Occipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4) - A Case Report

Sep 30, 2026

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Dermoid cysts are congenital inclusion lesions from ectodermal entrapment along embryonic fusion lines, and occipital extracranial involvement is especially rare. Cardiofaciocutaneous syndrome type 4 (CFC4), a MAP2K2-related RASopathy, combines distinctive dermatologic and multisystem features. This report describes a 16-day-old preterm female with multiple occipital scalp nodules, alopecia, and dysmorphic traits. Neuroimaging showed well-defined extracranial masses without intracranial extension. Molecular testing confirmed a pathogenic MAP2K2 mutation. With no mass effect, ulceration, or neurologic compromise, conservative management and close follow-up were recommended, with serial stability observed.

LanguageEnglish

CategoryHealthcare

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Pages5

Reading Time13 min

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Introduction

Case History/Examination

Differential Diagnosis, Investigations and Treatment

Clinical Case Reports CASE REPORT OPEN ACCESS Occipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report Mona Alkallabi1 | Khalid Nabil Nagshabandi1 | Naif Ahmed Alshehri1 | Hala Abdullah Almusa2 | Almunthir Saud Alhamed1 1Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia | 2Department of Dermatology and Allergy, Clinical Research Center for Hair and Skin Science, Charité-Universitätsmedizin, Berlin, Germany Correspondence: Naif Ahmed Alshehri ([n.alshehri90@gmail.com](n.alshehri90@gmail.com)) Received: 8 July 2025 | Revised: 5 November 2025 | Accepted: 21 December 2025 Keywords: cardiofaciocutaneous syndrome type 4 | dermoid cyst | epidermoid cyst | genetic syndrome | MAP2K2 mutation | occipital scalp | RASopathies ABSTRACT Dermoid cysts are congenital inclusion lesions that arise from ectodermal entrapment along embryonic fusion lines; occipital extracranial involvement is particularly uncommon. Cardiofaciocutaneous syndrome type 4 (CFC4), a RASopathy caused by pathogenic variants in MAP2K2, presents with characteristic dermatologic, craniofacial, and multisystem findings. We report an occipital extracranial dermoid cyst in a neonate with CFC4, proposing a possible developmental association between these two rare entities. A 16-day-old female infant, born preterm at 28 weeks, presented with multiple firm, skin-colored nodules on the occipital scalp. Physical examination revealed three discrete nodules with overlying alopecia and variable fixation to deeper structures. The initial differential diagnosis included dermoid cyst, epidermoid cyst, osteoma cutis, and calcinosis cutis. Neuroimaging demonstrated well-defined extracranial soft tissue masses without intracranial extension, supporting the diagnosis of an occipital dermoid cyst. Genetic testing was pursued due to dysmorphic features and confirmed a pathogenic MAP2K2 mutation, consistent with CFC4 . In the absence of mass effect, ulceration, or neurologic compromise, conservative management and close clinical follow-up were recommended. Serial evaluations showed stability without progression. This case highlights anatypical occipital extracranial dermoid cyst in the setting of CFC4 and emphasizes two practical points: first, atypical scalp lesions in neonates warrant early imaging to exclude intracranial connection; second, syndromic evaluation (including molecular testing) should be considered when such lesions coexist with dysmorphic or ectodermal findings. Further observation and accumulation of similar cases are needed to explore a potential link between RASopathies and abnormal ectodermal/developmental fusion along the posterior scalp. 1 | Introduction Dermoid cysts are benign lesions lined by squamous epithelium that congenitally arise as a result of failure of the ectoderm to separate from the neural tube [1]. They may occur anywhere in the body, but are most commonly reported in the ovary and scrotal regions. Only about 7% are found in the head and neck region. Within the head and neck, typical sites include the lateral eyebrow and the floor of the mouth, reflecting embryonic fusion lines [2] . Intracranial dermoids are rare and are sometimes associated with overlying cutaneous scalp lesions [3] . Occipital extracranial dermoid cysts in neonates are particularly uncommon [4, 5] . This case study highlights the clinical presentation, diagnostic workup, and management options of an occipital cranial This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. © 2026 The Author(s). Clinical Case Reports published by John Wiley & Sons Ltd. Clinical Case Reports, 2026; 14:e71752 1 of 5 [https://doi.org/10.1002/ccr3.71752](https://doi.org/10.1002/ccr3.71752) Key Clinical Message This case highli

FAQs

What was the main clinical finding in the neonate?

A 16-day-old preterm female presented with three discrete, firm, skin-colored deep-seated nodules on the occipital scalp with overlying alopecia.

How did imaging contribute to the diagnosis?

Neuroimaging (MRI) demonstrated well-defined extracranial soft tissue masses without intracranial extension, supporting an occipital dermoid cyst rather than deeper involvement.

Why was genetic testing performed and what did it confirm?

Genetic testing was pursued due to dysmorphic features suggestive of an underlying syndrome, and it confirmed a pathogenic MAP2K2 mutation consistent with CFC4.

Sep 30, 2026

Uploaded by Himbo