|LETTER TO EDITOR
|Year : 2022 | Volume
| Issue : 6 | Page : 224-225
Facial trichoepitheliomas revealing the rare Brooke–Spiegler syndrome
F Gaudiello, Luca Costanzo, Gabriella Fabbrocini, Angela Patri
Department of Clinical Medicine and Surgery, Section of Dermatology, University of Naples Federico II, Napoli, Italy
|Date of Submission||14-Nov-2021|
|Date of Decision||22-Mar-2022|
|Date of Acceptance||14-Jun-2022|
|Date of Web Publication||31-Jan-2023|
Department of Clinical Medicine and Surgery, Section of Dermatology, University of Naples Federico II, Via Pansini 5, Naples
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Gaudiello F, Costanzo L, Fabbrocini G, Patri A. Facial trichoepitheliomas revealing the rare Brooke–Spiegler syndrome. Int J Trichol 2022;14:224-5
Brooke–Spiegler syndrome (BSS) is a rare autosomal dominant disease, characterized by numerous adnexal neoplasms mostly localized on the face, scalp, and neck. Although benign in most instances, BSS can be associated with severe complications. Here, we report the case of a patient presenting with multiple facial trichoepitheliomas revealing such rare syndrome.
A 35-year-old female presented with multiple, asymptomatic, flesh-colored papular lesions, mostly located on the forehead, cheeks' parotid region, and nasolabial folds, measuring 0.5–2 mm in diameter [Figure 1]a. The lesions had first appeared at 15 years of age and had gradually grown in number and size. The past medical history revealed surgical removal of a spiradenoma of the back [Figure 1]b and a basal cell carcinoma of the nuchal region, 12 and 8 years earlier, respectively. Family history unveiled the presence of scalp nodules affecting the patient's maternal grandmother that had never been biopsied [Figure 2]. The patient denied a personal or family history of internal malignant neoplasms. Thus, we suspected the diagnosis of BSS, supported by the histological evaluation of a facial lesion, which corresponded to a trichoepithelioma. Our diagnosis was later confirmed by a genetic linkage study on three members of the family (maternal grandmother included) which detected the responsible gene locus, the cylindromatosis gene (CYLD1).
|Figure 1: Firm, dome-shaped, flesh-colored-to-pink papules most prominently located on the forehead, cheeks' parotid region, and nasolabial folds. In the box the lesion that has been biopsied (a). A spiradenoma of the back, surgically removed 12 years earlier (b)|
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|Figure 2: Photographs of patient's maternal grandmother, showing multiple nodules, with a smooth and teleangiectatic surface, partially confluent, localized on the scalp, forehead, and ears|
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In Brooke–Spiegler syndrome, the number of adnexal neoplasm ovaries from 10 to 100.,, Histologically, the lesions most commonly correspond to spiradenoma, cylindroma, spiradenocylindroma, and trichoepithelioma. The tumors usually appear at pubertal age, increasing in size and number with years. Indeed, our patient presented with a long history of facial trichoepitheliomas. They are benign neoplasms, most commonly derived from the follicle bulb.,, Interestingly, the patient provided photographs of the maternal grandmother, showing multiple nodules, localized on the scalp, forehead, and ears [Figure 2]. They resembled the cylindromas described as “turban tumor” when affecting the scalp.
In addition to cases like ours in which two or more types of adnexal tumors are simultaneously present, other phenotypic variations of BSS have been identified. The only development of trichoepitheliomas characterizes the multiple familial trichoepithelioma, while the familial cylindromatosis contemplates exclusively the presence of cylindromas., Moreover, rare cases present with only spiradenomas or spiradenocylindromas. A tumor suppressor gene, CYLD1, on 16q12-q13, is altered in BSS. Possible complications include blindness and deafness due to the wide involvement of eyelids and external auditory meatus by neoplasms. Furthermore, pain, hemorrhage, infections, and chronic anemia have been reported. Rapid enlargement, ulceration, and bleeding of pre-existing lesions are signs suggestive for a malignant transformation. There is 5%–10% risk of development of basal cell carcinoma over the lesions. Actually, no accepted standards of treatment are available for BSS. Our patient was treated with Erbium: YAG laser, on three sessions under local anesthetic. Treatments were repeated at 3-month intervals with favorable cosmetic outcome.
Tumors developing in the context of BSS can cause practical and aesthetic discomfort, with the possibility of several complications. Thus, physicians should be aware of such syndrome's complexity, performing a careful and regular follow-up of the patients affected.
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
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]