Blefaroplastia com cantopexia em paciente portadora de cútis laxa: Um relato de caso / Blepharoplasty with canthopexy in a patient with cutis laxa: A case report

Cútis laxa é uma rara doença do tecido conectivo caracterizada pela disfunção das fibras elásticas. Indivíduos acometidos por essa enfermidade queixam-se de sua aparência envelhecida. Os tratamentos se baseiam no uso de cosméticos ou em técnicas cirúrgicas, sendo a cirurgia plástica uma ferramenta de extrema relevância. A blefaroplastia tem o objetivo de melhorar a aparência senil e proporcionar rejuvenescimento na área ao redor dos olhos, fazendo com que o olhar pareça mais descansado e alerta. Trata-se de um estudo observacional retrospectivo utilizando os dados do prontuário. Relato do Caso: Paciente do sexo feminino, 17 anos, encaminhada ao serviço de Cirurgia Plástica do Hospital Universitário Walter Cantídio, Fortaleza- CE, para tratamento devido à insatisfação com a sua aparência. Submetida a uma blefaroplastia superior e inferior associada a cantopexia sem cantotomia. No período pós-operatório, foi observado resultado satisfatório para a cirurgia proposta e adequada correção das alterações existentes. Conclusão: Observa-se a importância da correção cirúrgica facial nos casos de cútis laxa, ressaltando a relevância da aplicação de técnicas cirúrgicas adequadas e o aprimoramento das mesmas nesse perfil de paciente.

Cutis laxa is a rare connective tissue disease characterized by dysfunction of elastic fibers. Individuals affected by this disease complain about their aged appearance. Treatments are based on the use of cosmetics or surgical techniques, with plastic surgery being an extremely relevant tool. Blepharoplasty aims to improve the senile appearance and provide rejuvenation in the area around the eyes, making the look appear more rested and alert. This is a retrospective observational study using medical record data. Case Report: A female patient, 17 years old, was referred to the Plastic Surgery Service of the Walter Cantídio University Hospital, Fortaleza-CE, for treatment due to dissatisfaction with her appearance. She underwent upper and lower blepharoplasty associated with canthopexy without canthotomy. In the postoperative period, a satisfactory result was observed for the proposed surgery and adequate correction of existing changes. Conclusion: The importance of facial surgical correction in cases of lax skin is observed, highlighting the relevance of applying appropriate surgical techniques and improving them in this patient profile.

Four Cases of the Rare Skin Manifestation: Monoclonal-Proteinemia / 罕见病研究

The skin manifestations of monoclonal(M)-proteinemia are rare and present in patients with monoclonal gammopathy of undetermined significance (MGUS), smoldering plasma cell myeloma (SMM) and multiple myeloma (MM). In this study, we reported 4 cases with M-proteinemia-related rare skin lesions, including pyoderma gangrenosum (PG), erythema elevatum diutinum (EED), cutis laxa (CL) and lichen myxedematosus(LM). These skin lesions are specific, where the potential mechanism was immune-mediated paraneoplastic syndrome rather than direct plasma cell infiltration. Anti-plasma cell treatment was effective in treating skin lesions. The clinical outcome of MM-related skin changes was correlated to tumor control, whereas the prognosis of MGUS or SMM related skin lesions was favorable. Skin involvement in M-proteinemia is extremely rare and less well-known, which greatly impairs quality of life. The diagnosis and treatment of these 4 cases support the need for futher study.

Efeitos do microagulhamento associado a radiofrequência no tratamento de flacidez abdominal em mulheres: Estudo experimental / Effects of microneedling associated radiofrequency in the treatment of abdominal sagging in women: Experimental study

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)

Genotype and phenotype analysis in a case of cutis laxa type 3 / 中华内分泌代谢杂志

Objective:To report the clinical and genetic characteristics of autosomal dominant cutis laxa type 3 caused by ALDH18A1 mutation, and therefore to further understand this rare disease.Methods:High-precision full-exon sequencing was performed for the patient from the Department of Endocrinology and Genetic Metabolism, Children′s Hospital of Chongqing Medical University and genotype-phenotype correlation was summarized. Relevant literature was also reviewed.Results:A 9-month-old boy was admitted with complaint of " development retardation for 9 months, cough for 3 days" , accompanied by skin laxity, special features, skeletal malformation, tracheal bronchus, inguinal hernia, gastroesophageal reflux, and abnormal creases on palms. The heterozygous variation of ALDH18A1 c. 274C>G(p.Leu92Val) on chromosome 10 was revealed using high-precision full-exon sequencing. Together with imaging and metabolomics results, the diagnosis of cutis laxa type 3 was determined. The clinical presentations of this disease are variable, encompassing skin, bone, joint, and neuromuscular system.Conclusion:For suspected pediatric case, it is very important to evaluate the clinical manifestations and metabolic index at regular intervals, and to identify the molecular basis of the disease with gene sequencing early on.

Research progress in related gene of autosomal recessive cutis laxa / 天津医药

@#Autosomal recessive cutis laxa is a common type of hereditary cutis laxa. Its pathogenesis is not completely clear, but involved genes and their corresponding functions and signaling pathways have gradually become the research focus. According to the latest research, the related genes and their responding signaling pathways not only provide a solid foundation for the pathogenesis of cutis laxa, but also indicate a direction for instructing healthy pregnancy and scientific nurture. This paper aims to review the recent advances in pathogenic genes and potential signaling pathways in autosomal recessive cutis laxa.

Case report and literature review of ATP6V0A2 gene mutation features of the patient with congenital cutis laxa / 天津医药

The incidence of autosomal recessive cutis laxa induced by ATP6VOA2 gene mutation is extremely low in neonates and rarely reported in China.There was one case of ATP6VOA2 gene mutations caused autosomal recessive cutis laxa diagnosed in Tianjin Children's Hospital.This article reviewed the diagnosis and treatment of the patient and reviewed the relevant literature,in order to improve the understanding of the disease.

Mutation detection in a case of Costello syndrome complicated by cutis laxa / 中华皮肤科杂志

Objective To report a case of Costello syndrome complicated by curis laxa,and to make a molecular genetic diagnosis.Methods Clinical data were collected from a case of Costello syndrome complicated by cutis laxa.Skin tissues were resected from the patient,and peripheral blood samples were obtained from the patient's parents and 150 unrelated healthy controls.Genomic DNA was extracted from these samples,and all the exons and their flanking sequences of the HRAS gene were analyzed by DNA sequencing.Results The 13-month-old female patient presented with growth retardation,severe malnutrition,coarse facial appearance,severely loose skin over the limbs,and decrease or disappearance of subcutaneous fat.A heterozygous mutation c.34G ＞ T (p.Gly12Cys) was detected in exon 2 of the HRAS gene in the patient,but not in her parents or 150 unrelated healthy controls.Conclusion The c.34G ＞ T (p.Gly12Cys) mutation in exon 2 of the HRAS gene may be responsible for Costello syndrome in the patient.

Aplicação de ácido poli-l-lático para o tratamento da flacidez corporal / Poly-L-lactic acid injections in sagging body skin

Introdução: O tratamento da flacidez cutânea corporal constitui grande desafio, pois poucos são os procedimentos destinados a melhorá-la. O ácido poli-L-lático é polímero sintético injetável da família dos alfa-hidroxiácidos, cuja injeção na derme profunda ou hipoderme superficial induz reação local e gradual, com síntese de novo colágeno pelos fibroblastos e consequente aumento da espessura dérmica. Objetivo: Avaliar os efeitos do ácido poli-L-lático na flacidez da pele do corpo. Métodos: Quatorze pacientes que apresentavam flacidez de região glútea foram tratadas com duas aplicações de ácido poli-L-lático com intervalos de 45 dias entre elas. Foram realizadas avalição clínica inicial e seis meses após a segunda aplicação, fotos prévias e seis meses após o tratamento, bem como foram aplicados questionários às pacientes e ao médico avaliador, e realizado exame ultrassonográfico de todas as pacientes para verificação do aumento de espessura dérmica. Foram avaliados também os efeitos adversos observados. Resultados: Na opinião das pacientes, 85% apresentaram melhora no aspecto geral da pele e 71% na flacidez. Para o médico avaliador, 100% das pacientes apresentaram melhora no aspecto geral da pele e na flacidez, porém em graus variáveis e não proporcionais ao grau de gravidade inicial. Onze pacientes tiveram aumento da espessura dérmica acima de 20% dos pontos. Não houve efeitos colaterais importantes no período avaliado. Conclusões: Os resultados são promissores e devem ser confirmados com a realização de estudos com casuística maior.

Introduction: The treatment of sagging skin in body areas is still a big challenge, as there are few aesthetic procedures aiming to improve it. The poly-L-lactic acid (PLLA) is an injectable synthetic polymer of the alpha-hydroxy acids family, which injection into the deep dermis or superficial hypodermis induces a local and gradual reaction, with synthesis of new collagen by the fibroblasts and consequent increase of dermal thickness. Purpose: Evaluate the effects of poly-L-lactic acid on the sagging skin of the body. Methods: Fourteen patients with sagging in gluteal region underwent two applications of poly-L-lactic acid with a 45 days interval between them. We performed an initial clinical evaluation and after six months of the second application, photos before and after six months of treatment, questionnaires answered by the patient and by the evaluating physician and ultrasound examination of all patients to assess the increase of dermal thickness. The adverse effects observed were also evaluated. Results: In patient's opinion, 85% presented improvement of general appearance of the skin and 71% noticed improvement of sagging. For the evaluating physician, 100% of patients presented improvement of general appearance of the skin and improvement of sagging, but in different degrees and not proportional to the initial degree of severity. There was no significant side effects in the period evaluated. Conclusions: The results are promising and should be confirmed with studies with a larger sample size.

Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myeloma / Amiloidose sistemica primaria, cutis laxa adquirida e mucinose cutanea em paciente com mieloma multiplo

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.

Marshall's syndrome / Síndrome de Marshall

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. .

Ritidoplastia em paciente de 11 anos como tratamento auxiliar da elastólise pós-inflamatória (cutis laxa) - desafios no tratamento / Rhytidoplasty in an 11 - year - old patient as adjuvant treatment for post inflammatory elastolysis and cutis laxa - challenges in the treatment

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...

Cutis laxa en una lactante / Cutis laxa in an infant

Se describe el caso clínico de una lactante de 18 meses de edad, quien fue atendida en la consulta externa del Hospital Oftalmológico "Amistad Argelia-Cuba" de la Wilaya de Djelfa en la República Democrática y Popular de Argelia, por caída de los párpados. En el examen físico se observó facies tosca, piel laxa, arrugada, caída e hiperextensible, con grandes pliegues, así como aspecto de envejecimiento, blefarocalasia y ectropion. No se detectaron alteraciones musculoesqueléticas, hernia inguinal o umbilical, ni otras manifestaciones gastrointestinales, genitourinarias o cardiorrespiratorias. Por las características clínicas se concluyó que la paciente presentaba cutis laxa.

The clinical case of an infant aged 18 months is described, who was attended in the Outpatient Department from "Amistad Argelia-Cuba" Ophthalmology Hospital of the Wilaya of Djelfa in the People's Democratic Republic of Algeria due to eyelid drooping. On physical examination coarse facies, hiperextensible and sagging, wrinkled lax skin with large folds were observed, as well as aging appearance, blepharochalasis and ectropion. There were not musculoskeletal changes, groin or umbilical hernia, or other gastrointestinal, genitourinary or cardiopulmonary manifestations. Taking into account clinical characteristics it was concluded that the patient presented with cutis laxa.

Progeroid Syndrome of De Barsy With Hypocalcemic Seizures.

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, corneal 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 Afghani origin and also first case reported from United Arab Emirates, there have been no reported cases of hypocalcemic seizures.

Hair Abnormality and Cutis Laxa in Menkes Disease / 대한피부과학회지

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.

Hair Abnormality and Cutis Laxa in Menkes Disease / 대한피부과학회지

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.

Congenital cutis laxa with rectal and uterovaginal prolapse.

A two-month-old female infant born of a consanguineous marriage, presented with loose, wrinkled and inelastic skin over the neck, axillae, trunk, inguinal region and thighs with slow elastic recoil. Patient also had systemic manifestations in the form of bilateral apical lobe consolidation of lung, bilateral inguinal hernia, rectal and uterovaginal prolapse. Histopathological examination of skin biopsy with special stain for elastic tissue revealed absence of dermal elastic tissue. Genital abnormalities in patients with congenital cutis laxa have been reported rarely. But rectal and uterovaginal prolapse have not been reported at an early age of two months. In the absence of mutational screening, with history and clinical findings our case is likely to be Type I autosomal recessive form of congenital cutis laxa.

Classic Type Ehlers-Danlos Syndrome with Cutis Laxa-like Histopathologic Findings / 대한피부과학회지

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.

Cútis laxa: relato de caso / Cutis laxa: case report

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.

Penicillamine-induced Elastosis Perforans Serpiginosa and Cutis Laxa in a Patient with Wilson's Disease

Elastosis perforans serpiginosa (EPS) is a rare reactive perforating dermatosis that is characterized by the transepidermal elimination of abnormal elastic fibers. Penicillamine, which is one of the clear triggers for EPS, is a heavy metal chelator that is primarily used for disorders such as cystinuria and Wilson's disease. It may cause alterations in the dermal elastic tissue such as pseudo-pseudoxanthoma elasticum, acquired cutis laxa, EPS and anetoderma. Herein we present a case of cutis laxa and EPS in a 34-year-old man who was previously on a long-term, high-dose of penicillamine for Wilson's disease. The combination of EPS and cutis laxa induced by penicillamine has rarely been reported and we report the first such case in Korea.

A Case of Cutis Pleonasmus

In 2005, Kreidstein first proposed the term "Cutis pleonasmus," a Greek term meaning "redundancy," which refers to the excessive skin that remains after massive weight loss. Cutis pleonasmus is clearly distinguishable from other diseases showing increased laxity of the skin, such as pseudoxanthoma elasticum, congenital and acquired generalized cutis laxa. Although individuals who are severely overweight are few and bariatric surgeries are less common in Korea than in the West, the number of these patients is increasing due to changes to Western life styles. We report a case for a 24-year-old man who presented with generalized lax and loose skin after massive weight loss. He was diagnosed with cutis pleonasmus based on the history of great weight loss, characteristic clinical features and normal histological findings. To the best of our knowledge, this is the first report of cutis pleonasmus in Korea.