Síndrome de Brooke-Spiegler asociado a carcinoma basocelular: reporte de caso / Brooke-Spiegler syndrome associated with basal cell carcinoma: case report

El síndrome de Brooke-Spiegler (SBS) es una entidad rara, autosómica dominante, que ocurre por mutaciones del gen CYLD, el cual funciona como supresor de tumores. Se presenta el caso de una mujer de 50 años de edad, con historia de aparición de lesiones características de tricoepiteliomas que predominaban en nariz, región interciliar y mentón, que iniciaron desde los 14 años de edad. Desde hace 5 años refiere aumento del tamaño de lesiones en alas nasales, y una lesión en punta nasal de 2 años de evolución. Al realizarse una correlación clínica e histológica, asociada a los antecedentes familiares de la madre y hermano de la paciente, se concluyó que el cuadro clínico era compatible con tricoepitelioma múltiple familiar, una variante especial del SBS, en este caso asociado a carcinoma basocelular, que aunque no es un hallazgo común, se ha visto que se puede presentar en esta enfermedad. El diagnóstico preciso de SBS requiere de una correlación clínico-histológica, y se debe hacer un seguimiento clínico cercano para detectar cambios en las lesiones en piel, que puedan indicar una transformación maligna

Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant condition that occurs due to mutations in the CYLD gene, which functions as a tumor suppressor gene. The case of a 50-year-old woman with a history of characteristic trichoepitheliomas predominantly in the nose, glabella and chin that began at 14 years of age is presented. She reports an increase in the size of the nasal ala lesions for the past 5 years, and the appearance of a new lesion in the nasal tip 2 years ago. When performing a clinical and histological correlation, associated with family history in both the mother and brother, it was concluded that the diagnosis was compatible with multiple familial trichoepithelioma, a special variant of BSS, associated in this case with basal cell carcinoma, that although not a common finding, has been seen to coexist in this disease. The diagnosis of BSS requires a clinical and histological correlation, and a close clinical follow-up must be performed to detect changes in the skin lesions that may indicate malignant transformation

Multiple Trichoepithelioma Improved by Intralesional Bleomycin Injection / 대한피부과학회지

Multiple trichoepithelioma is a benign adnexal neoplasm characterized by the presence of many small papules that appear predominantly on the face. Clinical improvement have been demonstrated after several treatments such as carbon dioxide laser, cryotherapy, dermabrasion, and argon laser. However, these destructive methods have various disadvantages. We report a case of multiple trichoepithelioma treated with an intralesional bleomycin injection. Fewer lesions without scars and cosmetic improvements were observed. Bleomycin is a cytotoxic antitumor antibiotic that can be injected intralesionally by transcutaneous administration and displays excellent results for treating malignancies including skin tumors. We believe that intralesional bleomycin injection is an effective treatment option for this condition, and an easy method to conduct at the outpatient clinic.

Multiple Familial Trichoepitheliomas Associated with Milia / 대한피부과학회지

We present a case of multiple familial trichoepithelioma associated with milia. A 11-year-old girl had symmetrically distributed, multiple, skin-colored papules on her face, some of which were pinhead sized whitish papules. Her mother and relatives had a similar skin lesion on their face. The histological findings of these lesions showed the typical findings of trichoepithelioma and those of milia.

Multiple Trichoepithelioma in a Brother and Sister / 대한피부과학회지

Multiple trichoepithelioma is an autosomal dominant skin disease characterized by the presence of many small papules predominantly on the face. A 12-year-old brother and a 10-year-old sister had small, round, skin-colored papules around the nose for 3~4 years. On history taking, there was no family member with similar skin lesions. Histopathologic study showed typical findings of trichoepithelioma that were basophilic basaloid tumor islands, horn cyst, fibroblastic stroma, and papillary mesenchymal bodies. The lesions were treated with CO2 laser. We experienced and report uncommon and interesting cases of multiple trichoepithelioma in a brother and sister.

Multiple Trichoepithelioma Associated with Milia

We present a case of multiple trichoepithelioma associated with milia. A 12-year-old girl developed symmetrically distributed, numerous, skin-colored papules on her face, some of which were studded with milia-like whitish materials. Histopathological findings of these lesions revealed the typical findings of trichoepitheliomas with overlying milia in the upper dermis.

A Clinicopathological Study of the Multiple Trichoepitheliomas / 대한피부과학회지

BACKGROUND: The diagnostic dilemma in differentiation between multiple and solitary trichoepitheliomas from basal cell carcinoma(BCC) is well documented. Some authors reported that up to 35% of trichoepitheliomas were misdiagnosed initially as BCC, especially the keratinizing variant. OBJECTIVE: The purpose of this study was to review the clinicopathological characteristics of the multiple trichoepitheliomas and to suggest specific findings and useful special staining methods for differentiating from BCC. METHODS: We reviewed 14 cases of multiple trichoepitheliomas from a clinicopathological aspect. We performed H&E, periodic acid Schiff, Giemsa, Fite, and alcian blue staining using the formalin-fixed paraffin-embedded samples of multiple trichoepitheliomas. RESULTS: The average age at onset was 24.7 and 78.6% of the cases showed autosomal dominant inheritance patterns. The sites of frequent involvement were the nasolabial folds and nose, and the average size of the lesions was 4.3 x 4.3 mm. The most important histopathological finding in differentiation was papillary mesenchymal tissue, and this was well observed with the Giemsa stain. Several other findings were also useful in differentiation, such as stellate structures in cystic walls, parakeratosis and eosinophilic necrotic bodies in the cystic walls, primitive hair follicles, epidermal connections, and mast cell infiltration. CONCLUSION: Several staining methods, such as the Giemsa, periodic acid Schiff, Fite, and alcian blue stains, were useful in differentiating the trichoepitheliomas from BCCs.