Reconstrucción palpebral multidisciplinar en el síndrome de Barber-Say: a propósito de un caso / Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report

El síndrome de Barber-Say es una infrecuente displasia producida por la mutación del gen TWIST2 (2q37.3) que codifica una proteína que actúa a nivel epigenético. Presentamos el caso de un niño de 2 días en el que el ectropion, el hipertelorismo, la hipertricosis y demás rasgos dismórficos condujeron al diagnóstico clínico de síndrome de Barber-Say, posteriormente confirmado genéticamente. Alrededor de 20 casos se han publicado sobre este síndrome; sin embargo, en menos de la mitad se describe la técnica para abordar las malformaciones palpebrales, lo que supuso un reto quirúrgico. Nuestra actuación incluyó una tarsorrafia lateral y la toma de injertos de piel de la superficie palmar del antebrazo, área retroauricular y fosa supraclavicular, así como injertos grasos de la superficie interna de ambos muslos para la reconstrucción palpebral. Se trata del primer caso de síndrome de Barber-Say en el que se utilizan injertos supraclaviculares y del antebrazo

Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge. The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms

Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report. / Reconstrucción palpebral multidisciplinar en el síndrome de Barber-Say: a propósito de un caso.

Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge. The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms.

Fibroxantoma atípico conjuntival recurrente en el xeroderma pigmentoso / Recurrent conjunctival atypical fibroxanthoma in Pigmentosum Xeroderma

Caso clínico: Un niño de 7 años con xeroderma pigmentoso presenta una recurrencia de un fibroxantoma atípico conjuntival después de 2 cirugías previas. En esta tercera intervención el paciente es tratado mediante escisión quirúrgica de la tumoración más crioterapia en el lecho. Por el riesgo de recurrencia se asoció en el postoperatorio mitomicina C 0,02% tópica con buen resultado clínico. Discusión: La exéresis quirúrgica con crioterapia y mitomicina C tópica es un tratamiento efectivo en el caso de un fibroxantoma atípico con alto potencial de recurrencia e invasión. Es necesario un seguimiento oftalmológico, así como pediátrico general en estos pacientes y asociar ayudas de apoyo (AU)

Case report: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. Discussion: Surgical exeresis with cryotherapy and topical Mitomycin C is an effective treatment for a case of an atypical fibroxanthoma with a high potential for recurrence and invasion. An ophthalmologic follow-up is required for these patients, as well as general paediatric care and support aids (AU)

Recurrent conjunctival atypical fibroxanthoma in Pigmentosum Xeroderma. / Fibroxantoma atípico conjuntival recurrente en el xeroderma pigmentoso.

CASE REPORT: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. DISCUSSION: Surgical exeresis with cryotherapy and topical Mitomycin C is an effective treatment for a case of an atypical fibroxanthoma with a high potential for recurrence and invasion. An ophthalmologic follow-up is required for these patients, as well as general paediatric care and support aids.

[Multidisciplinary management of an anaplastic sebaceous carcinoma of the eyelid in a 40-year-old woman]. / Abordaje multidisciplinar de un carcinoma sebáceo anaplásico palpebral en una paciente de 40 años.

CASE REPORT: A 40-year-old woman was referred to our department due to an apparent indolent anterior blepharitis with an indurated node in her right upper eyelid, which had persisted for months. It was believed to be a chalazion associated with an ipsilateral swollen pre-aurical lymph node, which had not responded to conventional treatment. The extemporaneous biopsy was reported as sebaceous carcinoma. Complete exeresis was performed on that eyelid and it was reconstructed with a palate mucosa graft and a glabelar flap. A radical neck dissection was performed later, in order to remove the lymph nodes that appeared necrotic in several lymphatic areas. A biopsy was also performed on the lower eyelid, which was reported as positive for carcinomatous infiltration, and therefore it was treated with Curie-therapy. DISCUSSION: The precocity in diagnosing sebaceous carcinomas of the eyelids is the main prognostic factor. The reconstruction in cases with need of complete eyelid exeresis is feasible by means of a palate mucosa graft. In our case, both the anaplastic character and the high aggressiveness of the neoplasm were a therapeutic challenge.

Abordaje multidisciplinar de un carcinoma sebáceo anaplásico palpebral en una paciente de 40 años / Multidisciplinary management of an anaplastic sebaceous carcinoma of the eyelid in a 40-year-old woman

Caso clínico: Mujer de 40 años remitida a nuestro servicio por persistencia durante meses de un cuadro de blefaritis anterior de aspecto indolente con aparición de un nódulo indurado en el párpado superior derecho filiado como chalazion refractario al tratamiento convencional, asociado a adenopatía preauricular ipsilateral. La biopsia extemporánea se informó como carcinoma sebáceo. Procedimos a la exéresis completa de dicho párpado y a su reconstrucción con injerto de mucosa palatina y colgajo glabelar. Posteriormente se practicó un vaciamiento cervical radical por la presencia de adenopatías de aspecto necrótico en diversos territorios linfáticos. Se biopsió el párpado inferior que resultó positivo para infiltración carcinomatosa que se trató mediante braquiterapia. Discusión: La precocidad en el diagnóstico de los carcinomas sebáceos palpebrales es el principal factor pronóstico. La reconstrucción en casos de necesidad de exéresis completa del párpado es factible mediante un injerto de mucosa de paladar. En nuestro caso, el carácter anaplásico y la alta agresividad de la neoplasia han supuesto un reto terapéutico(AU)

Case report: A 40-year-old woman was referred to our department due to an apparent indolent anterior blepharitis with an indurated node in her right upper eyelid, which had persisted for months. It was believed to be a chalazion associated with an ipsilateral swollen pre-aurical lymph node, which had not responded to conventional treatment. The extemporaneous biopsy was reported as sebaceous carcinoma. Complete exeresis was performed on that eyelid and it was reconstructed with a palate mucosa graft and a glabelar flap. A radical neck dissection was performed later, in order to remove the lymph nodes that appeared necrotic in several lymphatic areas. A biopsy was also performed on the lower eyelid, which was reported as positive for carcinomatous infiltration, and therefore it was treated with Curie-therapy.Discussion: The precocity in diagnosing sebaceous carcinomas of the eyelids is the main prognostic factor. The reconstruction in cases with need of complete eyelid exeresis is feasible by means of a palate mucosa graft. In our case, both the anaplastic character and the high aggressiveness of the neoplasm were a therapeutic challenge(AU)

[Blepharitis related to Cetuximab treatment in an advanced colorectal cancer patient]. / Blefaritis asociada al tratamiento con Cetuximab en adenocarcinoma colorrectal avanzado.

CASE REPORT: A 52-year-old woman with advanced colorectal cancer was referred to us for treatment of Cetuximab-related ocular side-effects. DISCUSSION: Cetuximab is a monoclonal antibody that specifically blocks epidermal growth factor receptor activity. It has recently been approved to treat some tumors such as metastatic colorectal cancer and some ORL cancers. Tolerance to it seems to be better than that to the classic chemotherapeutic agents. However it has several side-effects. Cetuximab-related eyelid toxicity has been recently described, though the pathogenesis has not yet been clearly established.

Blefaritis asociada al tratamiento con cetuximab en adenocarcinoma colorrectal avanzado / Blepharitis related to cetuximab treatment in an advanced colorectal cancer patient

Caso clínico: Mujer de 52 años diagnosticada de adenocarcinoma colorrectal, remitida a nuestro servicio por presentar tras iniciar tratamiento con Cetuximab reacción adversa palpebral. Discusión: El Cetuximab es un anticuerpo monoclonal cuya diana es el receptor del factor de crecimiento epidérmico. Ha sido incorporado recientemente al tratamiento de tumores, principalmente el cáncer colorrectal metastático y los tumores del área otorrinolaringológica. Su tolerancia es en principio mejor que la de los agentes quimioterápicos clásicos. Sin embargo, no está exento de efectos secundarios. La toxicidad palpebral asociada a Cetuximab ha sido recientemente descrita, por lo que la patogenia no está establecida claramente

Case report: A 52-year-old woman with advanced colorectal cancer was referred to us for treatment of Cetuximab-related ocular side-effects.Discussion: Cetuximab is a monoclonal antibody that specifically blocks epidermal growth factor receptor activity. It has recently been approved to treat some tumors such as metastatic colorectal cancer and some ORL cancers. Tolerance to it seems to be better than that to the classic chemotherapeutic agents. However, it has several side-effects. Cetuximab-related eyelid toxicity has been recently described, though the pathogenesis has not yet been clearly established

[Pyogenic granuloma following Smart Plug insertion]. / Granuloma piógeno en tapones lagrimales Smart Plug.

CASE REPORT: We report the case of a 65-year-old woman with dry eye syndrome who was referred because of a red mass in the internal left canthus. Three years previously two Smart Plugs had been introduced into both lacrimal punctums of that eye. We diagnosed a pyogenic granuloma and removed it. Two weeks later a new granuloma developed so both the granuloma and the punctal plug were removed. The patient became asymptomatic following this latter procedure. DISCUSSION: A pyogenic granuloma in a Smart Plug punctum is described. This rare complication is generally associated with the use of silicone punctal plugs, being possibly caused by the chronic irritation of the accumulated detritus and necessitating removal of the plug.

Granuloma piógeno en tapones lagrimales Smart Plug / Pyogenic granuloma following smart plug insertion

Caso clínico: Mujer de 65 años, diagnosticada de ojo seco, acude por aparición de tumoración en canto interno con sensación de cuerpo extraño. Tres años antes se le habían implantado tapones lagrimales SmartPlug en ambos puntos lagrimales inferiores. Se apreció un granuloma en el punto lagrimal inferior izquierdo que se extirpó. Dos semanas después presentó una recidiva lo que obligó a extraer el implante quedándose desde entonces asintomática. Discusión: Estamos ante un granuloma piógeno en un implante punctal SMART PLUG, complicación descrita clásicamente con los implantes de silicona, debido posiblemente a la irritación crónica de los detritus acumulados. Esta complicación obliga a extraer los tapones

Case report: We report the case of a 65-year-old woman with dry eye syndrome who was referred because of a red mass in the internal left canthus. Three years previously two Smart Plugs had been introduced into both lacrimal punctums of that eye. We diagnosed a pyogenic granuloma and removed it. Two weeks later a new granuloma developed so both the granuloma and the punctal plug were removed. The patient became asymptomatic following this latter procedure. Discussion: A pyogenic granuloma in a Smart Plug punctum is described. This rare complication is generally associated with the use of silicone punctal plugs, being possibly caused by the chronic irritation of the accumulated detritus and necessitating removal of the plug

[Dacryocystitis caused by Candida lusitaniae]. / Dacriocistitis por Candida Lusitaniae.

CASE REPORT: We report the case of a 60-year-old woman with recurrent dacryocystitis of the right lacrimal sac. She did not recover after medical treatment, nor after dacryocystorhinostomy with canalicular intubation. She also had dacryocystitis on the left side. The material that was obtained during surgery was grown in a culture medium and Candida Lusitaniae was identified as the responsible organism. All symptoms disappeared after topical treatment with amphotericin B and dacryocystorhinostomy. DISCUSSION: Dacryocystitis caused by Candida Lusitaniae is very rare. We should always consider whether Candida Lusitaniae is responsible for the primary infection or is the agent resulting from a superadded infection caused by previous antibiotic therapy.

Dacriocistitis por Candida Lusitaniae / Dacryocystitis caused by Candida Lusitaniae

Caso clínico: Se presenta el caso de una mujer de 60 años con episodios recurrentes de dacriocistitis aguda derecha que no cedían con tratamiento médico ni tras una dacriocistorrinostomía con intubación bicanalicular. Presentó también una dacriocistitis izquierda que requirió una dacriocistorrinostomía. Se tomaron muestras intraoperatorias y en el cultivo apareció Candida Lusitaniae como germen responsable. Tras tratamiento tópico con Anfotericina B, asociado a dacriocistorrinostomía, la clínica desapareció. Discusión: La dacriocistitis por Candida Lusitaniae es muy rara. Cabría preguntarse si Candida Lusitaniae es el germen primario o la dacriocistitis podría ser por sobreinfección fúngica debido al tratamiento antibiótico de las distintas dacriocistitis agudas sufridas

Case report: We report the case of a 60-year-old woman with recurrent dacryocystitis of the right lacrimal sac. She did not recover after medical treatment, nor after dacryocystorhinostomy with canalicular intubation. She also had dacryocystitis on the left side. The material that was obtained during surgery was grown in a culture medium and Candida Lusitaniae was identified as the responsible organism. All symptoms disappeared after topical treatment with amphotericin B and dacryocystorhinostomy. Discussion: Dacryocystitis caused by Candida Lusitaniae is very rare. We should always consider whether Candida Lusitaniae is responsible for the primary infection or is the agent resulting from a superadded infection caused by previous antibiotic therapy

[An optic nerve tumor in von Hippel-Lindau disease, masquerading as a retinal hemangioma]. / Angioma retiniano como síndrome mascarada de tumor del nervio óptico en la enfermedad de von Hippel-Lindau.

CLINICAL CASE: A 35-year-old man with a family history of von Hippel-Lindau disease was diagnosed to have two retinal hemangiomas in the right eye and another in the left eye. The hemangiomas were treated with cryotherapy and laser photocoagulation respectively. Despite apparent good resolution of the retinal lesions, progressive visual loss was observed. An MRI was then performed and showed bilateral tumoral lesions of the optic nerve compatible with a glioma, meningioma or hemangioblastoma. Currently the visual acuity in his right eye is hand movement, and is 0.6 in the left eye. DISCUSSION: The presence of the retinal hemangiomas delayed the diagnosis of an optic nerve tumor in this patient.

Angioma retiniano como síndrome mascarada de tumor del nervio óptico en la enfermedad de von Hippel-Lindau / An optic nerve tumor in von Hippel-Lindau disease, masquerading as a retinal hemangioma

Caso clínico: Varón de 35 años con antecedentesfamiliares de enfermedad de von Hippel-Lindau(VHL) diagnosticado de dos hemangiomas retinianosen ojo derecho (OD) y uno en ojo izquierdo.Las lesiones se trataron con crioterapia en OD yláserterapia en OI. A pesar de una aparente buenaevolución de las lesiones retinianas hubo una progresivadisminución de la AV. Se realizó RM dondese evidenció lesiones tumorales del nervio óptico(NO) bilaterales compatibles con glioma, meningiomao hemangioblastoma. Actualmente: AV(OD): movimiento de manos y AV(OI): 0,6.Discusión: La presencia de los hemangiomas retinianosen este paciente hizo retrasar el diagnósticode un tumor en el NO, infrecuente en esta entidad

Clinical case: A 35-year-old man with a family history ;;of von Hippel-Lindau disease was diagnosed to ;;have two retinal hemangiomas in the right eye and ;;another in the left eye. The hemangiomas were treated ;;with cryotherapy and laser photocoagulation ;;respectively. Despite apparent good resolution of ;;the retinal lesions, progressive visual loss was ;;observed. An MRI was then performed and showed ;;bilateral tumoral lesions of the optic nerve compatible ;;with a glioma, meningioma or hemangioblastoma. ;;Currently the visual acuity in his right eye is ;;hand movement, and is 0.6 in the left eye. ;;Discussion: The presence of the retinal hemangiomas ;;delayed the diagnosis of an optic nerve tumor ;;in this patient

[Terson syndrome associated with a carotid-ophthalmic giant aneurysm]. / Síndrome de Terson asociado a aneurisma carótido-oftálmica gigante.

UNLABELLED: PURPOSE/MATERIAL AND METHOD: A case of a 42 year-old woman presenting headache, vomiting and loss of consciousness of sudden onset. Upon testing right eye presented amaurosis while left eye showed a visual acuity of 20/50. RESULTS/CONCLUSION: Brain angiography showed a right sided giant carotid aneurysm at the ophthalmic artery area. Globe fundus in left eye showed vitreal and intra-retinal hemorrhage appearing in retinal posterior pole and periphery of the retina. Subarachnoidal hemorrhage accompanied by intra-vitreal bleeding is known as Terson's Syndrome. Peculiarities of this clinical case are discussed in this paper.

Multilayer amniotic membrane transplantation in severe ocular graft versus host disease.

PURPOSE: To clarify the usefulness of multilayer amniotic membrane transplantation in an unusual case of calcareous corneal degeneration in a patient with graft-versus-host disease. METHODS: A 20-year-old Caucasian woman had bilateral calcareous corneal degeneration of one year of evolution, secondary to graft-versus-host disease. Treatment for both eyes with topical steroids and antibiotic ointment was not successful. Right eye had a spontaneous corneal perforation, and a three-layer circle amniotic membrane graft was applied to the whole cornea. RESULTS: During a follow-up period of 20 months we observed stability of the corneal epithelium and stroma. The amniotic membrane-covered area showed rapid epithelization, reduced inflammation and suppressed fibrosis formation. CONCLUSIONS: Multilayer amniotic membrane transplantation may be considered an alterantive for reconstructing the ocular surface in a patient with severe dry eyes and calcareous corneal degeneration, even with little perforation.

Central retinal artery occlusion as the initial sign of aortic valve papillary fibroelastoma.

PURPOSE: We describe a central retinal artery occlusion in a young man who was subsequently found to have an aortic valve papillary fibroelastoma. METHODS: Case report with clinical, echocardiographic, and histopathologic observations. RESULTS: The aortic valve papillary fibroelastoma was successfully treated with tumor resection. CONCLUSION: Appropriate investigations in young patients with central retinal artery occlusion should therefore be conducted, including transthoracic and transesophageal echocardiography, to diagnose and treat this tumor, because failure to diagnose this tumor may result in further embolic events, including stroke and sudden death.

Branch retinal vein occlusion associated with the 20210 G-to-A prothrombin variant.

PURPOSE: To describe a case of branch retinal vein occlusion (BRVO) in a patient who tested positive for the 20210 A allele of the prothrombin (PT) gene. METHODS: A 48-year-old man had visual loss in the right eye secondary to BRVO confirmed by ophthalmoscopy and fluorescein angiography. His medical history was not remarkable for common risk factors for retinal occlusive diseases. RESULTS: Laboratory tests for hypercoagulability were positive for PT 20210 A variant. The patient's family tested negative for the PT variant. CONCLUSIONS: Laboratory tests for coagulopathy, including the PT 20210 A variant, should be added to the examination of patients with central or BRVO, especially if most common risk factors for thrombosis have been excluded.