Cristina Resende

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Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The diVerences between the two groups are not striking, and(More)
Introduction. The IFAP syndrome is a rare X-linked genetic disorder characterized by the triad of follicular ichthyosis, atrichia, and photophobia. Case Report. A three-month-old Caucasian, male patient was observed with noncicatricial universal alopecia and persistent eczema from birth. He had dystrophic nails, spiky follicular hyperkeratosis, and(More)
Syringoma is a benign, adnexal tumor of the eccrine sweat gland ducts. Eruptive syringomas are a rare variant, occurring before or during puberty in most cases. A 57-year-old man was observed in our department, with a 10-year history of multiple brownish papules (1-4mm in diameter), localized on the neck, shoulders, trunk and axillae. The clinical diagnosis(More)
Introduction. The major medical concern with giant congenital melanocytic nevi CMN is high risk of developing cutaneous melanoma, leptomeningeal melanoma, and neurocutaneous melanocytosis. Case Report. A 30-year-old woman with a giant congenital melanocytic nevus covering nearly the entire right thoracodorsal region and multiple disseminated melanocytic(More)
Pilomatricoma is a relatively common benign skin neoplasm originating from the hair follicle matrix cells. β-Catenin is a subunit of the cadherin protein complex. It acts as an intracellular signal transducer that influences cell differentiation and proliferation. This protein was recently involved in the formation of hair follicle-related tumours,(More)
A 70-year-old woman with a recent diagnosis of dermatomyositis (DM) presented to the dermatology department for study of a probably paraneoplastic syndrome. On examination, we observed discrete, indurated, reddish, painful plaques and nodules on her abdomen and both thighs. A cutaneous biopsy from an abdominal nodule, performed as part of the paraneoplastic(More)
Schimmelpenning syndrome (SS) includes an organoid nevus that follows the lines of Blaschko and defects of brain, eyes, bones, or other systems. We report a case of a 3-month old female infant, who presented with several thin plaques, with irregular borders, yellowish color, which had a verrucous appearance, following the lines of Blaschko, mainly occupying(More)
Cannabis arteritis (CA) is a major and underdiagnosed cause of peripheral arterial disease in young patients. A 34-year-old man, daily smoker of 20 cigarettes and two cannabis cigarettes for 14 years, presented with a necrotic plaque of left hallux for 3 weeks. The Doppler ultrasound and angiography were compatible with severe Buerger's disease. Submitted(More)
Kikuchi's disease is a benign, self-limiting disease, whose pathogenesis remains unknown. Patients most often present with cervical lymphadenopathy, sometimes associated with fever and leukopenia. It has been reported that up to 40% of patients with Kikuchi's disease have also cutaneous eruptions, but no specific skin changes have been described. Kikuchi's(More)