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Case Report
Malignant pilar cyst in a young woman: Case report and literature review
1 Consultant General Surgeon, Prince Mutaib General Hospital, Department of Surgery, Sakaka Al Jouf Region, Kingdom of Saudi Arabia
2 Specialist General Surgeon, Prince Mutaib General Hospital, Department of Surgery, Sakaka Al Jouf Region, Kingdom of Saudi Arabia
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Ali Ibrahim Ali Hegy
Consultant General Surgeon, Prince Mutaib General Hospital, Department of Surgery, Sakaka Al Jouf Region,
Kingdom of Saudi Arabia
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Article ID: 101453Z01AH2024
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Hegy AIA, El-yakub AI, Sidahmed YT. Malignant pilar cyst in a young woman: Case report and literature review. Int J Case Rep Images 2024;15(1):89–94.ABSTRACT
The patient was a young, 30-year-old woman presenting with a long standing painless scalp lesion with six month history of recent increase in size with associated pain. Clinically the swelling had benign features, therefore excisional biopsy was done. However histology revealed malignant pilar cyst.
Keywords: Malignant pilar cyst, Radiotherapy, Scalp, Wide local excision
Introduction
Skin adnexal tumors (SAT), malignant adnexal tumors (MATS), or primary adnexal cutaneous tumors (PACS) are exceedingly rare neoplasms arising from cells of skin appendages like the hair or nails [1].
The cell of origin could be from either of the four adnexal cells or admixture of the cells. The cells arise from either the apocrine, eccrine, or pilosebaceous unit. The tumors arising from the skin appendages are large diverse and rare, and in particularly those of pilosebaceous units like the malignant pilar cyst are rarer.
The aim is to highlight the features of the tumor, the diagnostic dilemma, and treatment options as no standard treatment is outlined due to few documented cases in literature.
Case Report
Our patient is a 30-year-old woman with a four year history of initially painless scalp swelling with recent rapid increase and pain. She had no symptoms in any of the systems, no medical diseases, no past surgeries.
The significant finding on physical examination was that of a well-circumcised scalp swelling about 8 cm by 4 cm, with regular edge, non-tender, attached to skin with no punctum but fluctuant, no cervical lymph nodes enlargement. An impression of a sebaceous cyst was made and the patient had an excisional biopsy via an elliptical incision over the cyst, which was dissected intact without rapture the specimen subjected to histology revealed:
- Laminated keratin.
- Presence of squamous epithelium lining exhibiting moderate to severe dysplasia.
- Large cells with hyperchromatic mildly pleomorphic nuclei and prominent nucleoli.
- Multiple areas of apparent invasion unto the wall of the cyst.
- Presence of clusters and single cells within the cyst wall.
- Mild chronic inflammatory cell.
- Atypia confined to wall cyst.
Refer to Figure 1, Figure 2, Figure 3, Figure 4, Figure 5 for gross and pathology slides of the malignant pilar cyst.
No involvement of overlying epidermis with the presence of malignant cells. The slides were referred for immunohistochemistry in a higher oncology center.
Results came positive for malignant pilar tumor.
The patient had computed tomography (CT) imaging of head and neck region which was unremarkable. She was advised for chemo and radiotherapy which she declined, had scar excision, no malignancy in scar. Follow-up for surveillance was scheduled after five years, no recurrence.
Discussion
Cutaneous malignancies are the commonest human cancers, particularly in Caucasians [1],[2],[3],[4]. However, the incidence varies geographically, due to the strong environmental association with these skin cancers, such as light, carcinogenic chemicals like arsenic, tobacco smoking, and genetic factors of white race [5],[6],[7].
Skin adnexal tumors (SAT) or malignant adnexal tumors (MAT) or primary adnexal cutaneous tumors (PAC) are exceedingly rare neoplasms. These tumors comprise only 1–2% of all skin malignancies [8].
Skin adnexal tumors have been linked with exposure to ultraviolet radiation and there are recognized syndromes like Muir–Torre syndrome, COWDEM, Brooke–Spiegler syndrome have been associated with these tumors.
The skin or integument is the largest human organ with surface area of 18 m2 and constituting 15% of total body weight.
It serves the functions of protecting the body against ultraviolet light and microbes, maintains fluid and electrolyte balance, subserves metallic as well as immunologic and sensoneural mechanisms in human body.
Embryologically, skin begins to develop from the fifth to seventh weeks in utero. The epidermis is derived from the ectodermal layer while the dermis is derived from the mesoderm.
The skin adnexa, such as hair and nail, are from the ectoderm, histologically they comprise the pilosebaceous and the apocrine and eccrine glands. The skin adnexal tumors, SAT, are from these skin appendages.
The hair is modified keratinized skin appendage, arising from the hair follicle, which is a tubular invagination from the epidermis. The hair shaft has an inner medulla, a middle cortex layer and outer cuticle.
The external root sheath is the outer most epidermal cell layers of hair bulb [9],[10],[11],[12].
Malignant pilar tumors are exceedingly rare, with literature review citing only 50 published case reports [13]. Malignant pilar tumors (MAT) arise either de novo or in a pre-existing proliferating pilar cyst or pilar cyst [14],[15].
Acanthoma, trichophila Melanoacanthoma, invasive hair matrix tumor, invasive pilomatrixoma, and giant hair matrix tumor are benign cystic lesions which typically occur on the scalp of elderly women [16]. They arise from outer root sheath of hair follicle [17]. Histologically, there is diffuse homogenous keratinization with round clear cells.
Proliferating trichilemmal cysts, from which majority of malignant pilar cysts arise, are usually lobulated cystic structures, comprise 30% of all pilar cysts [18],[19].
It is composed of mature keratinocytes lining keratin filled spaces. Among SAT, there are limited literature reviews on the follicular varieties like the malignant pilar cysts, which arise from the pilosebaceous unit, unlike the more common ones from the apocrine and eccrine sweat glands [20].
Literature review stated only about 50 cases reported previously, though rare, clinically they may be confused with the commoner–benign lesions such as pilar cysts or even sebaceous cyst and dismissed as such. However, vigilance is needed in their management as some can be aggressive and prone to locoregional and distant metastatic [21].
Malignant pilar cyst arises from the outer root sheath of the hair follicle, commonly seen in the elderly women between the fifth and sixth decade [16], mostly on the scalp [22].
Suspicious pilar cysts for malignancy are large size, nodulocystic lesions, irregular edges, ulcerative lesions, local lymphadenopathy, and extra-scalp lesions [23].
Also history of a rapid increase in size in a previously dormant lesion, as these lesions usually arise from existing long standing proliferating pilar cyst or de novo [13],[24].
Differential diagnoses include sebaceous cyst, the benign counterpart trichilemmal cyst, well differentiated squamous cell carcinoma can be confused with malignant pilar cyst, as well as most cutaneous lesions should be differentiated, especially those occurring on the scalp in elderly women.
Proper evaluation is necessary, though most of these lesions come to light only after biopsy with definitive histological results. Suspicious cutaneous lesions are subjected to relevant histological analysis after either excisional, trucut, wedge biopsy, or even fine needle aspiration cytology (FNAC) as demonstrated in one publication [25].
The proliferating pilar cyst has cystic spaces with trichilemmal keratinization, squamous cells lining, and peripheral palisading of the basal layer without granular layer. There may be occasional atypia with mitotic figures. This feature makes it difficult to differentiate from the malignant variety [26],[27].
The malignant pilar cyst on the other hand is characterized by the presence of irregularly arranged cells with or without lymphovascular or neural invasion infiltration, cells are horizontally oriented, with atypia, mitosis, and diminished sclerosing stroma and dyskeratosis, presence of palisading of cells, absence of epidermal lesion with eosinophilic malignant membrane. Presence of blank or ghost cells may be seen [28],[29].
Histologically attempts have been made by Ye et al. [30]. To categorize these tumors into three groups to serve as guide for treatment, predict possibility of local recurrence, and lymp-node metastasis as well as distant metastasis.
Group I
Unremarkable histology with no cellular atypia or ploidy or lymphovascular infiltration.
Recurrence at – 0%
Group II
Low grade malignancy
Irregular, locally invasive contours, with extension into the deep dermis. This group is locally aggressive. Recurrence is 15%
Group III
High grade malignancy with irregular contours, atypical mitotic figures, stromal desmoplasia with absence of lobular pattern, necrosis may be present. Recurrence up to 50%.
Histologically malignant pilar cyst may be indistinguishable from squamous cell carcinoma (MPC) usually display trichilemmal keratinization with palisading, presence of hyaline basement membrane, and if arising from a pre-existing pilar cyst thus can be demonstrated [31].
Immunohistochemistry may be employed in difficult circumstances, to exclude other differential diagnosis though there is a vast array of immunohistochemistry makers, for cutaneous malignancies, they are generally non-specific and there is a lot of overlap for positivity amongst these tumors.
Non-specific tumor makers reported to be expressed by the malignant tumors included P53, K1–67 [32],[33],[34],[35].
Antibodies to certain keratins selective for follicular epithelium such as AE3 and AE14 may assist in differentiating the well differentiated squamous cell carcinoma from the malignant pilar tumors, since histology may be confusing [34],[36].
Regardless, if there is a high index of suspicion, based on clinicopathological features, the best management approach is a multidisciplinary one, constituting the relevant surgical specialty as well as, oncologist, dermatologist, radiologist, and members of tumor board where available.
Other researches have proposed use of similar agents and regiment for breast cancer for apocrine tumors, as they save similar cell of origin with the breast.
Treatment
Treatment of these rare lesions is basically similar to skin malignancies and in general to all oncological diseases. A multidisciplinary approach involving the relevant surgical specialties like the ear, nose, throat (ENT), General Surgeons, Dermatologist, Oncologist, Tumor Board, Pathologist, and many more, may be required to participate in the design of the plan.
However surgery is unanimously employed as the mainstay [36],[37]. Wide local excision is done and margins of up to 2 cm suggested [37],[38]. Mohr’s micrographic surgery is offered in certain situations to cosmetically sensitive areas [39],[40],[41],[42].
Radical surgeries like amputations for limb lesions have been suggested to avoid distant metastasis to chest and even brain [43],[44]. The role of sentinel lymph node biopsy is not yet well established [45].
Less invasive procedures like use of laser, cryosurgery, retinoic acid, and topical chemotherapeutic agents have been suggested [46],[47].
Radiotherapy has been widely used and offers some ensuring outcomes in the treatment of skin adnexal tumors as an adjunct [45],[48].
There is a lot of uncertainty in many instances where chemotherapy was used as the results were inconclusive, in terms of response, recurrence free, and increased diseases free survival rates [49].
Some researchers proposed the use of similar chemotherapy used for breast cancer for treatment of apocrine malignant neoplasms due to similarity of cell of origin [37],[50].
Conclusion
The watchword for the management of these rare malignant adnexal tumors is to have high index of suspicion, though rare, misdiagnosis can lead to morbidity and mortality as some are aggressive and in few cases recurrence has been reported after many years. Hence, the need for vigorous follow-up and surveillance, this will also help in enriching our knowledge in the best possible way to cater for these patients.
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SUPPORTING INFORMATION
Author Contributions
Ali Ibrahim Ali Hegy - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Amina Ibrahim El-yakub - Acquisition of data, Analysis of data, Drafting the work, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Yaser Taha Sidahmed - Conception of the work, Design of the work, Drafting the work, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Guarantor of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
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