A Middle-Aged Female With Multiple, Skin-Coloured and Erythematous Lesions Over Face

CLINICAL SCENARIO

A 45-year-old Indian female presented with multiple asymptomatic skin coloured lesions over the face for 10 years. Her mother also had similar lesions. Lesions were gradually progressive in size and number. Mucocutaneous examination showed multiple skin-coloured, well-defined papules predominantly over the central region of the face, including the forehead, nose, cheeks, and chin [Figure 1a]. She also had multiple erythematous, sessile, and pedunculated nodular lesions over the scalp, face (forehead, chin, and preauricular region), and abdomen, with the largest nodule of size 8 cm × 6 cm × 3 cm (scalp) [Figure 1b]. All lesions were firm and non-tender. Dermoscopic examination of the scalp lesion showed a pink-salmon background, unfocused irregular arborising vessels, structureless light pink areas surrounded by brown linear structures, and whitish scales [Figure 2a]. Lesions around the nose showed multiple homogenous brown round structures with few thin arborising vessels on dermoscopic examination [Figure 2b]. The systemic examination was normal. Routine blood investigations, chest X-ray PA view, and ultrasonography of the whole abdomen were unremarkable. Skin biopsy samples were sent twice from both skin-coloured papules and erythematous nodules. Histopathological examination of all samples showed a non-encapsulated tumour composed of closely set tumour lobules separated by thin bands of hyaline material forming mosaic-like masses with a jigsaw-puzzle appearance. Larger cells with a moderate cytoplasm and vesicular nucleus were present in the centre of the tumour island, and small cells with little cytoplasm and compact nuclei were in the periphery, showing palisading [Figures 3a and b]. There were no atypical cells on histopathology. Genetic analysis was not done due to financial constraints.

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Figure 1:

(a) A middle-aged female with multiple skin coloured papules over the central region of the face, with multiple erythematous nodules over the forehead, chin, and preauricular region of the face. (b): Erythematous pedunculated nodule over scalp with multiple sessile nodules on preauricular region of face and isolated lesion over trunk (inset).

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Figure 2:

(a): Polarized dermoscopic examination shows pink-salmon background, linear arborizing vessels (black arrow), white scales (blue arrow), brown linear structures (green arrow), and light pink structureless areas (black star) of nodule over scalp [Dermlite DL3]. (b): Homogenous brown round structures (black arrow) with thin arborizing vessels (green arrow) on polarized dermoscopic examination of papules around the nose [Dermlite DL3]. Magnification: 10x.

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Figure 3:

(a) Histopathology shows islands of basaloid cells (black arrow) surrounded by hyaline eosinophilic sheath (red star) showing characteristic jigsaw-puzzle pattern. Haematoxylin and eosin, 100x, (b) Peripherally arranged cells in palisading pattern with dark basophilic nucleus (black arrow) and moderate enlarged central cells with a big pale nucleus (red arrow). Haematoxylin and eosin, 400x.

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WHAT IS YOUR DIAGNOSIS?

Answer: Familial cylindromatosis

DISCUSSION

The term cylindroma was first used by Billroth in 1856 to describe an orbit tumour with a hyaline appearance, termed because of its cylindrical shape seen on transverse section. There are three forms of cylindromas, including benign cutaneous cylindroma, malignant salivary cylindroma, and malignant cylindroma.^[1] Cutaneous cylindroma is generally a benign apocrine-eccrine tumour occurring predominantly in females, clinically characterised as red-pink firm nodules over the head and neck region. Benign cutaneous cylindroma presents in two distinct clinical forms: solitary and multiple. Solitary cylindromas are sporadic, grow slowly, and mainly develop on the scalp. Multiple cylindromas are inherited as an autosomal dominant pattern and frequently occur on the scalp and rarely on the trunk. Multiple cylindromas are typically observed in familial cylindromatosis or as a component of Brooke-Spiegler syndrome (BSS), autosomal dominant disorders associated with mutations in the CYLD (Cylindromatosis lysine 63 deubiquitinase) gene.^[2] BSS is characterised by the development of multiple cutaneous adnexal tumors, including cylindroma, trichoepithelioma, spiradenoma, and spiradenocylindroma.^[1] Dermoscopic examination of cylindroma shows a salmon-pink background with linear, irregular, thinner arborising vessels, and can be easily differentiated from nodular BCC (basal cell carcinoma), as it shows a reddish background with blue-grey ovoid nests and multiple branching vessels.^[3] Histopathology of cylindroma shows irregular islets of basaloid cells surrounded by a hyaline, eosinophilic sheath. The isles typically show two types of cells: peripheral cells with small dark nuclei and central cells with big pale nuclei.^[1]

Malignant transformation is very rare in cylindromas, which typically occur in patients with multiple cylindromatosis. These lesions show rapid growth from the beginning, with ulceration and pain.^[1]

Trichoepithelioma is a benign adnexal tumour with follicular differentiation, present clinically as solitary or multiple skin-coloured papules or nodules. Multiple familial trichoepitheliomas are primarily located around the nasolabial folds, nose, cheeks, and forehead, and typically develop in childhood or adolescence. Dermoscopic examination shows a whitish background with multiple white round structures.^[1]Histopathological examination shows horn cysts and nests of monomorphic basaloid cells, arranged in a lace-like network and surrounded by abundant fibrous tissue.^[4]

Management of cylindroma primarily includes surgical excision of the tumour, with a high risk of recurrence of approximately 35%. Other treatment options include Mohs micrographic surgery (recurrent cases), ablative laser (CO₂, erbium YAG), radiofrequency ablation, cryotherapy, bleomycin, electrochemotherapy, topical phenol, and topical 5% imiquimod cream.^[5] Our patient was referred to the plastic surgery department for surgical excision of tumours. She was also informed about the inheritance pattern of the disease.

She presented to us with two morphologically different types of lesions with positive family history, so we initially diagnosed it as a case of Brooke-Spiegler syndrome with cylindromas and trichoepitheliomas. Dermoscopic examination findings were also supportive of clinical findings, but histopathological examinations were only suggestive of cylindroma. She might have presented to us as a “Forme fruste” of Brooke-Speigler syndrome, so close follow-up is necessary in such patients.