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1.
Fisioter. Bras ; v.22(4): 597-608, Nov 2, 2021.
Article in Portuguese | LILACS | ID: biblio-1353441

ABSTRACT

A flacidez tissular abdominal é uma disfunção dermatológica que incomoda principalmente as mulheres. A radiofrequência e o microagulhamento são recursos utilizados para minimizar essa flacidez. Objetivo: Investigar os efeitos do microagulhamento associado a radiofrequência na flacidez tissular abdominal. Métodos: Trata-se de um estudo experimental, controlado e randomizado, com amostra de 20 mulheres, faixa etária entre 18 e 35 anos, dispostas em dois grupos: Grupo 1 (G1) foi aplicada 1 sessão de microagulhamento, após 15 dias reavaliação utilizando a plicometria e perimetria e Grupo 2 (G2) 1 sessão de microagulhamento, após 15 dias realizaram-se 4 sessões de radiofrequência com intervalo de 1 dia entre as sessões. Resultados: O G2 apresentou diminuição de flacidez do músculo reto abdominal direito apresentando p = 0,009, flanco direito p = 0,001 e flanco esquerdo p = 0,004, assim como a redução da circunferência abdominal. A avaliação de satisfação corporal do G2 teve escore final p = 0,029. Conclusão: O microagulhamento associado a radiofrequência promoveram uma melhora clínica da flacidez tissular abdominal e flancos. (AU)


Subject(s)
Female , Adult , Cutis Laxa , Dry Needling , Radio Waves , Collagen , Elastin , Cell Proliferation , Fibroblasts
2.
Rev. bras. cir. plást ; 34(4): 436-444, oct.-dec. 2019. ilus, tab
Article in English, Portuguese | LILACS | ID: biblio-1047896

ABSTRACT

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


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , History, 21st Century , Postoperative Complications , Skin , Surgical Procedures, Operative , Comparative Study , Rhytidoplasty , Therapeutic Approaches , Bariatric Surgery , Face , Postoperative Complications/surgery , Postoperative Complications/therapy , Skin/anatomy & histology , Skin/pathology , Surgical Procedures, Operative/adverse effects , Surgical Procedures, Operative/methods , Rhytidoplasty/adverse effects , Rhytidoplasty/methods , Therapeutic Approaches/standards , Cutis Laxa , Cutis Laxa/therapy , Bariatric Surgery/adverse effects , Bariatric Surgery/methods , Face/anatomy & histology , Face/pathology
3.
Article in Chinese | WPRIM | ID: wpr-776806

ABSTRACT

OBJECTIVE@#To carry out genetic diagnosis for a pedigree affected with cutis laxa.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from members of the pedigree and 50 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and verified by Sanger sequencing.@*RESULTS@#A heterozygous c.1985delG mutation was identified in the ELN gene among all patients from this pedigree. The same mutation was not found among unaffected family members and 50 healthy controls.@*CONCLUSION@#The genetic etiology for the pedigree has been elucidated, which has enabled genetic counseling and guidance for reproduction.


Subject(s)
Cutis Laxa , Genetics , Elastin , Genetics , Heterozygote , High-Throughput Nucleotide Sequencing , Humans , Mutation , Pedigree
4.
Rev. bras. oftalmol ; 76(2): 65-69, Mar.-Apr. 2017. tab, graf
Article in English | LILACS | ID: biblio-899041

ABSTRACT

Abstract Objective: To quantitatively and qualitatively evaluate postoperative outcomes and patient satisfaction after upper blepharoplasty and to correlate the findings with changes between preoperative and postoperative eyelid measurements using a digital imaging system. Methods: A total of 60 eyelids in 30 patients with dermatochalasis who were treated in the ambulatory center of the Department of Oculoplastic Surgery at the Anápolis Ophthalmology Hospital were evaluated. Patients ranged from 40 to 80 years of age. Photographs were taken before the upper blepharoplasty procedure and 90 days after as well. The images were transferred to the ImageJ 1.34n program. The parameters analyzed were palpebral fissure height in primary position and margin-crease distance. The correlations between these measurements and patient satisfaction 90 days after surgery were evaluated. Results: This study revealed an increase in the margin-crease distance after upper blepharoplasty and a high positive correlation (0.64) between the increase in this height and the level of satisfaction that the patients attributed to the surgery. There was no statistically significant difference between preoperative and postoperative palpebral fissure heights. Conclusion: The margin-crease distance may serve as a quantitative measurement of a good cosmetic and functional outcome, since it has been found to be strong correlated with patient satisfaction.


Resumo Objetivo: Avaliar de maneira quantitativa e qualitativa o resultado pós-operatório e a satisfação de pacientes submetidos à blefaroplastia superior e correlacionar com as medidas palpebrais antes e após a cirurgia utilizando o sistema de imagem digital. Métodos: Foram avaliadas 60 pálpebras de 30 pacientes com dermatocálase atendidos no ambulatório de Plástica Ocular do Hospital Oftalmológico de Anápolis, com idade entre 40 e 80 anos. Foram realizadas fotografias antes e 90 dias após blefaroplastia superior. Essas imagens foram transferidas para o programa Image J 1.34n e analisados os parâmetros de altura da fenda palpebral em posição primária do olhar e distância margem-sulco palpebral. Foram avaliadas as correlações dessas medidas com a satisfação do paciente após 90 dias de pós-operatório. Resultados: O estudo mostrou um aumento da distância margem-sulco palpebral após blefaroplastia superior e uma correlação fortemente positiva (0,64) entre o aumento dessa medida e a nota de avaliação atribuída pelo paciente à cirurgia. Não houve diferença estatisticamente significante na altura da fenda palpebral antes e após a cirurgia. Conclusão: A utilização da medida da distância margem-sulco pode servir como parâmetro quantitativo de um bom resultado estético e funcional, apresentando uma forte correlação com a satisfação dos pacientes no pós-operatório.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Patient Satisfaction , Blepharoplasty/methods , Eyelid Diseases/surgery , Eyelids/anatomy & histology , Image Processing, Computer-Assisted , Prospective Studies , Cutis Laxa/surgery , Eyelids/surgery
5.
Arq. bras. oftalmol ; 79(4): 226-228, July-Aug. 2016. tab
Article in English | LILACS | ID: lil-794573

ABSTRACT

ABSTRACT Purpose: To evaluate the Abbreviated National Eye Institute Visual Function Questionnaire (NEI VFQ 9), which is shorter than those previously published, as a tool for assessing vision-related quality of life in patients with ptosis and dermatochalasis. Methods: This is a cohort study of 46 patients who underwent blepharoptosis and/or upper eyelid blepharoplasty surgery by a single surgeon (CN) in 2013 in a public, academic, ambulatory care referral center. Patients included 29 who underwent blepharoplasty, 11 who underwent ptosis surgery, and 6 who underwent combined surgery. The NEI-VFQ 9 was administered pre- and postoperatively, and the composite scores were compared using Student's t-test. Survey duration was timed in a subset of patients. The hypothesis was that the NEI VFQ 9 could detect a statistically significant improvement in composite score after surgical intervention. Results: The mean pre- and postoperative NEI VFQ 9 composite scores were 74.9 and 86.8, respectively, in the blepharoplasty-only group (P<0.0001), 72.07 and 86.41, respectively, in the ptosis-only group (P=0.004), and 75.8 and 87.2, respectively, in the combined group (P=0.022). There was no correlation between the gain in composite score and the change in upper eyelid margin to reflex distance. Twenty-five patients were timed filling out the survey, and the mean was 2.3 min. Conclusions: The NEI VFQ 9 consistently demonstrates a significant increase in visual function for blepharoptosis and dermatochalasis patients. Thus, it may be a useful tool for assessing vision-related quality of life in patients with ptosis and dermatochalasis.


RESUMO Objetivo: Avaliar o Questionário Abreviado de Função Visual do National Eye Institute (NEI VFQ 9) como uma ferramenta para avaliar a visão relacionada com a qualidade de vida (QoL) em pacientes com blefaroptose e dermatocálase. Método: Estudo de coorte de blefaroptose e dermatocálase pacientes tratados por um único cirurgião (CN) em 2013. O acompanhamento foi de 2-3 meses. Pacientes em um centro de referência acadêmico para a atenção pública ambulatorial com ptose funcional e/ou dermatocálase de pálpebra superior foram avaliados prospectivamente utilizando o NEI-VFQ 9. Quarenta e seis pacientes completaram o estudo: 29 pacientes se submeteram somente à blefaroplastia, 11 apenas à cirurgia de ptose, e 6 pacientes à cirurgia combinada. Foram excluídos pacientes com outra cirurgia simultânea da pálpebra. O teste foi repetido em uma visita pós-operatória. A duração teste foi cronometrada em um subgrupo de pacientes. Escores compostos pré e pós-operatórios foram comparados com o teste T de Student. O desfecho principal foi a pontuação composta. Os autores propõem que a NEI VFQ 9 seria capaz de detectar uma melhora estatisticamente significativa na pontuação composta após a intervenção cirúrgica. Resultados: No grupo de blefaroplastia apenas, o NEI VFQ 9 apresentou a média composta de 74,9 e 86,8 no pré e pós-operatório, respectivamente (p<0,0001). Para os pacientes submetidos apenas à cirurgia de ptose, a pontuação média composta foi 72,07 e 86,41, no pré e pós-operatório, respectivamente (p=0,004). No grupo de cirurgias combinadas combinação, a pontuação composta média pré-operatória foi de 75,8, e a pós-operatória foi de 87,2 (p=0,022). Não houve correlação entre o ganho de pontuação composta e a mudança no MRD1. Vinte e cinco pacientes foram cronometrados ao preencher o teste, a média foi de 2,3 minutos. Conclusões: O NEI VFQ 9 demonstra consistentemente um aumento na função visual para pacientes submetidos à cirurgia de blefaroptose e dermatocálase, sendo um instrumento de pesquisa mais curto do que daqueles publicados anteriormente.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Quality of Life , Blepharoptosis/surgery , Eyelid Diseases/surgery , Eyelids/surgery , Time Factors , United States , Visual Acuity , Surveys and Questionnaires/standards , Reproducibility of Results , Cohort Studies , Treatment Outcome , Patient Satisfaction , Blepharoplasty/methods , Cutis Laxa/surgery , National Eye Institute (U.S.)
6.
Pesqui. vet. bras ; 36(2): 73-76, fev. 2016. tab, graf
Article in English | LILACS | ID: lil-777392

ABSTRACT

Dermatosparaxis is an autosomal recessive disorder of connective tissue; the disorder is clinically characterized by skin fragility and hyperextensibility. Dermatosparaxis in White Dorper sheep is caused by a single nucleotide polymorphism (SNP) (c.421G>T) in the ADAM metalloproteinase with thrombospondin type 1 motif, 2 (ADAMTS2) gene. The aim of this study was to investigate the prevalence of this SNP in a White Dorper herd in São Paulo state, Brazil. In this study, we collected blood DNA samples from 303 White Dorper sheep and performed polymerase chain reaction to amplify the SNP region. The samples were sequenced to determine the presence of the SNP in the ADAMTS2 gene. The SNP prevalence in the studied population was 15.5%; this finding indicates that more effective control measures should be used to prevent the inheritance of SNP c.421G>T in the ADAMTS2 gene in Brazilian White Dorper herds.


A dermatosparaxia é uma doença autossômica recessiva do tecido conjuntivo, clinicamente caracaterizada pela fragilidade e hiperextensibilidade da pele. A dermatosparaxia em ovinos White Dorper é causada pelo polimorfismo de base única (SNP) c.421G>T no gene ADAM metalopeptidase com trombospondina tipo 1 motif, 2 (ADAMTS2). O objetivo deste estudo foi investigar a prevalência deste SNP em ovinos White Dorper no estado de São Paulo, Brasil. Foram coletadas amostras de sangue de 303 ovinos White Dorper. O DNA foi purificado destas amostras sanguíneas e utilizado em uma reação em cadeia da polimerase (PCR) para amplificação da região do gene contendo SNP c.421G>T. Os produtos das PCR foram sequenciados para determinar o genótipo dos animais. A prevalência do SNP na população estudada foi de 15,5%, estes achados indicam que medidas de controle efetivas devem ser utilizadas para prevenir a disseminação deste SNP no rebanho brasileiro de White Dorper.


Subject(s)
Animals , Skin Abnormalities/prevention & control , Asthenia/veterinary , Cutis Laxa/veterinary , Sheep/genetics , Polymorphism, Single Nucleotide/genetics , Skin Abnormalities/veterinary , DNA , Polymerase Chain Reaction/veterinary , Ehlers-Danlos Syndrome/veterinary
7.
Dermatol. argent ; 21(4): 284-287, 2015. ilus
Article in Spanish | LILACS | ID: lil-784774

ABSTRACT

La D-penicilamina es la opción terapéutica más utilizada en la enfermedad de Wilson, rara enfermedad genética, autosómica recesiva, en la cual existe una alteración en el metabolismo del cobre que se deposita en los tejidos (hígado, encéfalo y córnea). Presenta numerosos efectos adversos, la mayoría cutáneos, que se observan cuando la droga es utilizada en altas dosis y por largo tiempo; entre ellos se encuentran las dermatosis degenerativas, que incluyen elastosis perforante serpiginosa, cutis laxa, anetodermia y pseudo-pseudoxantoma elástico (también llamado pseudoxantoma elástico símil o pseudoxantoma elástico like). Se presenta una paciente de 29 años con antecedentes de enfermedad de Wilson asociada a elastosis perforante serpiginosa y pseudo-pseudoxantoma elástico, ambas secundarias al tratamiento con D-penicilamina.


Penicillamineis the most commonly used therapeutic option in Wilson's disease.This is a rare, genetic, autosomal recessive diseasein which there is an alteration inthe metabolism of copper that is deposited in the tissues (liver, brain and cornea).It has numerous adverse effects, most of them affecting skin, but they are onlyobserved when the drug is used in high doses and for a long time, such as perforatingelastosis serpiginosa, cutis laxa, anetodermia and pseudo-pseudoxantomaelasticum (also called elasticum pseudoxantoma simil or elasticum pseudoxantomalike). We present the case of a29 year-old woman with a history of Wilson's diseaseand two concomitant degenerative dermatoses: elastosis perforans serpiginosa andpseudo pseudoxanthoma elasticum, both of them, secondary to treatment with Dpenicillamine.


Subject(s)
Humans , Disease , Hepatolenticular Degeneration/diagnosis , Anetoderma , Cutis Laxa , Penicillamine , Pseudoxanthoma Elasticum
9.
Pesqui. vet. bras ; 34(5): 443-448, May 2014. ilus
Article in Portuguese | LILACS | ID: lil-714715

ABSTRACT

Dermatosparaxia em animais é uma doença autossômica recessiva do tecido conjuntivo caracterizada por fragilidade e hiperextensibilidade cutânea. A doença em ovinos White Dorper é provocada pela mutação c.421G>T no gene ADAMmetalopeptidase com trombospondina tipo 1 motif, 2 (ADAMTS2). O objetivo deste estudo foi descrever os achados clínicos, moleculares e histopatológicos da dermatosparaxia em ovinos White Dorper de um rebanho localizado no Centro-Oeste Paulista. [...] Dos nove animais examinados, dois apresentavam sinais clínicos compatíveis com dermatosparaxia. O exame histopatológico de amostras cutâneas das lesões destes dois animais revelou também achados compatíveis com dermatosparaxia, sendo caracterizados por epiderme e anexos cutâneos preservados e sem características atípicas; colágeno displásico arranjado em feixes pequenos, fragmentados e com focos de degeneração, anexos cutâneos proeminentes e na região da derme foco hemorrágico intenso associado a moderado infiltrado neutrofílico na derme profunda. Com o objetivo de realizar o diagnóstico molecular da enfermidade, uma PCR foi padronizada utilizando primers específicos desenhados para amplificar a região do gene ADAMTS2 que continha a mutação c.421G>T e o DNA obtido de amostras de sangue de todos os animais do rebanho. O sequenciamento direto dos produtos da PCR, comprovou que os dois animais clinicamente afetados possuíam a mutação responsável pela dermatosparaxia. A metodologia descrita neste estudo possibilitou o diagnóstico definitivo da doença. Segundo a literatura consultada, esta é a primeira vez que a dermatosparaxia é descrita em ovinos White Dorper no Brasil. A metodologia aqui descrita poderá ser empregada em estudos futuros que avaliem a prevalência desta mutação no Brasil, possibilitando a adoção de medidas que previnam a disseminação dessa mutação no rebanho brasileiro de ovinos White Dorper.


Dermatosparaxis in animals is an autosomal recessive disorder of the connective-tissue clinically characterized by skin fragility and hiperextensibility. The disease in White Dorper sheep is caused by mutation (c.421G>T) in the ADAM metalloproteinase with thrombospondin type 1 motif, 2 (ADAMTS2) gene. This study describes the dermatological, histological and the molecular findings of the dermatosparaxis in White Dorper sheep from a herd located in the center-west of São Paulo State. [...] The herd consisted of one ram, four ewe and their lambs. In this herd two lambs had clinical signs consistent with dermatosparaxis. Histopathological evaluation of the affected skin of these two animals also revealed consistent findings with dermatosparaxis, characterized by dysplasia of the collagen, which were arranged in small and fragmented collagen bundles and with foci of degeneration of collagen. Prominent cutaneous appendages and severe hemorrhagic focus in dermis region associated with mild neutrophilic infiltrate in the deep dermis. PCR using DNA blood and specific primers to amplify the mutation region c.421G>T was optimized in order to perform molecular diagnosis of the disease. The direct sequencing of the PCR products proved that the two clinically affected animals had the mutation responsible for dermatosparaxis, previously described for this breed and allowed the definitive diagnosis of the disease. This is the first report of the dermatosparaxis in White Dorper sheep in Brazil and the methodology used to confirm the diagnosis could be used in future studies to assess the prevalence of this mutation in Brazil, allowing the adoption of measures to prevent the spread of this mutation in the Brazilian White Dorper herd.


Subject(s)
Animals , Collagen/isolation & purification , Cutis Laxa/veterinary , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/veterinary , Sheep Diseases/genetics , Chromosome Disorders/veterinary , Mutation/genetics , Polymerase Chain Reaction/veterinary
10.
An. bras. dermatol ; 88(6,supl.1): 32-35, Nov-Dec/2013. tab, graf
Article in English | LILACS | ID: lil-696800

ABSTRACT

A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain, consistent with cutis laxa. The diagnosis of primary systemic amyloidosis was made by the presence of amyloid material in the eyelid using histopathological techniques, besides this, the patient was also diagnosed with purpura, polyneuropathy, bilateral carpal tunnel syndrome and monoclonal gammopathy. She was diagnosed as suffering from multiple myeloma based on the finding of 40% plasma cells in the bone marrow, component M in the urine and anemia. The patient developed blisters with a clear content, confirmed as mucinosis by the histopathological exam. The final diagnoses were: primary systemic amyloidosis, acquired cutis laxa and mucinosis, all related to multiple myeloma.


Mulher de 57 anos, com equimose periorbitária, frouxidão cutânea nas dobras, polineuropatia e síndrome do túnel do carpo bilateral.O exame histopatológico da lesão axilar revelou fragmentação de fibras elásticas, porém a coloração de von Kossa foi negativa;o diagnóstico foi de cútis laxa. Amiloidose sistêmica primária foi confirmada pela presença de material amilóide no exame histopatológico da pálpebra, além de púrpura, polineuropatia, síndrome do túnel do carpo bilateral e gamopatia monoclonal. Foi diagnosticada como portadora de mieloma múltiplo por apresentar 40% de plasmócitos na medula óssea, componente M urinário e anemia. A paciente evoluiu com bolhas de conteúdo citrino, cujo exame histopatológico mostrou mucinose. Os diagnósticos finais foram: amiloidose sistêmica primária, cútis laxa adquirida e mucinose, todos vinculados ao mieloma múltiplo.


Subject(s)
Female , Humans , Middle Aged , Amyloidosis/pathology , Cutis Laxa/pathology , Mucinoses/pathology , Multiple Myeloma/pathology , Skin Diseases/pathology , Biopsy , Disease Progression
11.
An. bras. dermatol ; 88(2): 279-282, abr. 2013. graf
Article in English | LILACS | ID: lil-674186

ABSTRACT

Marshall´s syndrome is a form of acquired cutis laxa without systemic involvement, which is preceded by an inflammatory dermatitis with a neutrophilic component. We report a case of a 6-year-old boy with clinical and histopathological features of this syndrome. The etiology remains unknown and there is no definitive treatment.


Síndrome de Marshall é uma forma de cutis laxa adquirida, sem envolvimento sistêmico, que é precedida por uma dermatite inflamatória com componente neutrofílico. Relatamos o caso de um menino de 6 anos de idade com as características clínicas e histopatológicas desta síndrome. A etiologia desta doença permanece desconhecida e ainda não existe um tratamento definitivo. .


Subject(s)
Child , Humans , Male , Cutis Laxa/pathology , Biopsy , Cutis Laxa/drug therapy , Syndrome , Skin/pathology , Treatment Outcome
12.
Rev. bras. cir. plást ; 28(4): 691-694, july-sept. 2013.
Article in English | LILACS | ID: lil-779149

ABSTRACT

Cutis laxa is a rare morbidity, is caracterized as a connective tissue disorder manifested primarily by sagging cut and may affect other organs. The authors report a case of cutis laxa in a patient of 11 years old with the development of a senile fascia with pronounced ritidose perioral, periocular and nasolabial sulcus. Rhytidectomy was performed as an auxiliary treatment. The patient showed a good evolution of the postoperative scars with good quality and remarkable improvement in sagging of the midface and later recurrence of the same part in the follow-up evaluation two years. Patient and family were very pleased with the outcome. The surgical team, however, realized the limitation of the procedure and the need for additional treatment with auxiliaries and the like as peeling...


Cútis laxa é uma morbidade rara, caracterizada por ser uma desordem do tecido conjuntivo que se manifesta principalmente por flacidez cutânea, podendo acometer variavelmente outros órgãos. Os autores relatamum caso de cútis laxa em paciente de 11 anos que desenvolveu face senil com pronunciada ritidose perioral e periocular, bem como acentuação dos sulcos nasogenianos. Foi realizada ritidoplastia como tratamento cirúrgico. Apresentou boa evolução pós-operatória, com cicatrizes de boa qualidade e melhora notável na flacidez do terço médio da face e, posteriormente, recorrência parcial da mesma no acompanhamento tardio de dois anos. Paciente e familiares ficaram muito satisfeitos com o resultado. A equipe cirúrgica, entretanto, percebeu limitação do resultado cirúrgico e necessidade de complementação com tratamentos auxiliares como peelings e similares...


Subject(s)
Humans , Female , Adolescent , Cutis Laxa , Connective Tissue Diseases/surgery , Face/surgery , Rhytidoplasty , Surgical Procedures, Operative , Connective Tissue/abnormalities , Diagnostic Techniques and Procedures , Methods , Patient Satisfaction , Patients
13.
Rev. bras. cir. plást ; 27(1): 174-174, jan.-mar. 2012.
Article in Portuguese | LILACS | ID: lil-626549
14.
Rev. bras. cir. plást ; 27(1): 175-175, jan.-mar. 2012.
Article in English, Portuguese | LILACS | ID: lil-626550
15.
Article in Korean | WPRIM | ID: wpr-130080

ABSTRACT

Menkes disease, so called kinky-hair syndrome, is a rare fatal X-linked recessive disorder, which is caused by a mutation in the ATP7A gene encoding the copper transporting ATPase. Dysfunction of copper-dependent enzymes results in various clinical features, including skin and hair hypopigmentation, progressive neurologic degeneration, bone and connective tissue alterations with soft doughy skin and joint laxity, and vascular abnormalities, including aneurysms and bladder diverticula. Patients have the characteristic hair, which is kinky, colorless or steel-colored, and brittle with cutis laxa. Early diagnosis and treatments are perquisites for improving the clinical outcomes. Herein, we describe a rare case of Menkes disease accompanied by hair abnormality and cutis laxa in a 35-days-old boy.


Subject(s)
Adenosine Triphosphatases , Aneurysm , Connective Tissue , Copper , Cutis Laxa , Diverticulum , Early Diagnosis , Hair , Hair Diseases , Humans , Hypopigmentation , Joint Instability , Menkes Kinky Hair Syndrome , Skin , Urinary Bladder
16.
Article in Korean | WPRIM | ID: wpr-130065

ABSTRACT

Menkes disease, so called kinky-hair syndrome, is a rare fatal X-linked recessive disorder, which is caused by a mutation in the ATP7A gene encoding the copper transporting ATPase. Dysfunction of copper-dependent enzymes results in various clinical features, including skin and hair hypopigmentation, progressive neurologic degeneration, bone and connective tissue alterations with soft doughy skin and joint laxity, and vascular abnormalities, including aneurysms and bladder diverticula. Patients have the characteristic hair, which is kinky, colorless or steel-colored, and brittle with cutis laxa. Early diagnosis and treatments are perquisites for improving the clinical outcomes. Herein, we describe a rare case of Menkes disease accompanied by hair abnormality and cutis laxa in a 35-days-old boy.


Subject(s)
Adenosine Triphosphatases , Aneurysm , Connective Tissue , Copper , Cutis Laxa , Diverticulum , Early Diagnosis , Hair , Hair Diseases , Humans , Hypopigmentation , Joint Instability , Menkes Kinky Hair Syndrome , Skin , Urinary Bladder
17.
Gulf Medical University: Proceedings. 2011; 29-30: 118-121
in English | IMEMR | ID: emr-140739

ABSTRACT

De Barsy et al first reported a rare cutaneo-oculo-cerebral malformation syndrome, now commonly referred as 'progerioid syndrome of de Barsy'. It is the constellation of progeria-like appearance, cutis laxa, intrauterine growth retardation, cornea clouding and hypotonia. We report a case of Debarsy syndrome in a neonate presented at birth with typical clinical features with hypocalcemic seizures. There are no previous reports among those of Afghani origin and this also is the first case reported from United Arab Emirates. There have been no reported cases of hypocalcemic seizures


Subject(s)
Humans , Male , Cutis Laxa/diagnosis , Intellectual Disability/diagnosis , Seizures , Hypocalcemia , Review Literature as Topic
18.
Article in Korean | WPRIM | ID: wpr-148864

ABSTRACT

Ehlers-Danlos syndrome is a connective tissue disorder that is characterized by hyper-extensible skin, hyper-mobile joints, fragile tissues, bleeding diathesis and poor healing of wounds with "cigarette paper" scar formation. Cutis laxa is also a disease of the elastic fibers of the connective tissue and characterized by loose skin folds over all parts of the body, a prematurely aged appearance, a hooked nose with a short colummella and umbilical/inguinal hernias. We report here on two patients who showed the symptoms of Ehlers-Danlos syndrome with histopathologically reduced and distorted elastic fibers, which is usually seen in cutis laxa.


Subject(s)
Aged , Cicatrix , Connective Tissue , Cutis Laxa , Disease Susceptibility , Ehlers-Danlos Syndrome , Elastic Tissue , Hemorrhage , Hernia , Humans , Joints , Nose , Skin
20.
An. bras. dermatol ; 85(5): 684-686, set.-out. 2010. ilus
Article in Portuguese | LILACS | ID: lil-567830

ABSTRACT

A Cútis laxa é uma doença rara, hereditária ou adquirida. Resulta da alteração do tecido elástico, tornando a pele frouxa e inelástica. A forma congênita tem geralmente acometimento sistêmico, com pior prognóstico. Os autores relatam o caso de uma paciente, com quadro clínico sugestivo da forma hereditária da doença, com pais consangüíneos (primos de 2º grau) e irmão falecido com clínica semelhante. O estudo genético do gene FBLN5 teve importância na confirmação diagnóstica, na definição do prognóstico e no aconselhamento genético familiar.


Cutis laxa is a rare inherited or acquired disorder of elastic tissue characterized by inelastic and loose skin. Congenital cutis laxa may present with internal organ involvement, determining a worse prognosis. The authors present the case of a female patient with clinical manifestations suggestive of the hereditary form of the disease, with consanguineous parents (second-degree cousins) and a brother who died with a similar clinical presentation. The genetic study of the FBLN5 gene was important to confirm the diagnosis, define the prognosis, and provide genetic counseling to the family.


Subject(s)
Child, Preschool , Female , Humans , Cutis Laxa/congenital , Consanguinity , Cutis Laxa/diagnosis , Extracellular Matrix Proteins/genetics , Facies
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