Multiple Familial Trichoepithelioma with Varied Malignancies.

Sir,

Trichoepithelioma (TE) is a benign adnexal tumor that originates from hair follicles and may be solitary or multiple, familial or non-familial.Brooke and Fordyce fi rst described inherited multiple TEs in 1892, as an autosomal dominant (AD) disorder beginning in childhood and progresses slowly, also known as Brook-Fordyce disease. Malignant transformation of such lesions is quite rare. Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) have recently been associated with mutations in the CYLD gene.[1]

A 48-year-old male presented with multiple skin colored eruptions over face, neck, and chest. These lesions started at the age of 15 years over face which progressively increased in number and size over face, neck, chest, and back. Patient also complained of ulcerated growth over left cheek since 2 years with rapid progression since last 6 months and swelling over right side of upper back since 5 months. Similar history of asymptomatic skin colored lesions over face was present in his elder sister. On examination, there were multiple firm, nontender, shiny, nonumbillicated, nonulcerated skin colored papules and few nodules of varying sizes of 0.5--1 cm over face, neck, upper chest, scalp, upper back, and arms [Figure 1a-d]. One large nontender, ill-defined ulcer measuring about 3 × 2 cm with irregular raised border with necrotic base was present over left parotid region [Figure 2a-b]. Single round non-translucent, mobile swelling of size around 2 × 3 cm was present over of right upper back [Figure 3a]. Rest of cutaneous and systemic examinations was normal. Ultrasonography of left parotid region revealed normal parotid gland with ill defined, hyperechoic mass of size 5.5 × 4.3 cm with foci of calcifications and multiple hypoechoic lesions suggestive of necrosis of neoplastic etiology. Chest radiograph revealed ill-defi ned radio-opacity in apex and upper zone of right hemithorax and in lower zone and bony erosions in overlying shafts of right first, second, and third ribs possibly neoplastic etiology [Figure 3b]. FNAC from swelling over back revealed sheets and clusters of malignant squamous cells against keratonecrotic background suggestive of squamous cell carcinomas (SCC). FNAC done from ulcerated growth over left cheek region revealed normal parotid gland and group and nests of basaloid cells with nuclear pleomorphism. Deep punch biopsy from papule over forehead revealed islands of basaloid cells with peripheral palisading, fibrous stroma separating them from normal collagen, cyst formation, and abortive hair papilla, which were suggestive of TE [Figure 4a-b] and from margin of ulcer over left parotid region revealed islands of basaloid cells with scant cytoplasm, hyperchromatic, minimal peripheral palisading with dense lymphocytic infiltrates, suggestive of basal cell carcinoma [Figure 4c-d]. CT thorax revealed well-defined moderately heterogeneously enhancing pleural-based lesion along posterior segment right upper lobe with bony erosions, mediastinal lymph nodes, and pulmonary nodules, possibly primary pleural malignant neoplasm. CT brain revealed well-defined peripherally enhanced oval lesion in the left parietal region, left cerebellar hemisphere, and left gangliocapsular region suggestive of metastasis. Based on clinical features, radiological investigations, and histopathology, a diagnosis of MFT with BCC over left parotid region and right sided squamous cell lung carcinoma and brain metastasis was made. He was referred to surgery and radiation therapy department for further management of multiple malignancies and brain metastasis.

Figure 1

(a-d) Multiple, shiny, nonumbillicated, nonulcerated skin colored papules and few nodules of varying sizes of 0.5-1 cm present over face, neck, upper chest, scalp

Figure 2

(a and b) One large ill-defined ulcer measuring about 3 × 2 cm with irregular raised border, necrotic base present over left parotid region

Figure 3

(a and b) Chest radiograph revealed ill-defined radio-opacity in apex and upper zone of right hemithorax and in lower zone, possibly neoplastic etiology

Figure 4

(a-d) Biopsy from papule over forehead revealed islands of basaloid cells with peripheral palisading, fibrous stroma separating them from normal collagen, cyst formation, and abortive hair papilla, suggestive of trichoepithelioma (a and b) and from margin of ulcer over left parotid region revealed islands of basaloid cells with scant cytoplasm, hyperchromatic, minimal peripheral palisading with dense lymphocytic infiltrates, suggestive of basal cell carcinoma. (c and d)

Malignant transformation of TE to BCC is rare which denotes loss of heterozygosity in CLYD gene in the 9p21 and 9q22 chromosomal regions.[2] Ma et al. reported features of MFT coexisting with SCC over scalp.[3] Long-term follow-up should be needed in patients with MFT, in view of malignant transformation to BCC and recurrence of BCC. We report this rare case of MFT associated with BCC, squamous cell lung carcinoma with brain metastasis. This association can be explained on the basis of CYLD mutation. However, in our case, genetic mutation analysis and immunohistochemisty were not done due to lack of financial resources.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.