Surgical Treatment of Camptodactyly with Malek Cutaneous Approach and Stepwise Release: A Retrospective Multi-centre Study.

Background: Clinical manifestations of camptodactyly are varied and no official consensus on the etiopathogenesis or best treatment is available. Conservative treatment is generally preferred and, in refractory patients, surgery might be considered. However, reported results of surgery are often unsatisfactory and it is difficult to compare outcomes as different classification systems are adopted. We reported the outcomes of surgical treatment of camptodactyly with the Malek cutaneous approach and stepwise release, assessed using the Siegert classification. Methods: A retrospective analysis of paediatric patients (≥1 and ≤18 years) with congenital camptodactyly refractory to conservative management (flexion contracture >30°), treated with Malek cutaneous approach and stepwise release surgery between June 2009 and June 2019 with at least 1 year of follow-up was performed. Pre- and post-operative clinical and radiographic assessments were evaluated for degrees of flexion contractures and early (<30 days) or late (>30 days) complications were recorded. Results: A total of 59 patients underwent surgery, of whom 38 (64%), including 42 fingers, were enrolled; mean patient age was 8 years (range 1-18). Post-operative mean flexion contracture was significantly improved (p > 0.001) and no infections were recorded. Mean follow-up was 6 years (range 1-10) and proximal interphalangeal joint extension deficits were rated according to Siegert classification as excellent (69%), good (12%), or fair (9.5%) and poor (9.5%). Conclusions: The Malek cutaneous approach and stepwise release of the retracting soft tissues allow prompt evaluation of the anatomical structures involved in the deformity and seem to be an effective surgical correction in the long term. Level of Evidence: Level IV (Therapeutic).

Delayed-Onset NOG Gene-Related Syndromic Conductive Deafness: A Case Report.

We report a 6-year-old girl with progressive bilateral conductive hearing loss for 2 years. She passed the newborn hearing screening conducted with otoacoustic emissions testing and had a normal development of speech and language, which indicated that her deafness was delayed-onset. She also had congenital proximal interphalangeal joints. Proximal symphalangism was confirmed by genetic testing (NOG gene: c.406C > T, p.R136C). Bilateral stapes ankyloses were proved by surgery and her hearing was improved after stapedotomy by over 30 dB. Besides, this case should remind clinicians to carefully distinguish NOG gene-related deafness from congenital ossicular malformation and pediatric otosclerosis.

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.

Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by ankylosis of the proximal interphalangeal joints of fingers, carpal and tarsal bone fusion, and conductive hearing loss in some cases. Herein, we clinically diagnosed a Chinese patient with fusions of the bilateral proximal interphalangeal joints in the 2-5 digits without conductive hearing loss. Family history investigation revealed that his mother and grandfather also suffered from SYM1. Whole exome sequencing was performed to detect the genetic lesion of the family. The candidate gene variants were validated by Sanger sequencing. By data filtering, co-segregation analysis and bioinformatics analysis, we highly suspected that an unknown heterozygous frameshift variant (c.635_636insG, p.Q213Pfs*57) in NOG was responsible for the SYM1 in the family. This variant was predicted to be deleterious and resulted in a prolonged protein. This finding broadened the spectrum of NOG mutations associated with SYM1 and contributed to genetic diagnosis and counseling of families with SYM1.

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.

Multiple digit camptodactyly caused by anomalous ulnar sided flexor digitorum superficialis insertions.

We report an anomalous insertion of the flexor digitorum superficialis (FDS) tendon causing multiple digit camptodactyly. The abnormal tendon was present in the ring and middle fingers, passing from the FDS tendon (proximal to the proximal interphalangeal-PIP-joint) to the extensor expansion (distal to the PIP joint). It was present on the ulnar aspect only, with no corresponding structure on the radial side. Division of the anomalous insertion corrected the fixed flexion deformity at the PIP joint. This anomaly has not been reported in clinical or cadaveric studies and could have been overlooked if a volar approach had been used.

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

BACKGROUND: Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at least two types of proximal symphalangism have been identified in the clinic. One is proximal symphalangism-1A (SYM1A), which is caused by genetic variants in Noggin (NOG), another is proximal symphalangism-1B (SYM1B), which is resulted from Growth Differentiation Factor 5 (GDF5) mutations. CASE PRESENTATION: Here, we reported a Chinese family with symphalangism of the 4th and/or 5th finger and moderate deafness. The proband was a 13-year-old girl with normal intelligence but symphalangism of the 4th finger in the left hand and moderate deafness. Hearing testing and inner ear CT scan suggested that the proband suffered from structural deafness. Family history investigation found that her father (II-3) and grandmother (I-2) also suffered from hearing loss and symphalangism. Target sequencing identified a novel heterozygous NOG mutation, c.690C > G/p.C230W, which was the genetic lesion of the affected family. Bioinformatics analysis and public databases filtering further confirmed the pathogenicity of the novel mutation. Furthermore, we assisted the family to deliver a baby girl who did not carry the mutation by genetic counseling and prenatal diagnosis using amniotic fluid DNA sequencing. CONCLUSION: In this study, we identified a novel NOG mutation (c.690C > G/p.C230W) by target sequencing and helped the family to deliver a baby who did not carry the mutation. Our study expanded the spectrum of NOG mutations and contributed to genetic diagnosis and counseling of families with SYM1A.

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

BACKGROUND: Proximal symphalangism (SYM1; OMIM 185800), also called Cushing's symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal joints in the hands and feet. METHODS: We recruited a four-generation Chinese non-consanguineous family with SYM1. We examined their hands and feet using X-rays to confirm fusion of proximal interphalangeal joints. We evaluated their audiology using standard audiometric procedures and equipment. Then, we identified genetic variants using whole exome sequencing and validated mutations using Sanger sequencing. Mutation pathogenicity was analyzed with bioinformatics. RESULTS: Radiographs revealed proximal-joint fusion of fingers and toes in the patients. Two elderly individuals (II:1 and II:4) exhibited slight hearing loss. Additionally, we detected a novel heterozygous missense mutation in exon 1 of NOG (NM_005450) c.124C > T, p.(Pro42Ser) in all patients. This c.124C > T mutation is highly conserved across multiple species and the p.(Pro42Ser) variation is potentially highly pathogenic. CONCLUSION: Our results suggest that heterozygous c.124C > T, p.(Pro42Ser) in NOG is a novel mutation that causes human SYM1 phenotype.

Scar overlapping suture for treating chronic tendinous mallet finger in children.

PURPOSE: To evaluate the effect of scar overlapping suture for treating chronic tendinous mallet finger deformity in children. METHODS: Six patients younger than 18 years were investigated retrospectively. The active extensor lags of the distal interphalangeal joint (DIPJ) were all more than 40°, and the passive ranges of DIPJ motion were normal. They were all treated surgically by scar overlapping suture technique, featuring careful overlapping suture of the extensor scar and temporary transarticular Kirschner wire fixation of the DIPJ. RESULTS: Average follow-up was 3.1 years (ranging from 2 to 5 years). All patients made significant improvement in DIPJ activity. Three patients achieved full active DIPJ extension, whereas one patient had a 10° extensor lag and two patients had 5° extensor lags. All patients achieved normal active flexion ranges and full passive motion ranges of DIPJ compared with their uninjured side. There was no bone dysplasia, pain, or deformity recurrence. CONCLUSIONS: Scar overlapping suture for treating chronic tendinous mallet finger in children is safe and effective. According to the Crawford criteria, all patients were graded as excellent.

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)

Unravelling the NERDS syndrome.

A 22-year-old man presented with symmetric polyarthritis, pruritus and deviation of angle of mouth to the right side since the last 7 years. His symptoms were persistent despite receiving ayurvedic medications and symptomatic therapy. Examination revealed dry skin, cutaneous nodules, xanthelasma, periarticular non-tender swellings, pitting oedema of hands and feet and lower motor neuron type right facial palsy. Haematological investigations revealed eosinophilia and skin biopsy had cutaneous eosinophilic infiltration. The constellation of above findings comprises the nodules, eosinophilia, rheumatism, dermatitis and swelling syndrome. It a rare syndrome with few reported cases in literature. The patient was started on oral corticosteroids which was subsequently tapered and methotrexate therapy. His polyarthritis and skin rashes resolved with therapy. He has been followed-up for 2 years and is presently asymptomatic for the last 1 year.

Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication.

Papillorenal syndrome (PRS), an autosomal dominant inherited condition, is clinically featured by renal hypoplasia and optic nerve dysplasia. Based on current knowledge of genotype-phenotype correlations in PRS, mutations in the Paired box 2 (PAX2) gene have been recognized as a critical pathogenesis of typical renal and optic disease manifestations. However, little information is currently available on the skeletal abnormalities of PRS and the potential contribution of PAX2 mutations. Here, we present a case of a 10-year-old female PRS patient with the typical features of chronic renal failure and severe myopia, but was unexpectedly discovered camptodactyly of her left middle finger which affects the proximal interphalangeal joint. Pathologically, the camptodactyly was further indicated by radiology as a skeletal deformity, demonstrating a decline of bone mineral density and disappearance of joint space. Molecular diagnostics revealed a heterozygous mutation, 220_225dup, in the exon 3 of her PAX2 gene, which is de novo considering the lack of this mutation in her non-consanguineous parents. This mutation leads to duplication of glutamic acid at position 74 and tyrosine at position 75 in PAX2 protein, which may influence the DNA-binding function. Besides, the absence of Spalt like transcription factor 4 (SALL4) mutation excluded the diagnosis of acro-renal-ocular syndrome (AROS), of which clinical characteristics are similar to our patient's. This case unravels a previously unrecognized phenotype of camptodactyly due to a significant skeletal deformity of PRS with a heterogeneous PAX2 mutation of hexanucleotide duplication. This report challenges against the current belief of genotype-phenotype correlations in PRS.

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.

Volar Tenodesis for the Treatment of Swan-neck Deformity; A Systematic Review.

BACKGROUND: Swan-neck deformity is a common problem particularly in patients with Rheumatoid arthritis. Mobile swan-neck deformities (Nalebuff types I,II) can be treated non-operatively and operatively. In this paper we report on a systematic review of the treatment of swan-neck deformities with volar tenodesis. METHODS: We performed a literature search and analysed the literature according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Only eight papers were eligible. None was of high quality. The data reporting was very variable. Therefore, no meta-analysis could be performed, but only a descriptive analysis. RESULTS: The techniques work in preventing proximal inter-phalangeal joint hyperextension between 60 and 100% in these studies. There appears to be some recurrence of hyper-extension with time so that papers with longer follow-up tend to have poorer results. CONCLUSIONS: There is no good evidence that one technique is superior to another. The choice of technique is likely to remain based on surgeon preference for the foreseeable future. Future studies should be at least comparative and preferably part of a trial.

Early Results of Surgical Management of Camptodactyly.

BACKGROUND: We hypothesize that surgery for moderate-to-severe camptodactyly (>50 degrees) results in modest gains in range of motion and improved digital position. METHODS: A retrospective analysis of patients undergoing surgery for camptodactyly at a tertiary children's hospital between 2000 and 2014 was performed. Surgery was indicated for patients with persistent, functionally limiting flexion contractures despite observation, therapy, and splinting. Data were collected on demographics, clinical history and presentation, nonoperative management, surgery, and clinical follow-up, focusing on range of motion at the involved joint. Total passive motion (TPM) and total active motion (TAM) at the proximal interphalangeal (PIP) joint was calculated at presentation, preoperative visit, first postoperative visit out of the cast, and last follow-up visit. Average postoperative follow-up was 1.4 years. RESULTS: In total, 31 digits in 22 patients were reviewed. There were 13 males; average age at surgery was 9.6 years. There were 7 type I (infantile), 8 type II (adolescent), and 7 type III (syndromic) patients. All cases involved the PIP joint; 55% involved the small finger. All patients underwent sequential release of contracted structures until maximal extension without compromising vascularity or joint stability was obtained. Z-plasty of the volar skin was performed in 68% of digits, flexor digitorum superficialis tenotomy in 77%, volar plate release in 58%, and collateral ligament release in 48%. All patients were casted postoperatively for an average of 31 days, and 71% of digits had temporary transarticular pin fixation. At initial presentation, mean TPM and TAM were 34 and 24 degrees, respectively. TPM and TAM were 32 and 19 degrees immediately preoperatively, 30 and 13 at the first postoperative visit, and 35 and 25 at the final follow-up. Furthermore, the position of PIP arc of motion was in a more extended position postoperatively. Average TPM arc of motion was from 50 to 82 degrees preoperatively and 28 to 63 degrees at final follow-up; average TAM arc of motion was 62 to 81 degrees preoperatively and 30 to 55 degrees at final follow-up. There were no clinically meaningful differences in results based on camptodactyly type, preoperative motion, or age at surgery. There were no cases of wound infection or dehiscence. Two patients with recurrent contractures opted for subsequent PIP arthrodesis. CONCLUSIONS: Total motion of the PIP joint was similar both preoperatively and postoperatively following surgical release of camptodactyly. However postoperatively, the digit was in a more extended position over this arc of motion. For patients with functionally limiting flexion contractures, surgical release may be beneficial by providing a more extended position, for improved digital release, hygiene, and esthetics. LEVEL OF EVIDENCE: Level IV.

Successful conservative treatment outcomes and clinical characteristics of congenital hypoplasia of the extensor tendon central slip.

Congenital hypoplasia of the extensor tendon central slip is a rare entity. This article describes the clinical characteristics in a series of 22 fingers in 16 patients (mean age: 10 months), and the outcomes of conservative treatment. Nine of 22 fingers were classified as slender or hypoplastic. Treatment with bracing was successful in 21 digits, resulting in full active extension of the proximal interphalangeal joint at a mean of 8.5 months after treatment. Bracing was unsuccessful in one digit, in which operative treatment resulted in a successful outcome. Some residual deformity was observed in ten fingers after a mean follow-up period of 2 years and 1 month. Congenital hypoplasia of the central slip can be treated successfully by the conservative hand bracing when worn with full compliance. Treatment time is extended by the infrequent application of the hand brace or in the case of hypoplastic slender fingers. LEVEL OF EVIDENCE: IV.

Pachydermodactyly: An Unknown Entity.

Pachydermodactyly is a rare benign disease that usually affects the dorsal skin and subcutaneous tissue of the proximal interphalangeal joints of the index, middle, ring, and little fingers; the thumb is usually spared. Hyperkeratosis on the dorsal side of the affected areas is common. We present a case of a 19-year-old man who was diagnosed with pachydermodactyly after evaluation of a painless, progressive swelling and hyperkeratosis at the proximal interphalangeal and distal interphalangeal joints of all fingers, bilaterally, for 6 years before presentation. Conservative treatment was prescribed and the patient remains asymptomatic. Given the benign and nonprogressive course of the disease, symptomatic treatment alone is all that is usually required.

Absent Ring Finger Flexor Digitorum Profundus Presenting as a Jersey Finger.

We report the case of a patient who presented with an apparent acute avulsion of the ring finger flexor digitorum profundus (FDP), or jersey finger. At surgery, the FDP to the ring finger was found to be absent; also absent were the lumbrical to the ring finger and the A5 pulley. Absence of the FDP was confirmed with postoperative imaging. Although absent profundus tendons have been previously reported, none have involved the FDP to the ring finger. However, various reports have described abnormal connections between the ring and little finger flexor tendons.