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Background: Syringocystadenoma papilliferum (SP) is a rare, benign hamartomatous adnexal neoplasm arising from apocrine or eccrine sweat glands. It often presents congenitally or around puberty and is predominantly localized to the scalp and face. Malignant transformation, though uncommon, has been reported. Case Presentation: We report the case of an 18-year-old male who presented with three swellings at the nape of the neck, present since birth, with sudden enlargement and pain in one lesion over the past month and a half. Clinical examination revealed firm, non-indurated nodules without lymphadenopathy. Ultrasonography initially suggested an infected sebaceous cyst. The patient underwent wide local excision under local anaesthesia. Histopathological analysis demonstrated characteristic features of SP, including cystically dilated invaginations connected to the epidermis and papillary projections lined by bilayered epithelium with decapitation secretion. Immunohistochemistry confirmed the diagnosis with positive CEA and EMA in luminal cells and SMA and p63 in abluminal cells. Postoperative recovery was uneventful with no recurrence at one-year follow-up. Conclusion: This case highlights an unusual presentation of multiple SP lesions at the nape of the neck, clinically mimicking an infected sebaceous cyst. Histopathology remains the gold standard for diagnosis. Early recognition and complete excision are essential to prevent recurrence and rule out malignant transformation.
Syringocystadenoma papilliferum (SP) can be defined as benign hamartomatous adnexal tumour which arises from the apocrine or the eccrine sweat glands and is very rare[1] , around 50% of the cases present at birth or can be seen around puberty (15-30% of cases)[2] . Approximately 730 cases have been reported in the literature till today[3] . It typically presents as slow developing, non-specific, smooth, skin-colored to pink papule, verruca or nodule, which may be exudative. It may also be seen as hairless plaques, smooth or raised, usually less than 4 cm in diameter, skin-colored to brown and is rarely pigmented. In the majority of cases, it is asymptomatic, but it may grow progressively and has been occasionally associated with pruritus, pain, and/or bleeding. Three clinical types have been described: the plaque type, the linear type and the solitary nodular type. The plaque type usually presents as an alopecia plaque on the scalp which may increase in size at puberty and often transforms to nodular or verrucous lesions. The linear type consists of multiple pink to reddish, firm papules or umbilicated nodules, 1-10 mm in diameter, and is extremely rare. The solitary type includes dome-shaped, pedunculated nodules, 5-10 mm in diameter, with a predilection for the trunk, shoulder and axillae. It occasionally co-exists with other tumours such as basal cell carcinomas and verrucous carcinomas[4]
. However, in rare cases, SP may convert into a malignant lesion[5] . It occurs as a single or multiple lesion most commonly in the scalp and face. It rarely occurs on the nipple, breast, genitalia, eyelids, and extremities [5,6,7] .
The etiology of SP is not very clear. It might arise from the pluripotent cells with the potential to exhibit either apocrine or eccrine lineage, although apocrine differentiation is more common. The pathogenesis of SP remains unclear although, both in sporadic cases and lesions arising in nevus sebaceous, the human papillomavirus (HPV) DNA and mutations in the RAS/mitogen-activated protein kinase signaling pathway have been detected. BRAF V600E mutation or activating mutations in HRAS (or in one case KRAS) have been reported in sporadic forms.
Diagnosis is suspected on clinical presentation of non-distinctive lesions and confirmed on biopsy showing the characteristic histology. Immunohistochemically, the tumor cells stains positively for carcinoembryonic antigen. Dermatoscopy is not diagnostic.
The differential diagnosis is broad, requiring histological confirmation of cases. The main diagnostic issue is the distinction of SP from hidradenoma papilliferum. Other conditions to be considered include basal cell carcinoma, cutaneous lymphoma, factitious dermatitis, viral warts, subcutaneous fungal infection, linear verrucous nevus, pyogenic granuloma, warty dyskeratoma, inverted follicular keratosis, as well as eccrine nevus, nevus comedonicus, cylindroma, and basaloid follicular hamartoma.
Treatment involves complete surgical excision. However, recurrence is common. Carbon dioxide laser treatment can be useful for lesions in anatomic areas not favorable for excision and grafting. SCAP has also been successfully treated with Mohs micrograhic surgery. This condition is mostly benign but extensive lesions may have an impact on quality of life and transformation to malignancy cannot be ruled out.
A 18 years old male presented with the complaint of three swellings at the nape of the neck, which were present since birth [Fig1]. Though the swelling was present since birth there was a sudden increase in size over the last month and a half. Patient complained of increase in the size of the 3rd swelling and was painful to touch. It was just below the hairline, there was no growth of hair over the swelling. There was minimal discharge associated with swelling for a month and a half. The skin over the swelling changed from his normal skin tone to a pale pink colour. It grew from approximately 3mm to approximately 15 mm in size. However there was no change in the other two synchronous swellings. On palpation, the base was not indurated and the lesion was not fixed to the deeper structures, slight tenderness was present over the swelling. There was no regional lymphadenopathy. No other skin lesions were noted. Past medical history, family history, and review of systems was unremarkable. An ultrasonography of the local region was performed which suggested a small, well defined, heteroechoic predominantly hypoechoic collection with internal echogenic contents measuring approximately 1cm X 0.4cm X 0.8 cm with approximate volume of less than 0.5 cc noted in the
The Operative Procedures: The patient underwent wide local excision and biopsy of the lesion under local anaesthesia. The lesion was excised completely with a normal margin of around 1 cm and with a depth up to the subcutaneous plane. He was followed up for 1 month, he showed no recurrence and he had a good cosmetic recovery.
Histopathological Examination: Gross findings: Skin covered firm tissue piece measuring 2 x1x 0.5 cm which shows multiple nodules, largest measuring 1x1x0.6 cm with hypo pigmented areas.
Microscopy Findings: The HPE report showed multiple dermal basal tumours covered by hyperplastic stratified squamous epithelium showing marked hyperkeratosis with focal papillomatosis. The dermal tumours comprised of cystically –dilated invagination showing prominent connections to the overlying epidermis. The cystic spaces were filled with papillary projections lined by bilayered epithelium. The luminal layer showed tall columnar cells with evidence of decapitation secretions. The abluminal layer consisted of small cuboidal cells with high nuclear cytoplasmic ratio with scant cytoplasm. The stroma of the papillae shows several plasma cells along with scattered lymphocytes and neutrophils. The deeper dermis appears histologically unremarkable.
Syringocystadenoma papilliferum is a rare benign tumour which is believed to be derived from the apocrine or the eccrine sweat glands. In this case report, the patient had it since birth but he presented to hospital due to recent onset increase in size of the lesion and with pain on palpating the swelling. Its association with a hamartomas lesion of a follicular or a sebaceous origin is common as in this case it was initially diagnosed to be infected sebaceous cyst[8]. In about one-third of the case, syringocystadenoma papilliferum is associated with a nevus sebaceous. Multiple tumours of adnexal origin (such as trichoblastomas, apocrine adenomas, hidradenoma papilliferum, porona follicular, trichilemmoma etc.) have been reported to arise on a sebaceous nevus, among which Syringocystadenoma papilliferum may be included [9]. Basal Cell Carcinoma (BCC) development has been reported in up to 10% of the cases [10]. In the majority of the cases, there is a coexistent nevus sebaceous. Squamous cell carcinoma (SCC) may also develop, but much less frequently. Till now, only two cases of verrucous carcinoma in conjunction with Syringocystadenoma papilliferum, have been published [11]. Ductal carcinomas which arise from Syringocystadenoma papilliferum have been reported as well [12]. An ulceration or a rapid enlargement is indicative of a malignant transformation. Syringocystadenocarcinoma papilliferum is a malignant counterpart of syringocystadenoma papilliferum [13]. The diagnosis is clinically suspected and histologically confirmed. Due to the risk of a malignant change, a prophylactic surgical excision, followed by a detailed histological examination, is the treatment of choice. Chemotherapy or Radiation therapy can also achieve good tumor control, in cases of inoperable disease or in patients who refuse surgery.[14]
Syringocystadenoma papilliferum is a rare neoplasm, and even though it is called as a childhood tumour as it usually appears at birth, during infancy or around the time of puberty, it rarely appears in adults. The nodular variety has a predilection for the trunk, but here, it presented on the scalp. In the present case, it was clinically diagnosed at first as infected sebaceous cyst at the nape of the neck, but later, it was histologically confirmed as syringocystadenoma papilliferum. Such a presentation of this tumor may generate multiple differential diagnoses and it must be sent for a histopathological examination.
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