Condutas na ritidoplastia e apontamentos histológicos na pele da face do paciente pós-bariátrica / Rhytidoplasty practices and histological notes for the facial skin of post-bariatric patients

Introdução: O número de pacientes classificados com sobrepeso ou obesos e, com isso, dos pacientes pós-bariátricas vem aumentando, gerando uma demanda por ritidoplastias neste perfil de público. O objetivo é expor a rotina e táticas cirúrgicas em um hospital de ensino, o perfil destes pacientes, além de um comparativo superficial histológico da pele, tecido celular subcutâneo e SMAS, entre os pacientes pós e não pós-bariátrica. Métodos: Foi realizado revisão de dados do centro cirúrgico e de prontuário entre os anos de 2012 e 2016 em um hospital público na cidade de Goiânia-GO, com levantamento de 32 casos. Resultados: A tática de ritidoplastia utilizada nos pacientes pós-bariátrica não apresenta grandes diferenças entre a utilizada nos pacientes não pós-bariátrica. A análise histopatológica das amostras colhidas evidenciou diferenças marcantes entre os pacientes pós e não pós-bariátrica. Conclusão: Percebeu-se que a técnica operatória na ritidoplastia do paciente pós-bariátrica sustentou detalhes específicos, com resultado cirúrgico pós-operatório satisfatório, uma pele de pior qualidade histológica, com complicações perioperatórias dentro do esperado e com necessidade de maiores estudos para avaliar durabilidade do procedimento.

Introduction: The number of patients classified as overweight or obese has resulted in an increased number of post-bariatric patients, generating a demand for rhytidoplasty in this public profile. The objective is to expose the routine and surgical tactics in a teaching hospital, patient profiles, subcutaneous cellular tissue, and the superficial musculoaponeurotic system are compared between post-bariatric and non-post-bariatric patients, as well as histological superficial comparison of the skin. Methods: A review of the data of 32 cases treated in 2012­2016 was conducted in a public hospital in Goiânia-GO. Results: The tactics of rhytidoplasty used in post-bariatric patients do not differ significantly from those used in nonpost- bariatric patients. A histopathological analysis of the collected samples showed marked differences between post-bariatric and non-post-bariatric patients. Conclusion: The surgical technique of rhytidoplasty of post-bariatric patients sustained specific details with satisfactory postoperative surgical results, skin with worse histological quality, perioperative complications within the expected range, and the need for further studies to assess the procedure's durability

Cutaneous disorders characterized by elastolysis or loss of elastic tissue.

Along with collagen, elastic fibers are integral components of cutaneous connective tissue. A decrease in elastic fibers or loss thereof has been described in a number of clinically distinct skin diseases, both hereditary and acquired. In disorders associated with inflammation, elastophagocytosis is an important histological hallmark. Treatment is generally difficult.

Clinical implications of de Barsy syndrome.

BACKGROUND: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability. AIMS: The aim of this case series is to identify the anesthetic considerations in the clinical management of patients with de Barsy syndrome. METHODS: A retrospective case review from 1968 to 2016 was performed at a single tertiary medical center to identify patients with de Barsy syndrome who underwent anesthesia for diagnostic and surgical procedures. We collected and analyzed the perioperative records and following data: age, sex, American Society of Anesthesiologists physical status, relevant comorbidities, surgical procedures, anesthesia management, and observed complications. RESULTS: Three patients underwent 64 unique anesthetics for a diverse collection of diagnostic and surgical procedures. An array of anesthetics and techniques were successfully used. Observations of the perioperative period found 7 episodes of intraoperative hyperthermia (>38.3°), a single difficult airway requiring fiberoptic bronchoscopic-guided intubation, and repeatedly difficult intravenous access. CONCLUSION: This expanded case series suggests that providers caring for patients with de Barsy syndrome should be aware of potential challenges with airway management, vascular access, and temperature monitoring.

RESULTS OF MINIMAL INVASIVE TREATMENT IN LOCALIZED ACQUIRED CUTIS LAXA TYPE 1 AND TYPE 2 - CASE REPORT AND DISCUSSION.

Cutis laxa is a disease of premature ageing. While the congenital type is characterized by mutations of genes involved in extracellular matrix turnover, acquired cutis laxa is a rare disease that can be induced by a variety of exogenous factors. We present a case of acquired type 2 cutis laxa of the neck due to excessive exposure to natural sunlight and a type 1 facial acquired cutis laxa, both significantly improved by minor invasive procedures. The etiology, prevention and treatment options are discussed.

Acquired cutis laxa associated with cutaneous mastocytosis.

Cutis laxa is characterized by dramatic wrinkling of skin that is lacking in elasticity due to inherent defects in dermal elastic fibers. Cutis laxa can be caused by genetic and metabolic disorders. It can also be acquired, possibly resulting from inflammatory processes with destruction of elastic fibers. This report describes a 26-year old woman who developed acquired cutis laxa and cutaneous mastocytosis leading to premature aging. She represents a unique co-occurrence of these two separate disease entities. To our knowledge, there has been only one published case report of acquired cutis laxa occurring in association with urticaria pigmentosa in a 4-year old girl. Our case would be a second case that exhibits the coexistence of these two disorders in an adult female.

Fractional photothermolysis treatment of digital cutis laxa reverses hand disability.

In this case study, we present a safe and novel treatment for a patient with soft tissue hand disability caused by severe and chronic lupus and cutis laxa (CL). This patient was a woman in her 50s with a 20-year history of systemic lupus erythematous (SLE) and multiple sclerosis who developed hand disability because of the drastic loss of firmness in her soft tissue, extending from the dermis down to the ligaments. The likely cause was CL with SLE synovitis, exacerbated by corticosteroid tapering. Fractional photothermolysis (FP) LASER (Fraxel DUAL 1550/1927; Solta Medical) therapy profoundly alleviated her joint locking in addition to improving the firmness of the overlying skin to reverse her hand disability. This case illustrates a novel approach to CL hand treatment and the profound impact the treatment had on the patient's disabled hand. FP therapy is quick and safe, and its medical application to skin and joints should be further explored.

Small amounts of functional ATP7A protein permit mild phenotype.

Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked distal motor neuropathy. These disorders are mainly seen in male individuals, but a few affected females have been described. More than 400 different mutations have been identified in the ATP7A gene. We have conducted several studies in the hope of uncovering the relationship between genotype and phenotype. We have examined the X-inactivation pattern in affected females, the effect of exon-deletions and--duplications, and splice-site mutations on the composition and amount of ATP7A transcript, and we have examined the structural location of missense mutations. The X-inactivation pattern did not fully explain the manifestation of MD in a small fraction of carriers. Most of the affected females had preferential inactivation of the X-chromosome with the normal ATP7A gene, but a few individuals exhibited preferential inactivation of the X-chromosome with the mutated ATP7A gene. The observed mild phenotype in some patients with mutations that effect the composition of the ATP7A transcript, seems to be explained by the presence of a small amount of normal ATP7A transcript. The location of missense mutations on structural models of the ATP7A protein suggests that affected conserved residues generally lead to a severe phenotype. The ATP7A protein traffics within the cells. At low copper levels, ATP7A locates to the Trans-Golgi Network (TGN) to load cuproenzymes with copper, whereas at higher concentrations, ATP7A shifts to the post-Golgi compartments or to the plasma membrane to export copper out of the cell. Impaired copper-regulation trafficking has been observed for ATP7A mutants, but its impact on the clinical outcome is not clear. The major problem in patients with MD seems to be insufficient amounts of copper in the brain. In fact, prenatal treatment of mottled mice as a model for human MD with a combination of chelator and copper, produces a slight increase in copper levels in the brain which perhaps leads to longer survival and more active behavior. In conclusion, small amounts of copper at the right location seem to relieve the symptoms.

Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.

Copper is an essential trace element required by all living organisms. Excess amounts of copper, however, results in cellular damage. Disruptions to normal copper homeostasis are hallmarks of three genetic disorders: Menkes disease, occipital horn syndrome, and Wilson's disease. Menkes disease and occipital horn syndrome are characterized by copper deficiency. Typical features of Menkes disease result from low copper-dependent enzyme activity. Standard treatment involves parenteral administration of copper-histidine. If treatment is initiated before 2 months of age, neurodegeneration can be prevented, while delayed treatment is utterly ineffective. Thus, neonatal mass screening should be implemented. Meanwhile, connective tissue disorders cannot be improved by copper-histidine treatment. Combination therapy with copper-histidine injections and oral administration of disulfiram is being investigated. Occipital horn syndrome characterized by connective tissue abnormalities is the mildest form of Menkes disease. Treatment has not been conducted for this syndrome. Wilson's disease is characterized by copper toxicity that typically affects the hepatic and nervous systems severely. Various other symptoms are observed as well, yet its early diagnosis is sometimes difficult. Chelating agents and zinc are effective treatments, but are inefficient in most patients with fulminant hepatic failure. In addition, some patients with neurological Wilson's disease worsen or show poor response to chelating agents. Since early treatment is critical, a screening system for Wilson's disease should be implemented in infants. Patients with Wilson's disease may be at risk of developing hepatocellular carcinoma. Understanding the link between Wilson's disease and hepatocellular carcinoma will be beneficial for disease treatment and prevention.

ATP7A-related copper transport diseases-emerging concepts and future trends.

This Review summarizes recent advances in understanding copper-transporting ATPase 1 (ATP7A), and examines the neurological phenotypes associated with dysfunction of this protein. Involvement of ATP7A in axonal outgrowth, synapse integrity and neuronal activation underscores the fundamental importance of copper metabolism to neurological function. Defects in ATP7A cause Menkes disease, an infantile-onset, lethal condition. Neonatal diagnosis and early treatment with copper injections enhance survival in patients with this disease, and can normalize clinical outcomes if mutant ATP7A molecules retain small amounts of residual activity. Gene replacement rescues a mouse model of Menkes disease, suggesting a potential therapeutic approach for patients with complete loss-of-function ATP7A mutations. Remarkably, a newly discovered ATP7A disorder-isolated distal motor neuropathy-has none of the characteristic clinical or biochemical abnormalities of Menkes disease or its milder allelic variant occipital horn syndrome (OHS), instead resembling Charcot-Marie-Tooth disease type 2. These findings indicate that ATP7A has a crucial but previously unappreciated role in motor neuron maintenance, and that the mechanism underlying ATP7A-related distal motor neuropathy is distinct from Menkes disease and OHS pathophysiology. Collectively, these insights refine our knowledge of the neurology of ATP7A-related copper transport diseases and pave the way for further progress in understanding ATP7A function.

Cutis laxa: a case report and an update.

Very few cases of Cutis Laxa are reported worldwide. This is the first case report of its kind from Bangladesh. A 10 year-old girl looking very aged was admitted in the paediatric ward of Dhaka Medical College with most striking skin feature. There was loosely hanging skin over the face which was inelastic, hyper extensible and which recoils slowly after stretching. She had downward slanting palpebral fissures, periorbital oedema, a broad flat nose with everted nostril, sagging cheeks, and large and soft ears. Skin biopsy showed fragmentation of the elastic tissue with collagen tissue in the dermis, which was suggestive of Cutis Laxa. Her chest x-ray showed hypertranslucent lung fields, prominence of pulmonary conus area and some ring like opacity near the lower zone with cardiomegaly, which is suggestive of corpulmonale with bronchiectasis. Her echocardiography showed dilated right atrium, ventricle and pulmonary artery which were suggestive of corpulmonale. All these confirmed the diagnosis.

Nonsurgical tightening of skin laxity: a new radiofrequency approach.

BACKGROUND: Improvement in skin laxity can be difficult to achieve without invasive surgical procedures. Monopolar radiofrequency (RF) treatment is used by physicians to heat skin and promote tissue tightening and contouring. RF technology produces an electric current that generates heat through resistance in the dermis and subcutaneous tissue. The thermal effect depends on the conductivity features of the treated tissue. When heated, collagen fibrils will denature and contract, which is believed to lead to the observed tissue tightening. METHODS: Ninety-three consecutive patients with mild to moderate laxity were included in the study. The Surgitron Dual Frequency RF (Radiowave technology, Ellman International) was used to treat skin laxity. The application of RF energy took place in an ambulatory setting with no need for skin sterilization or anesthesia. RESULTS: Patients immediately noticed a microlifting retraction in the treated tissues according to the vectors mapped in the area. There were no significant complications and the majority of patients were satisfied with the procedure and able to return to their daily routine after leaving the office, thereby substantiating the popularity of noninvasive rejuvenating procedures.

A case of congenital cutis laxa (generalized elastolysis).

Cutis laxa (generalized elastolysis) is characterized by sagging folds of loose skin on the face and trunk. Although grouped with hyperelastic skin conditions such as Ehlers-Danlos syndrome, cutis laxa shows an almost total lack of skin elasticity. Because it is a generalized state, it may present as an abnormality in the connective tissue of more than one organ system. The authors report a patient who had end-stage renal failure related to heavy chain disease, a recognized association of cutis laxa. Although the patient's vascular abnormalities were significant, she died of respiratory failure at 41 years of age from cutis laxa-induced emphysema.

Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis.

There has been progress made in the understanding of 3 Mendelian disorders: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis cutis and mucosae. While they are primary connective tissue diseases, their names imply a connection to the skin, and in fact, it is often the dermatologist who makes the diagnosis. It seems rational that defects in various extracellular matrix proteins cause lipoid proteinosis or subtypes of cutis laxa, yet the discovery of a liver- and kidney-based transmembrane transporter as the culprit of pseudoxanthoma elasticum was rather surprising and may shed new light on elastic tissue homeostasis.

Xantogranulomatosis subcutánea elastolítica (piel laxa xantogranulomatosa) / Elastolytic subcutaneous xanthogranulomatosis (xanthogranulomatous slack skin)

La xantogranulomatosis subcutánea es una peculiar xantomatosis que probablemente corresponde a una variante muy xantomatizada y con elementos múltiples del xantogranuloma juvenil subcutáneo. Los individuos afectados presentan múltiples nódulos subcutáneos de consistencia firme y localización preferente en el tronco. Los nódulos corresponden a masas xantomatosas subcutáneas que no se acompañan de xantomas cutáneos. Desde el punto de vista histológico se trata de cúmulos celulares bien circunscritos, localizados en dermis profunda e hipodermis y compuestos por una mezcla de células xantomatosas y células gigantes de tipo cuerpo extraño y de tipo Touton. Los estudios analíticos de los lípidos séricos resultan normales. Un varón de 52 años consultó porque a lo largo de los últimos años toda la piel de la espalda y zona superior del tórax había ido adquiriendo un aspecto irregular, laxo y plegado. En estas zonas presentaba múltiples lesiones nodulares subcutáneas, de consistencia firme. Microscópicamente los nódulos estaban constituidos por una población predominante de células xantomatosas y algunas células gigantes multinucleadas. En el interior del citoplasma de muchas de las células gigantes se observó la presencia de cuerpos asteroides. Además presentaba xantomas en las conjuntivas bulbares y un intenso linfedema en ambas piernas. Consideramos que este caso es un ejemplo más de la denominada xantogranulomatosis subcutánea con dos peculiaridades clínicas: el hallazgo de piel laxa en las zonas afectadas y la asociación con linfedema y elefantiasis cutánea en miembros inferiores. Por otra parte hemos reseñado el peculiar hallazgo histológico de cuerpos asteroides en el interior de las células gigantes del infiltrado xantomatoso (AU)

Cutis laxa acquisita associated with multiple myeloma: a case report and review of the literature.

Cutis laxa acquisita is a rare disorder that affects collagen and elastin metabolism. The cause is unknown. Characteristic features include sagging and laxity of the skin, as well as involvement of the lungs, heart, gastrointestinal system, and urogenital tract. Three cases of cutis laxa acquisita have been reported in association with multiple myeloma. Due to the rarity of these disorders, a linkage has been postulated. The clinical and histologic data from the fourth case of cutis laxa acquisita associated with multiple myeloma were compared to the three other cases previously reported in the literature. The relationship between acquired cutis laxa and multiple myeloma is unclear, with only one case revealing possible immune-mediated elastin destruction via IgG immunoglobulin bound to dermal elastin fibers on immunofluoresence examination. No pattern in the clinical courses of the disorder can be seen on review of the four cases with coincident disease. We hypothesize that cutis laxa acquisita represents a paraneoplastic process of multiple myeloma, given the rarity of these diseases. Further investigation is necessary to determine the underlying linkage between these disorders. We suggest that serum and urine protein electrophoresis results be obtained in patients presenting with cutis laxa acquisita to screen for multiple myeloma given this association.

Cutis laxa: etiology, pathophysiology, characteristics, and management.

Cutis laxa causes premature aging of the skin, which results in an abnormal appearance. Corrective, not aesthetic, surgery is one treatment option. A blepharoplasty and facelift would be two procedures that can be performed.