ABSTRACT
Resumo Relato de um caso clínico de Xeroderma Pigmentoso com carcinoma espinocelular de conjuntiva bilateral que apresentou regressão importante das dimensões tumorais com o uso de Interferon alfa-2b tópico. Relato de caso: Paciente feminina com Xeroderma Pigmentoso em estágio avançado, com ausência de pele sadia, tendo sido submetida a cerca de 60 exéreses de lesões de pele malignas. A paciente compareceu com tumoração conjuntival em ambos os olhos, correspondendo a carcinoma espinocelular de conjuntiva e neoplasia intraepitelial de conjuntiva em olho esquerdo. Devido as dificuldades cirúrgicas, alta taxa de recidiva e elevada probabilidade de formação de simbléfaro foi-se iniciado terapêutica com Interferon alfa-2beta 1.000.000 unidades tópico, obtendo-se bons resultados com importante regressão do tamanho da lesão e resolução dos sintomas. Conclusão: O uso tópico de interferon alfa-2beta em neoplasia escamosa de conjuntiva, mostrou-se uma boa opção terapêutica em situações de elevado risco cirúrgico e de complicações pós operatórias.
Abstract Report of a case of xeroderma pigmentosum with squamous cell carcinoma of bilateral conjunctiva that showed a significant regression in tumor size with the use of interferon alfa-2b topic. Case report: Female patient with Xeroderma pigmentosum in an advanced stage, with no healthy skin, having been subjected to about 60 excisions of malignant skin lesions. The patient appeared with conjunctival tumors in both eyes, corresponding to squamous cell carcinoma of the conjunctiva. Due to surgical difficulties, high relapse rate and high probability of symblepharon formation, therapy was started with interferon alpha 2beta 1,000,000 topic units, obtaining good results with a significant decrease in lesion size and resolution of symptoms. Conclusion: Topical use of alpha-interferon in 2beta squamous neoplasia of the conjunctiva proved to be a good therapeutic option for high surgical risk and situations of postoperative complications.
Subject(s)
Humans , Female , Adult , Xeroderma Pigmentosum/complications , Carcinoma in Situ , Carcinoma, Squamous Cell , Conjunctival Neoplasms/diagnosis , Conjunctival Neoplasms/pathology , Conjunctival Neoplasms/drug therapy , Administration, Ophthalmic , Interferon alpha-2/therapeutic useABSTRACT
Xeroderma pigmentosum [XP] is a rare autosomal recessive disease characterised by photosensitivity, pigmentary changes, premature skin ageing and development of various cutaneous and internal malignancies at an early age due to defective nucleotide excision repair following exposure to ultraviolet radiations. Conjunctival malignant melanoma has a very rare association with XP. In this regard, we report a case of a 14-year-old boy suffering from XP with malignant melanoma of conjunctiva
Subject(s)
Humans , Male , Adolescent , Xeroderma Pigmentosum/pathology , Conjunctival Neoplasms , Xeroderma Pigmentosum/complicationsABSTRACT
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder characterized by photosensitivity, cutaneous pigmentary changes, premature skin ageing and development of various cutaneous and internal malignancies at an early age as a result of a defect in nucleotide excision repair following ultraviolet light exposure. Cutaneous angiosarcomas are aggressive neoplasms that are rarely associated with XP. In this communication, we report the case of a 40-year-old male patient with XP who developed an angiosarcoma of the face and discuss the implications of this association in view of recent developments in this field.
Subject(s)
Adult , Hemangiosarcoma/complications , Humans , Male , Skin Neoplasms/complications , Xeroderma Pigmentosum/complicationsABSTRACT
Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder of DNA repair in which the body's normal ability to repair damage caused by ultraviolet light is deficient. This leads to a 1000-fold increased risk of cutaneous and ocular neoplasms. Ocular neoplasms occurring in XP in order of frequency are squamous cell carcinoma, basal cell carcinoma and melanoma. Malignant melanomas occur at an early age in patients with XP. We report a case of XP with massive orbital melanoma in an eight-year-old boy which is unique due to its amelanotic presentation confirmed histopathologically.
Subject(s)
Child , Diagnosis, Differential , Humans , Male , Melanoma, Amelanotic/complications , Ophthalmologic Surgical Procedures/methods , Orbit , Skin Neoplasms/complications , Xeroderma Pigmentosum/complicationsABSTRACT
Squamous cell carcinoma (SCC) of the skin usually occurs in older patients and commonly develops from actinic keratosis. Patients with xeroderma pigmentosum (XP) are highly sensitive to ultraviolet radiation and prone to develop multiple skin malignancies and can acquire SCC at an early age. We report an 18-month-old girl with XP who presented clinically because of a bilateral facial skin mass that was biopsied and found to be SCC. To our knowledge, the case we describe represents the youngest XP patient to have developed facial SCC.
Subject(s)
Carcinoma, Squamous Cell/complications , Facial Neoplasms/complications , Female , Humans , Infant , Xeroderma Pigmentosum/complicationsABSTRACT
O xeroderma pigmentoso é uma genodermatose caracterizada por um reparo inadequado de lesões do DNA, ocasionado pela radiação ultravioleta, com conseqüente desenvolvimento de alterações cutâneas, oftálmicas e neurológicas, além de alta incidência de melanomas em crianças. As alterações clínicas são progressivas e aumentam em número em proporção direta à exposição aos raios UV, obrigando os pacientes a estarem totalmente protegidos de qualquer exposição à luz solar. Os autores apresentam o tratamento clínico e as novas e promissoras abordagens terapêuticas e da geneterapia, bem como a classificação clínica dos grupos genéticos.
Xeroderma pigmentosum is a genodermotosis triggered by the inadequate repair of DNA lesions caused by ultraviolet radiation, with the subsequent development of ophthalmic, neurologic, and skin changes, as well as a high incidence of melanoma cases in children. Clinical changes have a progressive pattern, and skin lesions increase in number in the same proportion as UV exposure, forcing patients to protect themselves from any sunlight radiation. Medical treatment, along with the new and promising therapeutic approaches, including gene therapy, are presented in this paper, as well as the clinical classification of the genetic groups.
Subject(s)
Humans , Male , Female , Xeroderma Pigmentosum/complications , Xeroderma Pigmentosum/diagnosis , Xeroderma Pigmentosum/epidemiology , Xeroderma Pigmentosum/etiology , Xeroderma Pigmentosum/physiopathology , Xeroderma Pigmentosum/genetics , Xeroderma Pigmentosum/therapy , DNA Repair , DNA-Binding Proteins , Keratinocytes , Sunlight/adverse effects , Skin Neoplasms/genetics , Photosensitivity Disorders , Sunscreening Agents/therapeutic use , Ultraviolet Rays/adverse effects , Genetic Therapy/methodsABSTRACT
Xeroderma pigmentosum is a rare autosomal recessive genodermatosis characterized by markedly increased sensitivity to sunlight, and the early development of skin tumours. Four cases of XP with malignancy have been described with a brief review of the literature. The cases have been documented with a view to study the evolution of the disease process and the development of malignancy during the follow up period.
Subject(s)
Adolescent , Child , Eye Neoplasms/etiology , Female , Humans , Male , Skin Neoplasms/etiology , Xeroderma Pigmentosum/complicationsABSTRACT
Out of 34 patients with Xeroderma pigmentosum [XP] followed for ten years, twelve [35%] developed opthalmological complications. These ranged from keratoconjunctivitis to extensive epithelial neoplasia. Various medical and surgical measures were used in the treatment. It is emphasized that the main point in XP is prophylaxis. patients should be followed carefully by a group of specialists including an ophthalmologist
Subject(s)
Humans , Eye Diseases/etiology , Xeroderma Pigmentosum/complications , Eye Diseases/therapyABSTRACT
Xeroderma pigmentosum is a rare, hereditary and fatal disease of the skin. Ocular involvement is known to occur in 80% of cases. A case with typical cutaneous and ocular lesions is reported.