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Immuno-osseous dysplasia is character-ised 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)
Scuba diving is associated with a 90% reduction in effective weight and with the loss of a weight-bearing effect on joints. These conditions are very similar to the continuous weightlessness that occurs in spaceflight and bed-rest, which are clearly associated with significant bone mass loss. Here, we studied the bone mineral density (BMD) of 66(More)
To cite: Resende CIP, Pereira T, Ribeiro J, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2014-207472 DESCRIPTION A 42-year-old woman who had a urostomy formed at the age of 6 years for a neurogenic bladder due to a myelomeningocele presented to our department with painful white deposits of hard consistency on(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)
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)
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)
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)
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)
Bleomycin is a chemotherapeutic agent used in the treatment of different tumours. It has several side effects, including flagellate hyperpigmentation, which is a unique and a well-documented side effect of bleomycin therapy. We report a case of a 23-year-old woman with a personal history of ovarian dysgerminoma, who developed flagellate hyperpigmentation on(More)
Cutaneous collagenous vasculopathy is a rare cutaneous microangiopathy of unknown aetiology with only 27 cases reported to date. It is characterised clinically by generalised cutaneous telangiectasias and microscopically by dilation and marked thickening of the walls of superficial dermal blood vessels. Differential diagnosis should be performed with other(More)