Filipa da Encarnação Roque Diamantino

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resistant rickets type IIA, a compound heterozygote for mutations in the Vitamin D receptor gene (VDR) in which the phenotype of atrichia with papular lesions was identical to that seen in patients carrying mutations in the HR gene. It is hypothesized that the VDR and HR genes, which are both zinc-finger proteins, may be in the same genetic pathway that(More)
Treatment with tumor necrosis factor alpha (TNF-α) inhibitors may have favourable effects on the lipid profile. This is the first study to assess the impact of etanercept on the lipid profile in patients with moderate-to-severe plaque psoriasis. To investigate the effect of etanercept on the lipid profile after 24 weeks of treatment in patients with(More)
Incontinentia pigmenti (IP) is a rare multisystem disease, X linked dominant disorder. As all X linked dominant diseases, it is usually male-lethal. Female newborn admitted to the neonatal intensive care unit on the first day of life was diagnosed as having probable herpetic infection with vesicular skin lesions distributed on upper right limb and inferior(More)
Psoriasis is an immune-mediated chronic, inflammatory disease. Due to the chronic nature of the disease, patients suffer from substantial psychological and financial burdens, thus adding to a significantly impaired quality of life. Current understanding of the pathophysiology of this condition has produced very encouraging new medical developments. The(More)
The emergence of certain skin conditions belonging to the group of mucocutaneous paraneoplastic syndromes may indicate the future appearance of a previously unknown malignancy. Sweet's Syndrome and relapsing polychondritis are included in this group. Sweet's Syndrome and relapsing polychondritis are very rarely found together in the same patient. This dual(More)
Porokeratosis ptychotropica is a rare variant of porokeratosis that is classically located on the gluteal and perianal regions, seldom extending to the genitalia. The authors report an atypical presentation of porokeratosis ptychotropica and discuss the use of dermoscopy in evaluating this dermatosis. Dermoscopic findings, although not specific to this(More)
INTRODUCTION Some cutaneous lesions might be the first clinical manifestation of diseases with systemic involvement. This article aims to review the relevant dermatological semiology for the concerning diseases with neurological involvement in childhood. MATERIAL AND METHODS Review of the related literature indexed to MedLine published in the last twelve(More)
Primary cutaneous follicle center lymphoma (PCFCL) is characterized by a proliferation of follicle center cells in the skin. A definitive diagnosis is frequently delayed because of difficulties in interpretation of the histopathologic findings. It has an excellent prognosis with a 5-year survival over 95% and its risk of transformation has not been(More)