Izelda Maria Carvalho Costa

Tuberous sclerosis complex

Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner. The dermatologist plays an essential role in the history of the disease, since skin manifestations represent the most prevalent clinical features, enabling early diagnosis and intervention in its natural course. This article aims to inform the scientific community about advances made in the study of genetics and molecular biology. Recent findings regarding stimulation of tumor growth have been changing the history of this condition, making therapeutic trials with topical and systemic drugs possible. Knowledge of these topics enables better management of the patients affected, since tissue replacement by tumors can result in significant morbidity and mortality.

Paraneoplastic cutaneous manifestations: concepts and updates*

The skin often signals systemic changes. Some neoplastic diseases that affect internal organs may trigger several cutaneous manifestations. Although these dermatoses are relatively unusual, the recognition of some typical paraneoplastic dermatoses may lead to the early diagnosis of a neoplasm and determine a better prognosis. In this review article, we discuss the paraneoplastic cutaneous manifestations strongly associated with neoplasms, which include acanthosis nigricans maligna, tripe palms, erythema gyratum repens, Bazex syndrome, acquired hypertrichosis lanuginosa, necrolytic migratory erythema, Leser-Trélat sign and paraneoplastic pemphigus. We also review the clinical manifestations of each condition and include updated knowledge on disease pathogenesis.

Polymethylmethacrylate Facial Implant: A Successful Personal Experience in Brazil for More Than 9 Years

BACKGROUND Synthetic permanent fillers for soft‐tissue augmentation have acquired an important role in cosmetic improvement of patients with facial aging, facial atrophic scars, or lipoatrophy leading to facial defects. Polymethylmethacrylate (PMMA) is a filler introduced to the market as one option for long‐lasting treatment. PMMA microspheres are purified, and the particles are larger than 20 μm. The product used as a filler has proven to be safe, effective, and long lasting. OBJECTIVE To determine the efficacy and safety of PMMA as a facial filler. METHODS Two hundred sixty‐six patients (aged 17–72; 154 women) received injections of PMMA to correct facial defects. The number of sessions ranged from one to four, with an interval of 40 to 60 days between applications. RESULTS Seventy‐nine subjects (30%) had facial atrophy related to HIV infection, 159 (60%) had photoaging signs with deep wrinkles and atrophic areas, 25 (9%) had depressive scars from acne process, and three (1%) had residual depressions from lupus profundus. The results were satisfactory and long lasting. Side effects were transient. No late complications were observed. CONCLUSION PMMA used for the treatment of atrophy, depressions, and facial wrinkles has been shown to be effective, long lasting, safe, and gratifying to patients and physicians. The authors have indicated no significant interest with commercial supporters.

Lucio's phenomenon: a case report and review of the literature

A 34-year-old white Brazilian female was admitted to the Dermatology Infirmary of the University Hospital of BrasiliaDF, Brazil presenting dark skin lesions over the upper and lower extremities. The patient reported that 12 years prior to consultation she started specific therapy for lepromatous leprosy (LL), but stopped it after the first month of treatment. On physical examination, diffuse skin infiltration was observed, especially on the face, with bilateral madarosis and necrotic lesions on both cheeks and on the earlobes. Saddle nose was noted (Fig. 1). Necrotic, dark, irregular-shaped lesions were also seen over the upper and lower extremities. Some of the lesions were bullous, coalescent and deeply ulcerated (Fig. 2). Body temperature was normal. Laboratory findings were anemia, leukopenia and increased erythrocyte sedimentation rate (ESR). A 4-mm punch biopsy was performed on an ulcerated lesion on a lower extremity. This showed incipient epidermal

Nephrogenic systemic fibrosis: concepts and perspectives

Nephrogenic systemic fibrosis is a chronic, progressive condition that develops in some patients with renal impairment after exposure to gadolinium-based contrast agents used in magnetic resonance imaging. Thickening of the skin is typical, usually affecting the extremities. Visceral organs can also be affected. The diagnosis of the disease requires careful clinicopathological correlation. Treatment aims at restoring renal function, which is associated with delayed progression and, eventually, remission of skin changes. Reduction and prevention of nephrogenic systemic fibrosis cases are based on limiting the use of gadolinium-based contrast agents in patients with kidney disorders (especially in patients with advanced renal failure at stages 4 and 5), and restricting their use to situations in which they are essential to diagnosis/follow-up. Other than limiting exposure to gadolinium based contrast agents, no effective preventive methods have been reported. Due to increased awareness about the disease among radiologists and nephrologists, the incidence of nephrogenic systemic fibrosis is declining.

Localized scleroderma in children: clinical, diagnostic and therapeutic aspects

Localized scleroderma or morphea affects school-aged children, is usually self-limited and a disfiguring condition. Several etiopathogenic factors, investigations and treatment options are described. This article reviews the recent literature and discusses its clinical applications.

Lipoatrofia facial associada ao HIV/AIDS: do advento aosconhecimentos atuais

The advent of AIDS has brought new challenges to Dermatology. Antiretroviral therapy dramatically changed the morbidity and mortality associated with HIV / AIDS, but contributed to the emergence of other new situations that require adequate approach by the dermatologist. The HIV / AIDS Associated Lipodystrophy Syndrome is multifactorial in origin, but it is strongly associated with the use of antiretroviral drugs. It includes changes in body fat distribution, with or without metabolic changes. The loss of facial fat, called facial lipoatrophy, is one of the most stigmatizing signs of the syndrome. This condition, often revealing of the disease, brought back the stigma of AIDS. It is necessary that the specialists working with patients with HIV / AIDS identify these changes and seek treatment options, amongst which stands out the implant with polymethylmethacrylate, which is available for the treatment of HIV / AIDS facial lipoatrophy in the Brazilian Public Health System.

Dermatite atópica: uma doença cutânea ou uma doença sistêmica? A procura de respostas na história da dermatologia

Atopic dermatitis is an inflammatory disease associated to atopy, which is a predisposition to produce an IgE response to environmental allergens and considered one of the manifestations of the atopic diseases, including asthma and allergic rhinitis. Atopic dermatitis is characterized by recurrent eczema flares, associated to pruritus, affecting a genetically disrupted skin surface, inducing, by immunological phenomena, the onset of inflammation. It is a multifactorial disease, with an emphasis on systemic and allergic alterations or skin manifestations, according to different concepts. The definition of atopic dermatitis is important, since its management may vary according to these two different points of view. Modern authors have extensively discussed these concepts, though with no conclusion as to its nature - systemic or cutaneous disease. The search for concepts about the disease, since its first descriptions, associated to the evolution of the dermatology rationale through history, may help understand the origin of these doubts. A historical analysis demonstrates that the currently accepted concepts of atopic dermatitis have their background from different researchers, who, at different historical moments, described the disease, and a great part of our beliefs about atopic dermatitis are related to these ancient writings.

The use of the Er:YAG 2940nm laser associated with amorolfine lacquer in the treatment of onychomycosis.

Onychomycosis is a common disease, accounting for up to 50% of all ungual pathologies. We have been developing a clinical trial (ClinicalTrials.gov: NCT01528813) using a 2940nm Er:YAG laser to fractionally ablate human nails in vivo, aiming to increase topical amorolfine lacquer delivery to the nail unit, increasing the efficacy of topical treatment of distal and lateral subungual onychomycosis. Partial results have shown an increase in areas of nail plate free of disease. We believe that ablative lasers can increase the efficacy of topical onychomycosis treatment.

Cutaneous mosaicisms: concepts, patterns and classifications

A mosaic is an organism composed of two or more genetically distinct cell populations derived from a genetically homogeneous zygote. Cutaneous mosaicisms are the clinical expressions of these disorders. The main event which allows the existence of mosaicism is a genetic mutation, either structural or functional. Cutaneous mosaicisms usually manifest by specific patterns on the skin and the archetypic pattern is the system of Blaschko lines, but others include checkerboard, phylloid, large patches without midline separation and lateralization. Since 1901, when Blaschko lines were first described, the study of mosasicism has helped to elucidate the behavior of numerous genetic diseases, generating therapeutic perspectives for these pathologies, including the promising gene therapy.