Prevalence of the Linburg-Comstock Anomaly in a Brazilian Population Sample / Prevalência da anomalia de Linburg-Comstock em uma amostra populacional brasileira

Abstract Objective To determine the prevalence of the Linburg-Comstock anomaly in a Brazilian population sample. Methods A cross-sectional observational study was carried out between October 2017 and April 2018. We included male and female volunteers aged 18 years or older. The presence of the Linburg-Comstock anomaly was determined by performing the clinical tests described by Linburg and Comstock. The data were analyzed using the GraphPad Prism software, and we considered differences with p < 0.05. Results The study analyzed 1,008 volunteers (2,016 hands) with a mean age of 38.3 years, 531 (52.67%) of which were male, and 477 (47.33%) were female. The Linburg-Comstock anomaly was diagnosed in 564 (55.95%) individuals, and it was bilateral in 300 (53.2%) of them, right-sided in 162 (28.72%), and left-sided in 102 (18.08%). No significant differences were found when comparing the prevalence between genders. However, a the prevalence of the right-sided anomaly in the male population (n = 99; 70.21%) was higher than in the female one (n = 63; 51.21%), with p = 0.0016. In addition, the presence of pain by the maneuver described by Linburg and Comstock was more prevalent in women (n = 150; 54.94%) than in men (n = 105; 36.08%), with p = 0.0001. These results show the importance of epidemiological studies on the Linburg-Comstock anomaly, mainly in order to investigate the presence of associated conditions. Conclusion The prevalence of the Linburg-Comstock anomaly in the studied population was of 55.95%, and it was bilateral in 53.2% of the volunteers. The presence of the connection was observed more frequently in the right side and among men, but the pain symptom was more frequent among women.

Resumo Objetivo Determinar a prevalência da anomalia de Linburg-Comstock em uma amostra populacional brasileira. Métodos Estudo observacional transversal realizado no período de outubro de 2017 a abril de 2018. Foram incluídos voluntários dos gêneros feminino e masculino, com idade igual ou superior a 18 anos. A presença da anomalia de Linburg-Comstock foi determinada pela realização dos testes clínicos descritos por Linburg e Comstock. Os dados foram analisados por meio do software GraphPad Prism, sendo consideradas diferenças com valores de p < 0,05. Resultados O estudo analisou 1.008 voluntários (2.016 mãos) com idade média de 38,3 anos, dos quais 531 (52,67%) eram do gênero masculino, e 477 (47,33%) eram do gênero feminino. A anomalia de Linburg-Comstock foi diagnosticada em 564 voluntários (55,95%) da população estudada, sendo bilateral em 300 (53,2%), direita em 162 (28,72%), e esquerda em 102 (18,08%). Não foram encontradas diferenças significativas quando se comparou a prevalência entre os gêneros. Porém, foi encontrada uma maior prevalência da anomalia direita na população masculina (n = 99; 70,21%) do que na feminina (n = 63; 51,21%), com p = 0,0016. Além disso, a presença da dor pela manobra descrita por Linburg e Comstock foi mais prevalente nas mulheres (n = 150; 54,94%) do que nos homens (n = 105; 36,08%), com p = 0,0001. Estes resultados mostram a importância dos estudos epidemiológicos sobre a anomalia de Linburg-Comstock, principalmente com o intuito de investigar a presença de afecções associadas. Conclusão A prevalência da anomalia de Linburg-Comstock na população estudada foi de 55,95%, sendo bilateral em 53,2% dos voluntários. A presença da conexão foi observada com maior frequência do lado direito em homens, mas o sintoma dor foi mais frequente nas mulheres.

Síndrome de Adams-Oliver en dos casos clínicos / Adams-Oliver Syndrom in two clinical cases

Introducción: El síndrome de Adams-Oliver es una enfermedad heterogénea, caracterizada por aplasia cutis congénita y defecto transverso terminal de extremidades, con un amplio espectro fenotípico de malformaciones asociadas. Se han descrito diferentes modos de herencia en esta enfermedad. En el contexto cubano no se ha presentado ni publicado hasta el momento, casos de pacientes afectados por este síndrome Objetivo: Aportar evidencia que demuestra la presentación de casos con síndrome de Adams-Oliver. Presentación de casos: Se exponen dos casos de pacientes neonatales con síndrome de Adams-Oliver desde el punto de vista clínico, ambos de presentación esporádica. Además de la aplasia cutis congénita y el defecto transverso terminal de extremidades, uno de los pacientes exhibía cutis marmorata telangiectásica congénita y una anomalía de Ebstein. Conclusiones: Se exponen dos neonatos con síndrome de Adams-Oliver, ambos de presentación esporádica y uno de estos con una cardiopatía congénita (anomalía de Ebstein) no informada hasta ahora en la literatura(AU)

Introduction: The Adams-Oliver syndrome is a heterogenic disease characterized by aplasia cutis congenita and terminal transverse limb defects, with a wide phenotypic spectrum of associated malformations. Different kinds of inheritance of this disease have been described. In Cuba, any cases of patients suffering this syndrome have not been presented or published so far. Objective: To provide evidence demonstrating the presentation of cases with Adams-Oliver syndrome. Cases report: Two cases of neonatal patients with Adams-Oliver syndrome are presented from the clinical point of view, both of which are sporadic. In addition to the aplasia cutis congenita and the terminal transverse defect of the limbs, one of the patients presented congenital cutis marmorata telangiectatic and Ebstein anomaly. Conclusions: Two newborns cases with Adams-Oliver syndrome, both of sporadic presentation and one of these with a congenital heart disease (Ebstein anomaly) not previously reported in the literature are presented(AU)

An accessory extensor pollicis longus tendon: a case report of rare anatomical variant / Tendón accesorio del músculo extensor largo del pulgar: reporte de caso de una rara variación anatómica

SUMMARY: Variation in the morphology of the extensor pollicis longus muscle is very rare. The muscle is considered as one of the deep group of dorsal forearm muscles. It passes through the dorsal radiocarpal ligament in a detached compartment. It inserts at the base of the distal phalanx of the thumb. The muscle might have double tendons where they run either in one, or in separate compartments. In this study, we report an extremely rare condition for a 38-year-old male where some of the tendon fibers split at the base of the proximal phalanx and the two tendons insert at the sides of the base of the distal phalanx. We also noticed a high range of hyperextension where the action was painless and showed no sign of discomfort. We believe that the way the tendons get inserted might have a role in this wide range of extension.

RESUMEN: La variación en la morfología del músculo extensor largo del pulgar es muy rara. Es considerado perteneciente al grupo profundo de los músculos del dorso del antebrazo. Su tendón pasa a través del ligamento radiocarpiano dorsal en un compartimiento separado. Se inserta en la base de la falange distal del pulgar. El músculo puede tener tendones dobles que pasan a través de un solo compartimiento, o en compartimentos separados, del ligamento radiocarpiano dorsal. En este estudio se reporta una variación extremadamente rara en un hombre de 38 años de edad, donde algunas de las fibras del tendón se dividen en la base de la falange proximal y los dos tendones se insertaban a los lados de la base de la falange distal del pulgar. También observamos un alto grado de hiperextensión siendo la acción indolora y no mostrando ningún signo de malestar. Creemos que la forma en que los tendones se insertan podrían tener un papel en este amplio rango de extensión.

Reconstrução tardia na mão traumatizada com perda de múltiplos dedos / Late reconstruction of a traumatized hand with loss of multiple fingers

As lesões mutilantes de mão são um desafio para o cirurgião de mão e o paciente. O cirurgião deve tomar decisões desde o debridamento inicial, escolhendo quais dedos e articulações serão preservadas e uso apropriado das partes a serem retiradas. A reconstrução tardia é a segunda parte dessa difícil tarefa. Dificuldade que se atribui à particularidade de cada lesão, do grande número de possibilidades de tratamento e seus diversos níveis de complexidade que devem ser adequados à necessidade e motivação pessoal de cada paciente. Este relato de caso apresenta uma reconstrução tardia de mão com perda de indicador e dedo médio com transplante de articulação metacarpofalângica de indicador para função de interfalangeana proximal de dedo médio.

Mutilating hand injuries are a challenge to both the hand surgeon and the patient. The surgeon must make decisions ranging from the initial debridement to which fingers and joints will be preserved and the appropriate use of the parts to be removed. Late reconstruction constitutes the second part of this difficult task. The difficulty attributed to the characteristics of each lesion, the large number of treatment possibilities, and the different levels of complexity must be adapted to the personal needs and motivation of each patient. This case report describes a late hand reconstruction with index and middle finger loss, using metacarpophalangeal joint transplantation of the index finger to gain the proximal interphalangeal function of the middle finger.

Avaliação do tratamento da camptodactilia: análise retrospectiva de 22 pacientes, em um total de 39 dígitos

Camptodactilia é uma deformidade congênita caracterizada por uma postura em flexão na IFP, geralmente encontrada no dedo mínimo. Afeta aproximadamente 1% da população. A causa primária para esta deformidade é ainda motivo de discussão, não havendo consenso na literatura mundial. Se não for tratada haverá uma piora progressiva em cerca de 80% dos casos. Essa patologia, de aparência relativamente simples, não é fácil de ser tratada. O problema reside no fato da existência de várias formas de apresentação clínica, o que faz com que não haja um modelo único de tratamento efetivo. O objetivo deste estudo é avaliar, retrospectivamente, os resultados dos casos tratados no serviço de Cirurgia da Mão do INTO-MS-RJ, a partir de um protocolo pré estabelecido; e realizar uma análise crítica dos resultados alcançados, separando os casos em seus respectivos subgrupos. Foram avaliados 22 pacientes, num total de 39 dígitos, de janeiro de 2004 a dezembro de 2012. Relacionamos as estruturas anatômicas alteradas encontradas nos casos que foram submetidos a procedimento cirúrgico e seus resultados, tanto no tratamento conservador, como para os cirúrgicos, enfatizando suas principais indicações. Os resultados foram analisados pelo método de Sierget e col da clínica Mayo. Observamos que os casos de camptodactilia isolada do dedo mínimo na forma flexível, >60º, que foram submetidos a tratamento cirúrgico, de maneira uniforme apresentaram resultados excelentes. Nas formas rígidas, nossas observações indicam benefícios com ganho de extensão e correção da deformidade, entretanto o arco de movimento com flexão ativa na IFP é sempre parcial. Com o tempo de evolução alguns casos apresentaram alguma perda de ganho previamente alcançado, o que corrobora a permanente vigilância necessária no acompanhamento, com uso sistemático de órteses, até a fase final do crescimento esquelético.

Classification and Surgical Treatment of Symphalangism in Interphalangeal Joints of the Hand

BACKGROUND: Symphalangism is a rare congenital difference characterized by ankylosis of interphalangeal (IP) joints of the fingers and toes. In adults, there were several attempts to restore the stiff joints into mobile ones, but these treatment options resulted in poor outcomes and could not be applied to growing children. Here, we report our experiences on surgical treatment for children who had symphalangism of the hand. METHODS: We treated 36 joints in 17 children with symphalangism of the hand using dorsal capsulotomy and collateral ligament release. The diagnoses were based on history, physical examination, and simple radiographs. Affected fingers were classified according to our grading system. Simple compressive dressing was applied using Coban after surgery. Passive range of motion (ROM) exercise was started on day one or 2 postoperative, with the help of a hand therapist and patients' parents. The patients were prescribed passive ROM exercises for at least 2 hours a day over a period of 6 months. RESULTS: A single surgeon operated on 30 proximal IP joints, 3 distal IP joints, and 3 IP joints of the thumb. Twenty six joints were classified as grade I, and 10 as grade II. The ROM of affected joints, which was 7.8 +/- 8.1 (mean +/- SD) degrees preoperatively, increased to 46.8 +/- 18.6 degrees at final follow-up. The final ROM was significantly better in grade I joints, especially when the children had operations at ages 24 months or younger. CONCLUSIONS: Symphalangism of the hand in children, can be restored into a mobile joint by release of the collateral ligament, a dorsal capsulotomy, and postoperative physical therapy.

Classification and Surgical Treatment of Symphalangism in Interphalangeal Joints of the Hand

BACKGROUND: Symphalangism is a rare congenital difference characterized by ankylosis of interphalangeal (IP) joints of the fingers and toes. In adults, there were several attempts to restore the stiff joints into mobile ones, but these treatment options resulted in poor outcomes and could not be applied to growing children. Here, we report our experiences on surgical treatment for children who had symphalangism of the hand. METHODS: We treated 36 joints in 17 children with symphalangism of the hand using dorsal capsulotomy and collateral ligament release. The diagnoses were based on history, physical examination, and simple radiographs. Affected fingers were classified according to our grading system. Simple compressive dressing was applied using Coban after surgery. Passive range of motion (ROM) exercise was started on day one or 2 postoperative, with the help of a hand therapist and patients' parents. The patients were prescribed passive ROM exercises for at least 2 hours a day over a period of 6 months. RESULTS: A single surgeon operated on 30 proximal IP joints, 3 distal IP joints, and 3 IP joints of the thumb. Twenty six joints were classified as grade I, and 10 as grade II. The ROM of affected joints, which was 7.8 +/- 8.1 (mean +/- SD) degrees preoperatively, increased to 46.8 +/- 18.6 degrees at final follow-up. The final ROM was significantly better in grade I joints, especially when the children had operations at ages 24 months or younger. CONCLUSIONS: Symphalangism of the hand in children, can be restored into a mobile joint by release of the collateral ligament, a dorsal capsulotomy, and postoperative physical therapy.

Kirner's deformity misdiagnosed as fracture: a case report

Kirner's deformity or dystelephalangy is a rare entity which presents with painless, progressive, bilateral radiovolar curving of the terminal phalanges of the little fingers. It is a clinicoradiological diagnosis. Herein, we present a case where the patient was being treated as having a fracture of the distal phalanx because of misdiagnosis of Kirner's deformity. Given the rarity of the deformity, we believe it useful to present our case report as a contribution to the literature

Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads. These findings are similar to those previously described in the Bart-Pumphrey syndrome, a rare autosomal dominant disorder. Several conditions including keratoderma and deafness are briefly reviewed

Almohadillas articulares / Knuckles pads

Paciente de 29 años de edad, quien presenta desde el nacimiento almohadillas articulares interfalángicas proximales y distales en los pies. Se intenta tratamiento con infiltraciones locales de esteroides, pero la paciente decide abandonar las mismas por el dolor que éstan le producen. Se hace además una revisión de los trabajos ya publicados

Camptodactilia: informe de 14 pacientes con 15 dedos operados con la técnica de Millesi / Comptodactily: report of 14 cases with 15 fingers, surgically treated by the Millesi technique

Se presenta un estudio retrospectivo de 17 años de camptodactilia; 14 casos del sexo femenino con 15 dedos. Correspondieron al tipo congénito 12 y dos al adolescente. La deformidad encontrada fue moderada en 12 dedos y severa en tres. A todos se les efectuó la técnica descrita por Millesi en 1968. La valoración de resultados se basó en la clasificación de Cooney en 1991. Se obtuvieron resultados buenos en 14 dedos y pobres en uno, a quien se le hizo liberación del ligamento cápsulo-palmar y alargamiento del flexor produndo. En todos los dedos se encontró anormalidad en la inserción del lumbrical como está descrito en la literatura mundial. Esta deformidad representa un desequilibrio entre las fuerzas palmares flexoras y las fuerzas extensoras dorsales a nivel de la articulación interfalángica proximal del dedo, debido a la pérdida de fuerza de los músculos intrínsecos.