Malignant transformation of a conjunctival keratoacanthoma requiring enucleation.

PURPOSE: We report a rare case of rapid transformation of a conjunctival keratoacanthoma (KA) into a highly aggressive squamous cell carcinoma requiring enucleation. To our knowledge, this is the second such case reported in the literature. METHODS: Case report. RESULTS: A 73-year-old man presented with a recurrent conjunctival lesion in the right eye. A slit lamp examination revealed a hyperkeratotic lesion in the limbar conjunctiva adhered to deep planes but with no ocular involvement. An incisional biopsy was performed because an area of scleromalacia was observed underlying the lesion. Histological findings were consistent with conjunctival KA. One week later, a raised lesion was observed invading the anterior chamber. Histological examination of another excisional biopsy specimen indicated conjunctival squamous cell carcinoma. The right eye was enucleated. Histological analysis confirmed intraocular tumor invasion. Complete clinical remission was observed over one year of follow up. CONCLUSIONS: Although conjunctival keratoacanthoma is normally benign, it is important to correctly differentiate between KA and squamous cell carcinoma, and closely monitor the eye after surgery because of the rare possibility of recurrence or conversion to squamous cell carcinoma. Immunohistochemistry could help in the diagnosis and management of dubious cases.

Resolución de un melanoma conjuntival con interferón tópico alfa 2b en un paciente con intolerancia a la mitomicina C / Resolution of conjunctival melanoma with topical interferon alpha 2 b in a patient with mitomycin C intolerance

OBJETIVO: Describir la resolución clínica e histológica de un caso de melanoma conjuntival irresecable con interferón tópico alfa 2b (INF-alfa-2b) en un paciente con intolerancia a la mitomicina C (MMC). CASO CLÍNICO: El melanoma conjuntival es un tumor raro pero potencialmente peligroso para la función visual y la vida del paciente. En caso de lesiones múltiples o cuando no es posible la escisión quirúrgica, se ha descrito la quimioterapia con combinación tópica de MMC e INF-alfa2b como terapia de primera línea. Comunicamos el caso de una mujer de 77 años con melanoma in situ conjuntival multifocal que mostró intolerancia al tratamiento inicial con MMC y se cambió a terapia a largo plazo con INF-alfa2b con un buen resultado. CONCLUSIONES: Cuando la MMC tópica administrada como tratamiento quimioterapéutico para la melanosis primaria adquirida con atipia o melanoma in situ no se tolera bien, el cambio a INF-alfa2b parece ser una buena opción. Este enfoque podría reemplazar el tratamiento quirúrgico de los tumores pigmentados, especialmente los más grandes, con beneficios potenciales que incluyen una menor dependencia de los márgenes quirúrgicos. Este caso sugiere la necesidad de estudios prospectivos diseñados para examinar el papel de INF-alfa2b como tratamiento primario para tumores conjuntivales densamente pigmentados que evitan la toxicidad de la superficie ocular causada por MMC

OBJECTIVE: To describe the clinical and histological resolution of a case of an inexcisable conjunctival melanoma using topical interferon alpha 2b (INFalfa2b) in a patient with mitomycin C (MMC) intolerance. CASE REPORT: Conjunctival melanoma is a rare, but potentially sight- and life-threatening, tumour. In cases of multiple lesions, or when surgical excision is not possible, topical combination chemotherapy with MMC and INFalfa2b has been described as first line therapy. The case is presented of a 77 year-old woman with a multifocal conjunctival in situ melanoma, who was intolerant to initial treatment with MMC and was switched to long-term INFalfa2b therapy, with a good outcome. CONCLUSIONS: When topical MMC is given as chemotherapy treatment for primary acquired melanosis with atypia or in situ melanoma is not well tolerated, switching to INFalfa2b seems to be a good option. This approach could replace surgical management of pigmented tumours, especially the larger ones, with potential benefits that include less dependence on surgical margins. This report prompts a need for prospective studies designed to examine the role of INFalfa2b as primary treatment for heavily pigmented conjunctival tumours avoiding the ocular surface toxicity caused by MMC

Resolution of conjunctival melanoma with topical interferon alpha 2b in a patient with mitomycin C intolerance. / Resolución de un melanoma conjuntival con interferón tópico alfa 2b en un paciente con intolerancia a la mitomicina C.

OBJECTIVE: To describe the clinical and histological resolution of a case of an inexcisable conjunctival melanoma using topical interferon alpha 2b (INFα2b) in a patient with mitomycin C (MMC) intolerance. CASE REPORT: Conjunctival melanoma is a rare, but potentially sight- and life-threatening, tumour. In cases of multiple lesions, or when surgical excision is not possible, topical combination chemotherapy with MMC and INFα2b has been described as first line therapy. The case is presented of a 77 year-old woman with a multifocal conjunctival in situ melanoma, who was intolerant to initial treatment with MMC and was switched to long-term INFα2b therapy, with a good outcome. CONCLUSIONS: When topical MMC is given as chemotherapy treatment for primary acquired melanosis with atypia or in situ melanoma is not well tolerated, switching to INFα2b seems to be a good option. This approach could replace surgical management of pigmented tumours, especially the larger ones, with potential benefits that include less dependence on surgical margins. This report prompts a need for prospective studies designed to examine the role of INFα2b as primary treatment for heavily pigmented conjunctival tumours avoiding the ocular surface toxicity caused by MMC.

WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI).

Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the impairment of at least one major ectodermal-derived structure and who had a previous negative molecular screen for ectodysplasin signaling pathway genes ED1, EDAR, and EDARADD. Fourteen WNT10A mutations were identified in 33 subjects (24.8%), 11 of which were novel variants. The phenotype was evaluated through a detailed clinical examination of the major and minor ectodermal-derived structures. This study is the first to show that, after ED1, WNT10A is the second molecular candidate for EDI in a large Italian Caucasian population. The study confirmed that Phe228Ile is the most frequent WNT10A variant in Caucasian populations, and that WNT10A mutations are associated with large variability in EDI.