RESUMO
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) polymorphisms are associated with thrombophilia and vasculopathy that may result in cutaneous ulceration. Pyoderma gangrenosum (PG) is a clinical diagnosis that may be made following exclusion of alternate causes of ulceration, including vascular inflammatory or occlusive disease, infection, and malignant neoplasm. OBSERVATIONS: We describe 2 patients with MTHFR polymorphisms discovered during hypercoagulable evaluation for cutaneous ulcerations on the lower extremities. Both patients showed a rapid improvement following treatment with oral vitamin supplementation and local wound care. One patient developed several subsequent ulcers when he decided to discontinue his therapy, and following reinitiation of therapy, the new ulcerations healed. The treatment was tolerated well without any adverse effects. CONCLUSIONS: MTHFR polymorphisms should be part of a comprehensive laboratory evaluation during hypercoagulable workup. Vitamin supplementation with folic acid (B(9)), pyridoxine hydrochloride (B(6)), and cyanocobalamin (B(12)) may result in healing of cutaneous ulcerations in some patients with MTHFR mutations.
Assuntos
Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético , Úlcera Cutânea/tratamento farmacológico , Úlcera Cutânea/genética , Complexo Vitamínico B/uso terapêutico , Adulto , Criança , Ácido Fólico/uso terapêutico , Humanos , Masculino , Pioderma Gangrenoso/patologia , Piridoxina/uso terapêutico , Úlcera Cutânea/patologia , Trombofilia/diagnóstico , Resultado do Tratamento , Vitamina B 12/uso terapêuticoRESUMO
BACKGROUND: Atypical fibroxanthoma (AFX) is a low-grade sarcoma usually occurring on sun-damaged skin of the head and neck in elderly patients. Metastatic disease has been reported very rarely. The potential aggressiveness of AFX is controversial. OBSERVATIONS: We describe herein a patient who developed metastatic disease in cervical lymph nodes. Our patient was an 87-year-old man with a 7-week history of a rapidly growing AFX presenting as a 1.5-cm sessile nodule on his right mandible. Two months following excision, the patient developed cervical lymphadenopathy. Histopathologic analysis of the cervical lymph nodes revealed spindle-cell tumors with histologic characteristics identical to those of the primary AFX, and the tumors were immunonegative for cytokeratin MNF-116 and S-100. In addition, we review and analyze cases from the literature and articles related to immunohistochemical stains used to diagnose AFX. CONCLUSIONS: Atypical fibroxanthoma is a diagnosis of exclusion, and only a small number of metastatic AFX cases have been reported. A review of the literature pertaining to immunohistochemical stains suggests the potential benefit of use of CD10, procollagen I, CD99, CD117, p63, and LN-2 in differentiating AFX from other spindle-cell tumors. The metastatic potential of AFX may not be fully appreciated, and clinicians should be reminded of its potential aggressive behavior.
