ABSTRACT
BACKGROUND AND OBJECTIVES: Melanoma differentiation-associated gene 5 antibody (anti-MDA5) in dermatomyositis (DM) is associated with rapidly progressive interstitial lung disease and poor prognosis. Early diagnosis is key to improving the prognosis of these patients. The aim was to confirm cutaneous characteristics in patients with anti-MDA5 dermatomyositis and to explore new diagnostic markers for the presence of anti-MDA5 (anti-MDA5+ ). PATIENTS AND METHODS: A multicenter cross-sectional retrospective cohort study of 124 patients diagnosed with DM, of which 37 were anti-MDA5+ . Demographic data, laboratory data, and clinical manifestations were collected. RESULTS: Anti-MDA5+ DM is characterized by a distinct mucocutaneous phenotype that includes oral lesions, alopecia, mechanic's hands, palmar and dorsal papules, palmar erythema, vasculopathy, and skin ulceration. We found vasculopathy and digit tip involvement very frequently in anti-MDA5+ patients (p <0.001), being a diagnostic marker of anti-MDA5+ (OR, 12.355; 95% CI 2.850-79.263; p = 0.012 and OR, 7.447; 95% CI 2.103-46.718; p = 0.004, respectively). The presence of ulcers deserves special mention, especially in anti-MDA5+ patients, because in our cohort, up to 97% of the anti-MDA5+ patients had ulcers. CONCLUSIONS: In patients with suspected DM with digit tip involvement or vasculopathy, the presence of anti-MDA5 antibodies must be ruled out, as it may be a clinical predictor.
Subject(s)
Dermatomyositis , Humans , Retrospective Studies , Interferon-Induced Helicase, IFIH1 , Ulcer , Cross-Sectional Studies , Autoantibodies , PrognosisABSTRACT
BACKGROUND: Metastatic eccrine porocarcinoma (EP) is an uncommon, malignant, and potentially lethal neoplasm that arises from the eccrine sweat glands. OBJECTIVE: To present the 5.6-year follow-up study of a male patient with metastatic EP, highlighting the widespread cutaneous involvement and the response to the treatment carried out. METHODS: We describe the evolution of the tumor and the combined therapy carried out and review the treatments employed in previously reported cases, comparing them with ours. RESULTS: The patient developed multiple cutaneous and regional lymph node metastases 15 months after surgical excision of the primary tumor. He was treated with prophylactic lymphadenectomy, radiotherapy, and oral isotretinoin, subsequently substituted by tegafur. We have not found evidence of distant metastases after a 5.6-year follow-up. CONCLUSIONS: The optimum treatment for metastatic EP is not standardized, and the results obtained to date were generally poor. In this context, we consider it of interest to highlight the response of our patient to the therapeutic regime employed, which may be advantageous in future cases of this rare tumor.
Subject(s)
Acrospiroma/pathology , Acrospiroma/therapy , Sweat Gland Neoplasms/pathology , Sweat Gland Neoplasms/therapy , Aged , Combined Modality Therapy , Follow-Up Studies , Humans , Male , Neoplasm Metastasis , Time FactorsABSTRACT
Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency disease clinically characterized by Candida infection of the skin, mucous membranes, or nails that is refractory to traditional treatment. We present a typical case of a 13-year-old boy with an onset of illness at 1 month of age in the form of oral thrush. At age 2-3 years the patient began to have external otitis caused by Candida albicans and recurrent upper respiratory tract infections. Analytical studies detected iron deficiency and circulating antigliadin antibodies. Immunologic findings excluded other possible immunodeficiencies. Significant clinical improvement was produced by therapy with orally administered fluconazole. The significance of antigliadin antibodies is discussed.
