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BACKGROUND: Pyoderma Gangrenosum (PG) is a chronic disease characterized by recalcitrant skin ulcers. OBJECTIVE: We aimed to evaluate the demographic, clinical characteristics, treatments and factors affecting the treatment responses of patients with PG. METHODS: We performed a multicenter study of 12 tertiary care centers. We analyzed the data of the patients who were followed up with a diagnosis of PG between the years 2012‒2022 retrospectively. RESULTS: We included a total of 239 patients of whom 143 were female and 96 were male, with an average age of 54.2 ±â€¯17.4 years. The most common treatment was systemic steroids (n = 181, 75.7%). Among these patients, 50.8% (n = 92) used systemic steroids as the sole systemic agent, while 49.2% (n = 89) used at least one adjuvant immunosuppressive agent. The independent factors determined in regression analysis to influence response to systemic steroids positively were disease onset age ≥ 30-years, negative pathergy, absence of leukocytosis, negative wound culture, presence of a single lesion, and absence of upper extremity involvement. Biological agents were used in 18.4% (n = 44) of the patients in the present study. We also analyzed pathergy positive PG and early onset (onset age < 30) PG separately due to their distinct clinical features which were revealed during statistical analysis. STUDY LIMITATIONS: Retrospective nature of the present study. CONCLUSIONS: Analyses of the factors influencing treatment responses are addressed in this study. Also, we concluded that investigation for accompanying autoinflammatory diseases of pathergy positive PG and early onset PG is necessary and the patients in these two groups are more resistant to treatment, necessitating more complicated treatments.

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Pyoderma gangrenosum is a rare disease in childhood. Extra-cutaneous manifestations are uncommon in pyoderma gangrenosum, even more so in children, with only a few cases reported in the literature. We present the case of a pediatric patient with pyoderma gangrenosum and associated pulmonary involvement. In this case, the diagnosis was delayed leading to late initiation of therapy, emphasizing the importance of maintaining a high level of suspicion for this diagnosis.

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Staphylococcus pseudintermedius is the most common opportunistic pathogen in dogs and methicillin resistance (MRSP) has been identified as an emerging problem in canine pyoderma. Here, we evaluated the antimicrobial resistance (AMR) features and phylogeny of S. pseudintermedius isolated from canine pyoderma cases in Argentina (n = 29) and the United States (n = 29). 62% of isolates showed multi-drug resistance. The AMR genes found: mecA, blaZ, ermB, dfrG, catA, tetM, aac(6')-aph(2″), in addition to tetK and lnuA (only found in U.S. isolates). Two point mutations were detected: grlA(S80I)-gyrA(S84L), and grlA(D84N)-gyrA(S84L) in one U.S. isolate. A mutation in rpoB (H481N) was found in two isolates from Argentina. SCCmec type III, SCCmec type V, ΨSCCmec57395 were identified in the Argentinian isolates; and SCCmec type III, SCCmec type IVg, SCCmec type V, and SCCmec type VII variant in the U.S. cohort. Sequence type (ST) ST71 belonging to a dominant clone was found in isolates from both countries, and ST45 only in Argentinian isolates. This is the first study to comparatively analyze the population structure of canine pyoderma-associated S. pseudintermedius isolates in Argentina and in the U.S. It is important to maintain surveillance on S. pseudintermedius populations to monitor AMR and gain further understanding of its evolution and dissemination.

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Abstract Cutaneous manifestations occur in the course of hematologic malignancies and precede, accompany or occur late in relation to the diagnosis. They result from paraneoplastic phenomena, tumor infiltrations, immunosuppression resulting from the hematologic disease itself or its treatment. The dermatologist must be aware of these conditions that may be helpful both in the diagnosis of the underlying disease and in reducing patient morbidity. This review (part II) addresses the paraneoplastic dermatological changes associated with systemic hematologic malignancies.

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Tyzzer disease (TD) is a highly fatal condition of animals caused by Clostridium piliforme and characterized pathologically by enteritis, hepatitis, myocarditis, and occasionally encephalitis. Cutaneous lesions have been reported only rarely in animals with TD, and infection of the nervous system has not been described in cats, to our knowledge. We describe here neurologic and cutaneous infection by C. piliforme in a shelter kitten with systemic manifestations of TD and coinfection with feline panleukopenia virus. Systemic lesions included necrotizing typhlocolitis, hepatitis, myocarditis, and myeloencephalitis. The cutaneous lesions consisted of intraepidermal pustular dermatitis and folliculitis, with necrosis of keratinocytes and ulceration. Clostridial bacilli were identified within the cytoplasm of keratinocytes by fluorescence in situ hybridization, and a PCR assay was positive for C. piliforme. C. piliforme can infect keratinocytes leading to cutaneous lesions in cats with the location suggesting direct contact with contaminated feces as a route of infection.

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Staphylococcus pseudintermedius is an opportunistic pathogen commonly associated with skin infections in dogs. Twenty-three methicillin-resistant S. pseudintermedius (MRSP) isolated in Argentina from dogs with pyoderma were analyzed using whole genome sequencing (WGS) and classified into sequence types (ST) by multilocus sequence typing (MLST) and staphylococcal chromosome cassette mec (SCCmec) types.Based on the WGS analysis, MLST, and SCCmec type results, we report for the first time in Argentina two MRSP strains, one each, belonging to ST71-SCCmec III and ST45-ΨSCCmec57395 from dogs with pyoderma. We also identified seven isolates with ST339, which had been previously reported in only two isolates in Argentina. Additionally, we identified ten MRSP isolates harboring variants of the SCCmec V found in S. aureus, seven SCCmec V (5C2&5) with two ccrC1 recombinases, and three SCCmec V (5C2) with one ccrC1 recombinase.Our findings provide important insights into the evolution and geographic spread of these hypervirulent dominant clones that threaten the health of our companion animals and represent a significant risk for zoonotic infections.

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El pioderma gangrenoso es una enfermedad inflamatoria, poco común, de etilogía desconocida, caracterizada por la infiltración neutrófila estéril de la dermis, que puede o no estar asociada con enfermedades sistémicas. Su descripción clásica es la presencia de una o más lesiones ulceradas cutáneas, dolorosas, de aspecto infeccioso, bordes irregulares, socavados y con una desmesurada respuesta al trauma local denominado patergia. Se presenta el caso de una paciente de 58 años de edad, con lesiones en piel de dos meses de evolución y varios tratamientos previos sin mejorar. Al ser reevaluada, fue diagnosticado y tratado su caso como un pioderma gangrenoso con evolución satisfactoria.

Pyoderma gangrenosum is a rare inflammatory disease of unknown etiology characterized by sterile neutrophilic infiltration of the dermis, which may or may not be associated with systemic disease. Its classic description is the presence of one or more ulcerated skin lesions, painful, with an infectious appearance, irregular edges, undermined and with an excessive response to local trauma called pathergy. The case of a 58-years-old patient is presented, with skin lesions of two months' evolution and several previous treatments without improvement. Upon reassessment, her case was diagnosed and treated as pyoderma gangrenosum with satisfactory evolution.

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Cutaneous manifestations occur in the course of hematologic malignancies and precede, accompany or occur late in relation to the diagnosis. They result from paraneoplastic phenomena, tumor infiltrations, immunosuppression resulting from the hematologic disease itself or its treatment. The dermatologist must be aware of these conditions that may be helpful both in the diagnosis of the underlying disease and in reducing patient morbidity. This review (part II) addresses the paraneoplastic dermatological changes associated with systemic hematologic malignancies.

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SUMMARY OBJECTIVE: Inflammatory bowel diseases may have extra intestinal manifestations such as those affecting the skin. This study aimed to study skin manifestations in a cohort of Brazilian patients with inflammatory bowel diseases. METHODS: Epidemiological and clinical data were obtained through a cross-sectional study of 70 inflammatory bowel diseases patients and a control group comprising 50 healthy individuals. All patients were subjected to dermatological examination and photography of skin lesions. RESULTS: Out of the 70 inflammatory bowel diseases patients, 50 had ulcerative colitis and 20 had Crohn's disease. Skin lesions occurred in 95.7% of the inflammatory bowel diseases patients and in 88% of individuals in the control group (p=0.001). Alopecia (p<0.0001), xerosis (p=0.03), striae (p=0.02), and acne (p=0.04) were more common in inflammatory bowel diseases patients than in the control group. Alopecia was more frequent in females (p=0.01) than in males. Two male patients, one with ulcerative colitis and the other with Crohn's disease, had pyoderma gangrenosum. Erythema nodosum was not observed in both groups. CONCLUSION: There was a high prevalence of skin lesions in the Brazilian inflammatory bowel diseases patients. Additionally, alopecia, xerosis, striae, and acne were more common in patients with inflammatory bowel diseases than in those in the control group.

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Sporotrichosis is a fungal disease that causes symptoms similar to those of other infectious and non-infectious diseases, making diagnosis difficult and challenging. Here, we report a case of an HIV-negative patient presenting disseminated sporotrichosis with widespread cutaneous lesions mimicking pyoderma gangrenosum, with bone marrow infection, pancytopenia, and hemophagocytic syndrome. However, all the clinical manifestations and a bacterial coinfection delayed the request for a fungal diagnosis. Therefore, sporotrichosis should always be investigated in patients from endemic areas presenting with widespread cutaneous lesions associated with pancytopenia.

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Introdução: O pioderma gangrenoso (PG) é uma doença neutrofílica, rara, porém de consequências danosas. O Capítulo de Feridas da Sociedade Brasileira de Cirurgia Plástica (SBCP) foi instado a compilar as melhores práticas, tanto diagnósticas como terapêuticas, junto às Sociedades Brasileiras de Dermatologia e Reumatologia para um melhor esclarecimento dos seus membros. Métodos: Ampla revisão de artigos publicados na literatura médica e compilação das novas diretrizes de diagnóstico e tratamento por dois membros indicados por cada uma das Sociedades Brasileiras de Cirurgia Plástica, Dermatologia e Reumatologia. Resultados: O PG deixou de ser uma doença de exclusão, tendo os critérios diagnósticos bem definidos e a orientação terapêutica delineada pelos autores, incluindo o uso de terapia biológica. Conclusão: O PG permanece desafiador, mas sistematizar a investigação e o uso dos novos medicamentos, bem como o manejo das feridas, abre novas perspectivas, interferindo na fisiopatologia de modo positivo, com maior precocidade e menos efeitos colaterais do que a terapia imunossupressora de forma isolada.

Introduction: The pyoderma gangrenosum (PG) is a neutrophilic disease, rare but with a poor outcome. The Capitulum of Wound treatment of the Brazilian Society of Plastic Surgery (SBCP) promoted a discussion with the Brazilian societies of Dermatology and Rheumatology to extract the best procedures in diagnostic and treatment. Methods: Broad review of published articles related to the subject and compilation of guidelines of diagnostic and treatment by two advisors of each involved society, plastic surgery, dermatology and rheumatology. Results: The PG is not an exclusion disease anymore, with well defined criteria for its diagnostic and literature based treatment, refined by the authors, including the use of biological therapies. Conclusion: The PG remains challenging, but systematizing the investigation and the use of new drugs has opened a new horizon of treatments, interfering in the pathophysiology in a positive manner with fewer side effects than immunosuppressive therapy alone.

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Background: Cutaneous involvement is the second-most frequent extraintestinal manifestation of inflammatory bowel disease, with pyoderma gangrenosum (PG) a particularly relevant form because of its frequency, morbidity, and recurrence. The limited number of clinical trials involving PG increases the challenge to gastroenterologists in the management of this condition. Case Presentation: Four cases of atypical presentations of PG are reported. A 25-year-old patient with ulcerative colitis presented an extensive chronic ulcerative lesion on her left leg that was associated with significant bleeding; the intestinal disease was in remission under the use of azathioprine. The patient was on long-term use of 60 mg corticosteroid with no improvement in the skin disease; however, initiation of cyclosporine induced remission. In the second case, a 52-year-old woman was a carrier of Crohn's disease, with a history of partial colectomy. The patient's skin condition had evolved with a cutaneous lesion localized in the perineal region, buttocks, and colostomy pouch, simulating a case of impetigo, and this had been treated with antibiotic cycles without improvement. Lesion biopsy suggested a diagnosis of PG. Consequently, the patient was started on biological therapy with infliximab, and the PG regressed. In the third case, a 38-year-old woman with a history of pancolitis presented a picture of PG with an extensive and deep ulcerative lesion in the right breast. The lesion regressed after treatment with oral corticosteroid. The final case was a 44-year-old woman with Crohn's disease suffering from Crohn's disease pancolitis. The patient's condition evolved with a mixed pattern with pustules, bullae, and ulcerative lesions in the vulva, oral cavity, gluteus, right auricular region, scalp, and left flank, and was resolved by administration of adalimumab. Conclusion: PG is an important and frequent manifestation of inflammatory bowel disease, with a spectrum of clinical variants, significant morbidity, and requiring a variety of therapeutic approaches.

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RESUMEN El pioderma gangrenoso (PG) es una enfermedad inflamatoria rara de causa desconocida, perteneciente al grupo de las dermatosis neutrofílicas, caracterizada por ulceraciones cutáneas dolorosas y recurrentes, asociada comúnmente con enfermedades autoinmunes o neoplasias, pero también aparece de forma independiente a estos trastornos. Existen varios subtipos: ulceroso o clásico, ampollar, pustuloso y vegetante. Se presenta una paciente femenina de 68 años de edad, con lesión ulcerosa cutánea, con cultivos bacteriológicos y micológicos negativos, biopsia cutánea que informó pioderma gangrenoso y exámenes complementarios para descartar enfermedades asociadas. No se evidenció asociación con enfermedades sistémicas.

ABSTRACT Pyoderma gangrenosum (PG) is a rare inflammatory disease of unknown cause, belonging to the group of neutrophilic dermatoses, characterized by painful and recurrent skin ulcerations and commonly associated with autoimmune diseases or neoplasms, although it can also occur independently of these disorders. Ulcerative or classic, bullous, pustular and vegetating forms are the different subtypes. We present a 68-year-old female patient with an ulcerative skin lesion, negative bacteriological and mycological cultures, a skin biopsy showing pyoderma gangrenosum and complementary examinations to rule out associated diseases. No association with systemic diseases was evidenced.

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Abstract The skin demonstrates what is happening in the body in many diseases, as it reflects some internal processes on the surface. In this sense, skin as an organ, goes beyond its protective and barrier functions, as it provides clues for the identification of some systemic diseases. The dermatologist then raises diagnostic hypotheses for conditions related to all systems and refers them to the appropriate specialty. With easy access to examination by trained eyes and biopsies, the skin can present specific or non specific alterations on histopathology. In the first case this combination establishes the diagnosis of the disease itself. Non specific manifestations can occur in a variety of contexts and then histopathology is not specific of a particular disease. This article is divided into two parts that will cover large groups of diseases. In this first part, cutaneous manifestations of the main rheumatologic diseases are described, which are the ones with the greatest interface with dermatology. The authors also talk about vascular manifestations and granulomatous diseases. In the second part, endocrinological, hematological, oncological, cardiovascular, renal, gastrointestinal diseases, pruritus and its causes are discussed, and finally, the dermatological manifestations of SARS-CoV-2 coronavirus infection. The authors' intention is that, by using direct and easily accessible language, aim to provide practical material for consultation and improvement to all dermatologists who recognize the importance of a comprehensive assessment of their patients.

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The skin demonstrates what is happening in the body in many diseases, as it reflects some internal processes on the surface. In this sense, skin as an organ, goes beyond its protective and barrier functions, as it provides clues for the identification of some systemic diseases. The dermatologist then raises diagnostic hypotheses for conditions related to all systems and refers them to the appropriate specialty. With easy access to examination by trained eyes and biopsies, the skin can present specific or non specific alterations on histopathology. In the first case this combination establishes the diagnosis of the disease itself. Non specific manifestations can occur in a variety of contexts and then histopathology is not specific of a particular disease. This article is divided into two parts that will cover large groups of diseases. In this first part, cutaneous manifestations of the main rheumatologic diseases are described, which are the ones with the greatest interface with dermatology. The authors also talk about vascular manifestations and granulomatous diseases. In the second part, endocrinological, hematological, oncological, cardiovascular, renal, gastrointestinal diseases, pruritus and its causes are discussed, and finally, the dermatological manifestations of SARS-CoV-2 coronavirus infection. The authors' intention is that, by using direct and easily accessible language, aim to provide practical material for consultation and improvement to all dermatologists who recognize the importance of a comprehensive assessment of their patients.

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Resumen Las infecciones por Staphylococcus aureus meticilino-resistente adquiridas en la comunidad son cada vez más frecuentes y se deben sospechar en casos de piodermitis u otras infecciones necrotizantes, tanto en niños como en adultos sin factores de riesgo clásicos. Se presenta un brote familiar de piodermitis por Staphylococcus aureus meticilino-resistente adquirido en la comunidad, ocurrido en la ciudad de Valparaíso-Chile, que afectó a una madre de veintiséis años y a su hijo de diez quienes debieron ser tratados con aseo quirúrgico y cotrimoxazol forte, con buena respuesta clínica.

Abstract Community-acquired methicillin-resistant Staphylococcus aureus infections are becoming more frequent and should be suspected in cases of pyoderma or other necrotizing infections, both in children and adults without classic risk factors. A family outbreak of pyodermitis by Community-acquired methicillin-resistant Staphylococcus aureus infection occurred in Valparaíso-Chile, which affected a twenty-six-year-old mother and her ten-year-old son, who had to be treated with a surgical toilet and cotrimoxazole forte, with good clinical response.

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RESUMO Introdução: O pioderma gangrenoso é uma doença inflamatória rara caracterizada pela presença de lesões ulceradas. A etiologia é desconhecida, mas aparentemente relaciona-se com fatores imunológicos. Os autores relatam um caso de pioderma gangrenoso no pós-operatório de uma mamoplastia redutora, o tratamento e a importância do diagnóstico precoce para obtenção de um bom resultado estético. Métodos: Trata-se de uma paciente de 18 anos que desenvolveu pioderma gangrenoso após uma mamoplastia redutora. Os sintomas iniciais foram a formação de bolhas de coloração violácea e lesões ulceradas em ambas mamas. Suspeitou-se a doença e a paciente foi tratada prontamente com prednisolona. Foram realizadas culturas, biópsias e exames sanguíneos. Realizou-se terapia hiperbárica e suporte nutricional. Foram realizados curativos diários com fator de crescimento epidérmico. Após 60 dias de acompanhamento foi possível conseguir uma cicatrização adequada da feridas e bons resultados estéticos. Resultados: O diagnóstico precoce associado a uma terapia sistêmica imunossupressora e cuidados locais rigorosos foram fundamentais para a estabilização da doença. A associação com terapia hiperbárica e o suporte nutricional contribuíram para a epitelização das lesões e o controle do quadro clínico. A aproximação das bordas da ferida com sutura subdérmica e posterior sutura intradérmica foram possíveis devido à recuperação da derme e estabilização da doença. Conclusão: O diagnóstico precoce de pioderma gangrenoso é fundamental para conseguir a estabilização da doença. É possível atingir bons resultados estéticos baseados em 4 elementos: corticoide sistêmico precoce, curativos locais diários com fator de crescimento epidérmico, suporte nutricional e terapia hiperbárica.

Abstract Introduction: Pyoderma gangrenosum is a rare inflammatory disease characterized by the presence of ulcerated lesions. The etiology is unknown but apparently relates to immunological factors. The authors report a case of pyoderma gangrenosum in the postoperative period of a reduction mammoplasty, treatment, and the importance of early diagnosis to obtain a good aesthetic result. Methods: This is an 18-year-old patient who developed pyoderma gangrenosum after a reduction mammoplasty. The initial symptoms were the formation of violet blisters and ulcerated lesions in both breasts. The disease was suspected, and the patient was promptly treated with prednisolone. Cultures, biopsies and blood tests were performed. Hyperbaric therapy and nutritional support were performed. Daily dressings with epidermal growth factors were performed. After 60 days of follow-up, it was possible to achieve adequate wound healing and good aesthetic results. Results: Early diagnosis associated with systemic immunosuppressive therapy and rigorous local care were fundamental for disease stabilization. The association with hyperbaric therapy and nutritional support contributed to the lesion's epithelialization and the clinical picture control. The approximation of the wound edges with subdermal suture and the subsequent intradermal suture was possible due to the recovery of the dermis and stabilization of the disease. Conclusion: Early diagnosis of pyoderma gangrenosum is essential to achieve stabilization of the disease. It is possible to achieve good aesthetic results based on four elements: early systemic corticosteroids, daily local dressings with epidermal growth factor, nutritional support, and hyperbaric therapy.

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Introdução: A abdominoplastia é um procedimento com índice considerável de complicações, ainda que, em sua maioria, de bom prognóstico. Algumas complicações, entretanto, podem ser catastróficas, como a necrose extensa de pele e as complicações infecciosas graves. Dentre as causas incomuns de perda extensa de pele no pós-operatório, podemos citar o pioderma gangrenoso (PG), doença de curso crônico, recidivante, com comportamento imprevisível e de etiologia ainda desconhecida. No âmbito da cirurgia plástica, essa doença pode mimetizar clinicamente complicações pós-operatórias isquêmicas ou infecciosas, cujos tratamentos diferem por completo do tratamento do PG. Relato de Caso: Paciente feminina, 41 anos, previamente hígida, foi submetida à abdominoplastia associada à lipoaspiração e mamoplastia de aumento com colocação de próteses mamárias. Evoluiu com edema, calor hiperemia e dor em incisão de abdominoplastia, além de comprometimento clínico sistêmico. Submetida a desbridamentos cirúrgicos e tratamento sistêmico, com piora progressiva das lesões. Diante do insucesso dos tratamentos propostos, aventada a hipótese diagnóstica de pioderma gangrenoso. Conclusão: O PG, apesar de raro, deve ser aventado como diagnóstico diferencial em casos de complicações pós-operatórias com perda e necrose de pele que não respondem às medidas iniciais de tratamento, além de quadros aparentemente infecciosos que não respondem às terapias antibióticas adotadas.

Introduction: Abdominoplasty is a procedure with a considerable rate of complications, even though, for the most part, it has a good prognosis. Some complications, however, can be catastrophic, such as extensive skin necrosis and serious infectious complications. Among the unusual causes of extensive skin loss in the postoperative period, we can mention gangrenous pyoderma (PG), a chronic, recurrent disease with unpredictable behavior and an unknown etiology. In the field of plastic surgery, this disease can clinically mimic ischemic or infectious postoperative complications, whose treatments differ completely from the treatment of PG. Case Report: A 41-year-old female patient, previously healthy, underwent abdominoplasty associated with liposuction and breast augmentation with the placement of breast implants. The patient evolved with edema, hyperemia and pain in an abdominoplasty incision, in addition to systemic clinical involvement. She was submitted to surgical debridement and systemic treatment, with progressive worsening of the lesions. In view of the failure of the proposed treatments, the diagnostic hypothesis of gangrenous pyoderma was raised. Conclusion: PG, although rare, should be considered as a differential diagnosis in cases of postoperative complications with skin loss and necrosis that do not respond to initial treatment measures, in addition to apparently infectious conditions that do not respond to adopted antibiotic therapies.

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RESUMEN Introducción: el síndrome malformativo de manos y pies hendidos, es un defecto congénito poco frecuente con patrón de herencia autosómico dominante, de forma simétrica. Presentación de caso: se presenta una lactante de tres meses que nace a las 36 semanas, con peso de 2 450 gramos, talla 50 cm, Apgar 8-9. Se detecta al nacimiento, hendidura mediana en ambas manos y pies con ectrodactília de 2do y 3er dedo de todos sus miembros, no otras malformaciones. El servicio de neonatología del hospital pediátrico provincial solicita valoración por genética clínica que después de un examen físico exhaustivo, llega al diagnóstico sindrómico. Es el primer caso de la provincia. Conclusiones: el método clínico es primordial para realizar el diagnóstico con la ayuda de los estudios radiológicos y clasificar el tipo de ectrodactília. Se mantiene con seguimiento multidisciplinario por ortopédicos, psicólogos, fisiatras y genetista clínico, quienes brindan un adecuado asesoramiento genético, así como la información de futuras operaciones que mejorarán la funcionalidad de sus miembros y elevarán su calidad de vida.

ABSTRACT Introduction: malformation of cleft hand and foot syndrome is a rare congenital defect with autosomal dominant inheritance pattern, symmetrical in shape. Case presentation: a three-month-old female infant born at 36 weeks, weighing 2450 grams, height 50 cm, Apgar 8-9, detected at birth median cleft in both hands and feet with ectrodactyly of the 2nd and 3rd fingers of all limbs, no other malformations. The neonatology service of the provincial pediatric hospital requests assessment by clinical genetics that after an exhaustive physical examination leads to the syndromic diagnosis, resulting in the first case in the province. Conclusions: considering of great value the clinical method to conduct the diagnosis with the help of radiological studies to be able to classify the type of ectrodactyly. The patient is kept with multidisciplinary follow-up by orthopedics, psychologists, physiatrists and clinical geneticist, providing adequate genetic counseling, as well as information on future operations that will improve the functions of her limbs and improve her quality of life.