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Dermatopathology of Cutaneous Cystic Lesions: a Practical Review with Diagnostic Clues and Pitfalls

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Dermatopathology of Cutaneous Cystic Lesions: a Practical Review with Diagnostic Clues and Pitfalls CME ARTICLE Dermatopathology of Cutaneous Cystic Lesions: A Practical Review With Diagnostic Clues and Pitfalls Noelia Pérez-Muñoz, MD,* Mar Llamas-Velasco, PhD,† Gonzalo Castillo-Capponi, MD,‡ Daniel Morgado-Carrasco, MD,§ Maribel Iglesias-Sancho, MD,¶ Miguel-Ángel Carrasco-García, PhD,║ and María-Teresa Fernández-Figueras, PhD** Conclusions: Knowledge of the histopathology of cystic lesions Background: Cystic lesions are common in the daily practice of contributes to their correct diagnosis, improving the management of dermatologists and dermatopathologists, and in most cases, patients. a straightforward diagnosis can be done. Yet, some variants and situations may cause diagnostic problems or carry prognostic and/or Key Words: cyst, pseudocyst, histopathology, classification, review systemic implications. (Am J Dermatopathol 2019;41:783–793) Objective: To review the histopathological features of the most frequent cystic lesions, either true cysts or pseudocysts, and provide LEARNING OBJECTIVES some clues and pitfalls to bear in mind for troublesome situations After participating in this activity, physicians should be such as solid–cystic tumors; uncommon variants; incidental findings; better able to: artifactual, reactive, or infectious cavities; cysts as a warning of 1. Identify the correct histopathological diagnosis of most systemic and hereditary diseases; and malignant cystic tumors, either cystic lesions, either true cysts or pseudocysts. primary or metastatic. 2. Distinguish cysts with malignant features and/or their pos- Methods: The histopathological diagnostic criteria of most cystic sible association to hereditary or systemic diseases. lesions and their potential caveats will be discussed, offering some 3. Explain indications of the histopathological diagnosis of diagnostic clues. these lesions. Results: Cystic lesions of the skin can primarily be classified into true cysts and pseudocysts. The most frequent pseudocysts are sinus pilonidalis and mucin-filled cavities. True cysts can be divided INTRODUCTION according to their epithelial origin or differentiation into epidermal/ Cystic lesions are very frequent in daily practice. Some pilar cysts, cysts from glandular appendages, and from embryonic of them are true cysts, lined by benign epithelium and filled remnants. Diagnostic dilemmas and possible pitfalls in cystic lesions with liquid or semisolid materials, whereas pseudocysts are are reviewed, offering some keys to solve them. cavities devoid of any epithelial lining, such as fistulae, or malignant cystic neoplasms.1 This brief overview constitutes a practical approach to From the *Faculty, Department of Pathology, Hospital Universitari General de the diagnosis of the most common cutaneous cysts providing Catalunya-Quirónsalud, Universitat Internacional de Catalunya, Sant Cugat some helpful clues and underlining the most important del Vallès, Barcelona, Spain; †Faculty, Department of Dermatology, Hos- caveats. pital de la Princesa, Madrid, Spain; ‡Resident, Department of Dermatology, Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona, Spain; §Resident, Department of Dermatology, Hospital Clinic de Barcelona, Bar- celona, Spain; ¶Faculty, Department of Dermatology, Hospital Universitari PSEUDOCYSTS Sagrat Cor-Quirónsalud, Barcelona, Spain; ║Director of Department, Many pseudocysts are secondary to inflammatory pro- Department of Pathology, Hospital Universitari General de Catalunya-Quir- ónsalud, Universitat Internacional de Catalunya, Sant Cugat del Vallès, cesses, as is the case of the sinus pilonidalis in the sacral Barcelona, Spain; and **Head of Surgical Pathology, Department of region. The wall consists of granulation tissue containing Pathology, Hospital Universitari General de Catalunya-Quirónsalud, Uni- numerous multinucleated giant cells, often related to hair versitat Internacional de Catalunya, Barcelona, Spain. shafts. The presence of hair shafts is a constant finding in the All authors, faculty, and staff in a position to control the content of this CME initial stage of sinus pilonidalis and can be highlighted using activity and their spouses/life partners (if any) have disclosed that they have no financial relationships with, or financial interests in, any polarization lens, but they can be absent in specimens from commercial organizations relevant to this educational activity. relapses2 (Fig. 1A). Recurrences are better characterized by Correspondence: María-Teresa Fernández-Figueras, PhD, Head of Surgical the presence of draining sinuses, similar to suppurative hidra- Pathology, Department of Pathology, Hospital Universitari General de denitis. Any kind of fistulae, if persistent, can undergo squa- Catalunya-Quirónsalud, Universitat Internacional de Catalunya, c/Pedro i Pons, 1 CP 08190, Sant Cugat del Vallès, Barcelona, Spain (e-mail: mous metaplasia and generate true cysts (Fig. 1B). maiteffi[email protected]). Aggressive squamous cell carcinomas (SCCs) may come Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved. forth those cysts.3 Am J Dermatopathol Volume 41, Number 11, November 2019 www.amjdermatopathology.com | 783 Copyright © 2019 Wolters Kluwer Health, Inc. Unauthorized reproduction of this article is prohibited. Pérez-Muñoz et al Am J Dermatopathol Volume 41, Number 11, November 2019 FIGURE 1. A, Scanning magnifica- tion of a long-standing sinus piloni- dalis showing an epidermal invagination surrounded by granu- lation tissue and extensive fibrosis (at this stage, the presence of hair shafts is not mandatory to make the diagnosis). B, Squamous meta- plastic epithelium in a relapsed sinus pilonidalis. C, Synovial cyst riveted by histiocytes, confirmed by CD68 staining (insert). D, Synovial meta- plasia secondary to surgical suture. Mucin-filled pseudocysts are relatively frequent. The cysts from glandular appendages, and cysts from embryonic early stage of digital mucoid cyst consists of an interstitial remnants. Hybrid combinations of the former categories can accumulation of mucin, intermixed with collagen fibers. also occur. Gradually the mucinous material accumulates, giving rise to a cavity of viscous content. In the advanced stage, digital Epidermal/Pilar Cysts mucoid cyst is usually a mucin-filled cavity closely related to This group comprises, by far, the most frequently the basal layer of the acral epidermis, which tends to be very excised lesions, having many names traditionally given to thin and hyperkeratotic.4 A similar progression from intersti- them, of which sebaceous cyst, the most widely used by tial deposition to pseudocyst formation occurs in ganglion physicians outside the field of dermatology, includes infun- cysts leading to the development of the so-called synovial dibular cysts, acral epidermal cysts, milium cysts, vellus cysts or cutaneous metaplastic synovial cysts. Despite their eruptive cysts, pigmented terminal hair cysts, trichilemmal name, their wall is usually riveted by a layer of CD68-positive cysts, proliferating trichilemmal cysts, and pilomatricomas, histiocytes, which are reminiscent of synovial cells5 (Fig. 1C). all of them lined by keratinizing squamous epithelium. Another site-specific pseudocystic lesion is the oral mucocele Infundibular cysts, also known as follicular cysts that often appears in the lip but can also grow elsewhere in the infundibular type, are the most common cystic lesions in oral cavity. This lesion must be considered particularly in adults, often developed in the cheeks, neck, or on the back of pediatric patients, but cases in adults are also frequent. His- patients with previous acne. They can occasionally be tology reveals a mucin-filled cavity with abundant mucus- multiple, especially in the scrotal area,12 sometimes associ- filled macrophages. Minor salivary glands, the origin of this ated with scrotal calcinosis,13,14 although it is not clear process, can often be identified at the periphery of the whether the 2 processes are pathogenically related. They are lesion.6,7 characterized by an epidermal-type keratinization with a gran- Organized hematomas, recanalization of thrombi, in- ular layer and an even transition into loosely packed central jected materials, and foreign bodies can also originate keratin, as in the follicular infundibulum (Fig. 2A). Because pseudocysts.8 Occasionally, pseudocysts engulfing foreign of their follicular origin, a small open pore connecting to the bodies may undergo synovial metaplasia in their walls similar surface is often present. Widening of this pore, as a result of to capsular synovial metaplasia of breast implants9,10 (Fig. inflammation, is probably the origin of the dilated pore of 1D). Winer. Its hyperplastic epithelium, originally interpreted as a trichoepithelioma, is probably induced by the peripheral scar.15–17 CYSTS Acral epidermal cysts are usually located in the soles, Cysts can be classified into several ways,11 but the most probably secondary to traumatic epidermal inclusion, so that simple approach is to divide them into 3 categories according they can be considered real epidermal inclusion cysts. Their to their histological features or origin: epidermal/pilar cysts, inner aspect is covered by squamous epithelium with 784 | www.amjdermatopathology.com Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved. Copyright © 2019 Wolters Kluwer Health, Inc. Unauthorized reproduction of this article is prohibited. Am J Dermatopathol Volume 41, Number 11, November 2019 Dermatopathology of Cutaneous Cystic Lesions FIGURE 2. A, Scrotal infundibular cyst containing
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