephalocele and encephalocele among dermatopathologists and reveals a mutually exclusive immunophenotype that facilitates their distinction for prognostication and management.