Hand Contractures Research Articles

Subcutaneous Ulnar Nerve Transposition

Cubital tunnel syndrome is one of the most common compression neuropathies affecting the upper extremity. Physical exam findings include loss of sensation, muscle weakness, and clawing of the fingers. More severe cases also show irreversible muscle atrophy, hand contractures, and loss of function. There are several approaches to treating cubital tunnel syndrome. Here, a subcutaneous anterior transposition was performed on this patient. The patient’s ulnar nerve subluxed upon elbow flexion and extension upon physical examination, which was a primary indication for choosing this surgical approach over other techniques. This procedure not only decompresses the affected nerve but also transposes the nerve anterior to the medial epicondyle so as to relieve strain on the nerve upon the full range of motion of the elbow.

Lipofilling as an Adjuvant Therapy for Postburn Grafted Hand: Functional and Aesthetic Outcome.

Background : Background: Fat transfer is widely used as an adjuvant therapy to achieve the deficiencies faced minor burning regeneration. Aim of the study: The study aimed to represent our experience with autologous fat grafting in improving hand function and cosmesis in cases that undergo skin grafts after burns to the hand dorsum. Patient and methods: A case series study where patients aged 16-60 with post-burn grafted hand contractures, evaluating functional and aesthetic outcomes after a single session of lipofilling; A case series study carried out from May 2019 to August 2020 on twenty patients with post-burn grafted hand contractures. All patients underwent autologous fat transfer to their burnt grafted hands. Hand function and cosmesis and Patients’ contentment were evaluated utilizing the Patient Observer Scar Assessment Scale. Results: Follow after lipofilling showed general improvement of the burnt hand. Regarding the assessment of hand function, there was a statistical development throughout the total active movement. Regarding the assessment of patient satisfaction, there were significant improvements in pain, itching, scar color, volume, stiffness, skin softening (P-value< 0.001 for all). Regarding the assessment of doctor opinion, vascularity, pigmentation, pliability, and pain relief were significantly improved (P-value<0.001) Conclusion: Lipofilling is an effective and safe adjuvant therapy to improve the hand's post-burn contractures and aesthetic appearance.

104 A Quality Improvement Project to Reduce Orthoses Complications

Abstract Introduction Anatomical structures of the hand are complex and delicate making hand burns particularly challenging to manage. Orthoses are a cornerstone treatment modality and unsuccessful therapeutic interventions can result in hand contracture and deformities, which can result in up to 95% impairment in upper extremity function. Therapists at our burn center have varying degrees of education and credentials, and we had noticed increased incidence of orthotic induced complications in the hand. The purpose of this QI project was to implement a formal protocol that provided guidelines around fabricating and fitting hand orthoses. Methods The protocol mandated that custom fabricated resting hand orthoses should be fabricated by a single CHT or co-fabricated by two (non-CHT) therapists. Orthoses were fabricated as indicated. Orthosis modifications and orthosis complications, defined as erythema and/or an orthotic induced partial-thickness injury to the volar second metacarpal head (index finger) were documented. For the purposes of our study, breakdown was limited to the index finger. These modifications and complication totals were compared to pre-implementation data. Any patient with missing data points was excluded. Results Seventy-seven patient hands were examined from 2016–2019. Prior to implementation of the protocol, erythema occurred with 23.4% (n=18) of orthoses and orthosis induced partial thickness injury was found in 11.7% (n=9) of cases. Post protocol implementation involved examination of 51 hands. Erythema occurred in just 2.0% of cases (n=1) and partial thickness injury in 3.9% of cases (n=2) This represents a decrease of 94.4% and 77.7%, respectively. Number of modifications was reduced by 40.9%, from 22 to 13. Conclusions Orthosis fabrication is a specialized therapy skill, requiring hands-on training and advanced anatomical knowledge. While orthotic fabrication is part of general therapy education, the depth and breadth of this education is limited by the clinical opportunities presented to each therapist. CHT’s have undergone rigorous study and testing to make them experts in orthosis management and can bolster skills in a burn therapy department. For therapists without this specialty certification, co-fabrication can also lead to improved outcomes, through real time peer review. Data from this QI project showed a statistically significant decrease in erythema and decrease in breakdown and number of modifications needed from utilization of either a CHT or two therapists when managing hand orthoses.

Hand contractures and skin nodules in a 66-year-old woman.

Hand contractures and skin nodules in a 66-year-old woman.

EXTREMELY RARE CASE OF SCLEROSING THYMOMA TYPE A WITH NEUROENDOCRINE/PARANEOPLASTIC FEATURES OF ISAAC MERTEN SYNDROME

SESSION TITLE: Medical Student/Resident Cardiothoracic Surgery Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: October 18-21, 2020 INTRODUCTION: Sclerosing thymoma is an extremely rare neoplasm with only 16 reported [documented] cases worldwide in literature till date. The patient in our case presented with Sclerosing thymoma WHO Type A as well as clinical findings suggestive of Isaac’s-Merten’s syndrome (Neuromyotonia). CASE PRESENTATION: The Patient is a 53-year-old Caucasian male former smoker who presented with worsening dyspnea on exertion, and productive cough onset two weeks prior to presentation. He also complained of unintentional weight loss, generalized weakness, and progressively worsening bilateral hand contractures over the last year. On physical examination, the patient was noted to have contracted fingers on both hands with impaired flexion and extension. CXR and CT chest findings were consistent with pneumonia and an incidental large anterior 11.1 cm and 8.4 cm necrotic mediastinal mass that enveloped the main pulmonary artery. CT guided biopsy was performed and the mass was found to be of thymic origin. Neoadjuvant chemotherapy and radiation therapy were administered outpatient for tumor shrinkage prior to resection. The patient later underwent complete thymectomy and wedge resection of the left lung upper lobe. Pathology and immunohistochemistry results confirmed definitive diagnosis of sclerosing thymoma WHO Type A pattern. DISCUSSION: Sclerosing thymoma is an extremely rare type of thymoma accounting for <1% of all thymomas with preoperative clinical presentations that are widely varied. Kuo reported the first two cases of sclerosing thymoma in 1994. The WHO histologic classification of thymomas in 2004 entails 5 subtypes A, A1, B1, B2 and B3. These main subtypes are distinguished from the other rare variants of thymoma (sclerosing, micronodular, metaplastic, microscopic and lipofibroadenoma). Till date, only 16 cases of this sclerosing variant have been reported in literature worldwide. Although previously considered benign, even low-grade thymomas with type A pattern are considered malignant per International Thymic Malignancy Interest Group (ITMIG) guidelines. Certain paraneoplastic syndromes including the Isaac’s-Merten’s syndrome (Neuromyotonia) have been reported in association with thymomas on literature review. Neuromyotonia also known as peripheral nerve hyperexcitability is characterized by muscle stiffness as evidenced by bilateral hand contractures in our patient. CONCLUSIONS: Thymomas are rare mediastinal tumors. Sclerosing thymoma WHO type A is a very rare variant with few cases reported. Careful follow up of patients with thymic tumors is recommended to detect any local recurrence or distant metastasis. Reference #1: Travis WD, Brambilla E, Müller-Hermelink HK. Thymomas. WHO Classification of Tumours: Pathology and Genetics of Tumours of the Lung, Pleura, Thymus and Heart. Lyon, France: IARC Press; 2004;146–71. Reference #2: Kuo T. Sclerosing thymoma—a possible phenomenon of regression. Histopathology 1994;25:289–91. DISCLOSURES: No relevant relationships by Sherif Badra, source=Web Response No relevant relationships by john Brock, source=Web Response No relevant relationships by Vivian Chukwurah, source=Web Response Stock Holder relationship with Sarepta Therapeutics Inc Please note: $20001 - $100000 Added 03/26/2020 by Manjesh Lingamurthy, source=Web Response, value=Stock Holder Stock Holder relationship with Sarepta Therapeutics Inc Please note: $20001 - $100000 Added 03/26/2020 by Manjesh Lingamurthy, source=Web Response, value=Stock Holder Removed 03/26/2020 by Manjesh Lingamurthy, source=Web Response No relevant relationships by Comfort Takang, source=Web Response No relevant relationships by Silvio Tanev, source=Web Response

Incidence of major complication following embolo-sclerotherapy for upper and lower extremity vascular malformations.

The current literature on the major complications of embolo-sclerotherapy of upper and lower extremity vascular malformations is scarce. Evaluating and understanding the rates and types of potential major complications of embolo-sclerotherapy of vascular malformations help treatment planning and informed consent. Therefore, this study reviewed major complications following embolo-sclerotherapy of all upper and lower extremity vascular malformations in a single specialized multidisciplinary vascular malformation center over a 5-year period. All patients with vascular malformations underwent multidisciplinary directed intervention. Demographic, procedural, follow-up, and complication data were collected prospectively in a dedicated database, and reviewed retrospectively. Major complications for upper and lower extremity vascular malformations from 1 January 2013 to 31 December 2017 were analyzed. All embolo-sclerotherapies of high-flow vascular malformations (HFVMs) were performed under selective catheter angiography and direct injection, but low-flow vascular malformations (LFVM) with direct injection only. Major complications were defined as any tissue or functional damage caused by direct injection, distal embolization, or tissue reaction. Seventy patients (median age of 25 years; 44 males and 26 females) had 150 embolo-sclerotherapy procedures for upper extremity vascular malformation. Of these, 28 patients had embolo-sclerotherapy for HFVM and 42 patients for LFVM; total 78 and 72 procedures, respectively. A total of 107 patients (median age of 26 years; 42 males and 65 females) had 160 embolo-sclerotherapy interventions for lower extremity vascular malformations. Of these, 18 patients had embolo-sclerotherapy for HFVM and 89 patients for LFVM; total of 30 and 130 procedures, respectively. The overall major complication rates following embolo-sclerotherapy of upper and lower extremity vascular malformations were 14.3% and 4.7%, respectively (P = 0.030). In the upper extremity HFVM group, major complications from embolo-sclerotherapy occurred in five patients; three ischemic fingers requiring amputation and two skin ulcerations. Meanwhile, in the upper extremity LFVM group, major complications occurred in five patients; one median nerve injury requiring nerve grafting and hand therapy, one hand contracture requiring tendon release, and three skin ulcerations. There was only one major complication, which was cellulitis in the lower extremity HFVM group. In the lower extremity LFVM group, major complications occurred in four patients; two skin ulcerations, one cellulitis, and one deep vein thrombosis. Embolo-sclerotherapy is relatively safe for upper and lower extremity vascular malformations in a high-volume experienced center where our major complication rates were 14.3% and 4.7%, respectively, which compare favorably or similar to those reported in most recent literature. These outcomes will direct treatment strategies to avoid local and systemic toxic complications in the upper and lower extremity, for both HFVM and LFVM, and to improve informed consent.

Multicentric Reticulohistiocytosis in a Patient with Hand Contracture.

Multicentric Reticulohistiocytosis in a Patient with Hand Contracture.

Reconstruction of postburn contractures due to tandir oven

The aim of the study was to evaluate postburn contracture reconstructions caused by high temperature such as tandir. The records of our 58 patients who were operated for burn contracture between 2008 and 2018 were retrospectively reviewed. Duration elapsed after the burn, localization of contracture, surgery applied, and the recurrence rates were recorded. McCauley classification was used to evaluate the severity of hand contractures. One hundred and thirty-seven contracture release operations were performed in 45 hands in 40 cases. Five patients had bilateral hand contractures. One hundred and sixty-three (84.9%) surgeries out of total 192 contracture release surgery were applied to the hand and foot region. FTSG alone was the most common method of treatment. Z-plasty was used the most frequently by our team as the flap surgery. Tissue damage is more severe due to very high temperature of the tandir and as a result, more frequent and heavier burn contracture occurs on hands and feet than other burn etiologies develops, and reconstructive operations are needed more frequently.

Simultaneous presentation of malignant acanthosis nigricans and palmar fasciitis with polyarthritis syndrome in a patient of ovarian neoplasm: A rare manifestation

Malignant acanthosis nigricans (MAN) is a paraneoplastic dermatosis associated most commonly with an underlying intra-abdominal malignancy. It may manifest either with or before the development of the malignancy prompt diagnosis of such paraneoplastic syndrome is often instrumental in early diagnosis of occult malignancy. Palmar fasciitis and polyarthritis syndrome is a rare disease characterized by palmar fasciitis, symmetric synovitis of the hands, fibrosis, and flexion contractures. We present a case of a 48-year-old female who presented with complaints of bilateral contracture of hands with diffuse hyperpigmentation over body folds, face, and trunk suggestive of MAN. On investigation, she was found to have ovarian carcinoma. The hand contracture was thought to be due to palmar fasciitis with polyarthritis syndrome. The patient underwent total abdominal hysterectomy with bilateral total salpingo-oophorectomy with subtle improvement in acanthosis nigricans.

Funtional tenodesis as a predictor of functional outcome in patients with cervical tetraplegia

To determine the value of functional tenodesis (FT) of the hand as a predictor of the degree of disability in patients with cervical tetraplegia (CT) at different periods after a spinal injury. We examined 190 patients (79% - men) with CT (92.5% of cases of traumatic origin) at the age of 27 [21.0; 36.0] years with a neurological level of CІІІ-DІ, and a share of complete motor damage (A - B according to AIS) 70%. The examination included determination of neurological, motor levels and completeness of spinal cord injury (according to ISNSCI), assessment of functional independence (FIM motor domain), FT of the hand, and the severity of contractures of the joints of the hand. Using logit-regression analysis, creation of contingency tables, ROC analysis, depending on the timing of spinal injury, 4 classification models were studied: Disease duration less than 6 months, assessment of the functional outcome 6 months after spinal injury (model A); disease duration less than 6 months, assessment after 12 months (model B); disease duration less than 12 months, assessment after 12 months (model C); disease duration more than 12 months, evaluation after more than 12 months (model D, primary one). FT developed in the first 6 months after spinal injury in 12 (24%) patients, in 6-12 months - in 15 patients (20%), in more than 12 months - in 1 (less than 1%) patient. The incidence of joint contractures of the hand in group A (20%) and C (24%) did not have a statistical difference (χ2=0.22; p=0.64). Hand contractures in the first 6 months were observed in 20% of patients, in the first 12 months - in 24%, more than 12 months after spinal injury - in 28% of patients. In model A, the FT sensitivity was 80%, specificity was 64%, AUC - 0.65; in model B - 85%, 36%, 0.36, respectively; in model C (log-regression χ2=19.1; p was not determined) - 69%, 100%, 0.59, respectively; in model D (log-regression χ2=55.3; p was not determined) - 65%, 100%, 0.71, respectively. FT and contracture of the joints of the hand form during the first year after the debut of CT. As a predictor of a pronounced limitation of self-care, the sensitivity of FT in the first 6 months after spinal injury was 80-85%, in the later period, the specificity of FT was 100%, and sensitivity was 65-69%; in general, the predictive power of FT was low (AUC 0.36-0.71) and increased with the assessment of the functional outcome in the period of more than 12 months after the injury.

Surgical Management of Post Burn Hand Deformities.

Objective:To evaluate the efficacy of different surgical procedures on post burn contracture of hand.Methods:A quasi-experimental study design was conducted at the Department of Plastics and Reconstructive Surgery, Dow University of Health Science, DR. Ruth KM Pfau, Civil Hospital, Karachi, Pakistan from 1st June 2019 to 30th November 2019. Ninety-three participants of burned hand contracture of either gender, aged between 6- 60 years were included in the study. Resurfacing surgery with skin graft and loco-regional flaps were done according to type of contracture with individualization for each patient. All patients were kept under follow up for ninety days to assess efficacy of contracture release for each surgical procedure was noted. SPSS version 23 was used to analyse data.Results:Full thickness skin graft (FTSG) was performed in 60.2% cases, 17.2% with split thickness skin graft (STSG) and 12.9% with cross finger flaps. About 25% of recurrence was observed in cross finger flaps, whereas no recurrence was seen in Z-plasties and posterior interosseous flap. The significant association was between recurrence and surgical procedures (p<0.05).Conclusion:Z-plasty followed by FTSG was effective in the management of post burn contractures of hand.

Functional Reconstruction of Post-Burn Hand Contractures

Most patients who have survived severe burn injury may not have truly escaped the aftermath of severe scars which is post burn contractures. Hands are one of the most prevalent site of burn injury leading to contractures, which are important in terms of function and cosmesis. There is great deal of functional limitation, whereof contractures in both hands can make a burn survivor a total cripple. Moreover poor cosmetic result must also be considered as it gives impact towards patient’s self-esteem and quality of life. Treatment algorithm must be based on clinical presentation and severity of range of motion. Release of contracture, wound resurfacing and choice of reconstructive procedures must be based on timing of scar maturity as well as through a case-by case approach.

The clenched fist syndrome: case report of a clinical rarity of special interest for psychiatrists and hand surgeons

BackgroundThe Clenched Fist Syndrome (CFS) is a type of a psychiatric disorder, in which the patients show flexion finger contractures. Although no organic etiology can be identified, the syndrome in most cases presents with pain and paradoxical stiffness.Case presentationWe, herein, report the case of a 52-year old woman with a 6-month history of progressive hand flexion contracture and intermittent numbness in the first 3 fingers, mimicking carpal tunnel syndrome. On examination, all digits, including the thumb, were held in a tight flexion at the metacarpal and interphalangeal joints. Passive digital extension was painless in all fingers. Physical examination did not reveal any joint tenderness, joint or tendon sheath swelling. X ray was performed and did not show any abnormalities. Neurological examination did not reveal any organic etiology.ConclusionsCFS is believed to be a conversion disorder, i.e. unconsciously motivated and produced, whereas others consider it a factitious disorder, i.e. unconsciously motivated but consciously produced. Surgical treatment is not indicated, as it can worsen the symptoms. The related literature is discussed. We conclude that CFS should always be considered in patients with unexplainable flexion hand contractures, especially in the presence of a positive psychiatric history.

Needle aponeurotomy for dupuytren’s contracture of hand with extended physical therapy and serial intralesional steroid injections

Needle aponeurotomy for dupuytren’s contracture of hand with extended physical therapy and serial intralesional steroid injections

Surgical management of hand deformities in patients with recessive dystrophic epidermolysis bullosa

Recessive dystrophic epidermolysis bullosa (RDEB) is a congenital disease caused by a mutation in the COL7A1 gene and frequently results in hand contractures and pseudosyndactyly. Although multiple treatments exist that can improve the hand malformations, there are currently still no radical cures for this disease because of its high recurrence rate. The present study reports our experiences on how to improve hand deformities in 11 RDEB patients with surgical management and postoperative skin dressings. Hand function was substantially improved after complete release of pseudosyndactyly and achievement of favorable digital web spaces. Patients were followed up for two years, and nine of which showed slight decrease in hand function characterized by re-narrowed web spaces, digit adhesion and flexed metacarpophalangeal (MP) and interphalangeal (IP) joints, while the last two patients underwent hand reoperation one year after their initial surgery because of recurrence. In conclusion, our results show that surgical correction followed by skin dressing changes is an effective approach to improving mitten-hand malformations in RDEB patients.

Ultrasound findings in finger flexor tendons in systemic sclerosis: A cross-sectional pilot study.

Finger flexion contractures are an important cause of disability in patients with systemic sclerosis; however, their pathophysiology is poorly understood. Our aim was to assess the feasibility of scanning finger flexor tendons in patients with systemic sclerosis and explore the ultrasound findings in these tendons, including measurement of finger flexor tendon complex. Grey-scale and power Doppler ultrasound assessment of the finger flexor tendon complex including tendon structure and surrounding soft tissue. Measurements of the finger flexor tendon complex (A1 pulley, tendon and palmar plate) were made. Feasibility was assessed by the number of fingers which could be measured. We studied the second to fifth flexor tendons (n = 160) of both hands in 20 patients with systemic sclerosis, including early and established disease. We were able to assess the finger flexor tendon complex and make measurements of the flexor tendon and palmar plate in all (n = 40) and A1 pulley in almost all (n = 39) of the studied fingers. Common pathologies identified included peritendinous (n = 12) and soft tissue (n = 8) calcification. Tendon thickening was seen in six patients, but synovitis/tenosynovitis was rare. The A1 pulley was thickened in patients with systemic sclerosis (0.46 mm), in particular, those with diffuse cutaneous systemic sclerosis (0.50 mm). We were able to successfully assess, including making measurements of, the finger flexor tendon complex in patients with systemic sclerosis. Our study showed calcifications in the peritendinous areas and soft tissue and thickening of the A1 pulley. These findings may play a role in the pathophysiology of systemic sclerosis-hand contractures by causing mechanical impingement of the finger flexion mechanism. This pilot study will guide future research to look for potential (treatable) causes of finger flexion contractures in patients with systemic sclerosis.

Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study.

Clinical diagnosis of multiple system atrophy is challenging and many patients with Lewy body disease (i.e. Parkinson's disease or dementia with Lewy bodies) or progressive supranuclear palsy are misdiagnosed as having multiple system atrophy in life. The clinical records of 203 patients with a clinical diagnosis of multiple system atrophy were reviewed to identify diagnostic pitfalls. We also examined 12 features supporting a diagnosis of multiple system atrophy (red flag features: orofacial dystonia, disproportionate antecollis, camptocormia and/or Pisa syndrome, contractures of hands or feet, inspiratory sighs, severe dysphonia, severe dysarthria, snoring, cold hands and feet, pathological laughter and crying, jerky myoclonic postural/action tremor and polyminimyoclonus) and seven disability milestones (frequent falls, use of urinary catheters, wheelchair dependent, unintelligible speech, cognitive impairment, severe dysphagia, residential care). Of 203 cases, 160 (78.8%) were correctly diagnosed in life and had pathologically confirmed multiple system atrophy. The remaining 21.2% (43/203) had alternative pathological diagnoses including Lewy body disease (12.8%; n = 26), progressive supranuclear palsy (6.4%; n = 13), cerebrovascular diseases (1%; n = 2), amyotrophic lateral sclerosis (0.5%; n = 1) and cerebellar degeneration (0.5%; n = 1). More patients with multiple system atrophy developed ataxia, stridor, dysphagia and falls than patients with Lewy body disease; resting tremor, pill-rolling tremor and hallucinations were more frequent in Lewy body disease. Although patients with multiple system atrophy and progressive supranuclear palsy shared several symptoms and signs, ataxia and stridor were more common in multiple system atrophy. Multiple logistic regression analysis revealed increased likelihood of multiple system atrophy versus Lewy body disease and progressive supranuclear palsy if a patient developed orthostatic hypotension or urinary incontinence with the requirement for urinary catheters [multiple system atrophy versus Lewy body disease: odds ratio (OR): 2.0, 95% confidence interval (CI): 1.1-3.7, P = 0.021; multiple system atrophy versus progressive supranuclear palsy: OR: 11.2, 95% CI: 3.2-39.2, P < 0.01]. Furthermore, autonomic dysfunction within the first 3 years from onset can differentiate multiple system atrophy from progressive supranuclear palsy (multiple system atrophy versus progressive supranuclear palsy: OR: 3.4, 95% CI: 1.2-9.7, P = 0.023). Multiple system atrophy patients with predominant parkinsonian signs had a higher number of red flag features than patients with Lewy body disease (OR: 8.8, 95% CI: 3.2-24.2, P < 0.01) and progressive supranuclear palsy (OR: 4.8, 95% CI: 1.7-13.6, P < 0.01). The number of red flag features in multiple system atrophy with predominant cerebellar signs was also higher than in Lewy body disease (OR: 7.0, 95% CI: 2.5-19.5, P < 0.01) and progressive supranuclear palsy (OR: 3.1, 95% CI: 1.1-8.9, P = 0.032). Patients with multiple system atrophy had shorter latency to reach use of urinary catheter and longer latency to residential care than progressive supranuclear palsy patients, whereas patients with Lewy body disease took longer to reach multiple milestones than patients with multiple system atrophy. The present study has highlighted features which should improve the ante-mortem diagnostic accuracy of multiple system atrophy.

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

BackgroundMyopalladin (MYPN) is a component of the sarcomere that tethers nebulin in skeletal muscle and nebulette in cardiac muscle to alpha-actinin at the Z lines. Autosomal dominant MYPN mutations cause hypertrophic, dilated, or restrictive cardiomyopathy. Autosomal recessive MYPN mutations have been reported in only six families showing a mildly progressive nemaline or cap myopathy with cardiomyopathy in some patients.Case presentationA consanguineous family with congenital to adult-onset muscle weakness and hanging big toe was reported. Muscle biopsy showed minimal changes with internal nuclei, type 1 fiber predominance, and ultrastructural defects of Z line. Muscle CT imaging showed marked hypodensity of the sartorius bilaterally and MRI scattered abnormal high-intensity areas in the internal tongue muscle and in the posterior cervical muscles. Cardiac involvement was demonstrated by magnetic resonance imaging and late gadolinium enhancement. Whole exome sequencing analysis identified a homozygous loss of function single nucleotide deletion in the exon 11 of the MYPN gene in two siblings. Full-length MYPN protein was undetectable on immunoblotting, and on immunofluorescence, its localization at the Z line was missed.ConclusionsThis report extends the phenotypic spectrum of recessive MYPN-related myopathies showing: (1) the two patients had hanging big toe and the oldest one developed spine and hand contractures, none of these signs observed in the previously reported patients, (2) specific ultrastructural changes consisting in Z line fragmentation, but (3) no nemaline or caps on muscle pathology.

Microcephalic Newborn with Forehead Nevus Flammeus, Bulging Eyes, and Clenched Fists

A 35-day-old growth-restricted black female infant presents with a triangular head, glabellar nevus flammeus, exophthalmos, flexion contractures of hands, micro-retrognathia, and stridor (Fig, A and B). Figure. A. Glabellar nevus flammeus, exophthalmos, hypertelorism and triangular shaped head. B. Microretrognathia and anteverted nares. ### Prenatal and Birth Histories ### Presentation The infant was transferred to the NICU from an outside hospital at 1 month of age because of poor feeding, stridor, and multiple dysmorphic facial features. ### Vital Signs–Day 35 ### Physical Examination–Day 35

Predictors of Hand Contracture in Early Systemic Sclerosis and the Effect on Function: A Prospective Study of the GENISOS Cohort.

To identify baseline features that predict progression of hand contractures and to assess the effect of contractures on functional status in the prospective GENISOS cohort. Rate of decline in hand extension, as an indicator of hand contracture, was the primary outcome. We assessed longitudinal hand extension measurements, modified Health Assessment Questionnaire (MHAQ) score, Medical Outcomes Study Short Form-36 (SF-36) physical function score, and demographic, clinical, and serological variables. Subjects with ≥ 2 hand measurements at least 6 months apart were included. A total of 1087 hand measurements for 219 patients were available over an average of 8.1 ± 4.8 years. Hand extension decreased on average by 0.11 cm/year. Antitopoisomerase I antibody (ATA) positivity and higher modified Rodnan Skin Score (mRSS) were predictive of faster decline in hand extension (p = 0.009 and p = 0.046, respectively). In a subgroup analysis of 62 patients with ≤ 2 years from SSc onset, ATA and diffuse disease type were associated with faster decline in hand extension; anticentromere positivity was associated with slower rate of decline. Although the rate of decline in patients with disease duration ≤ 2 years was numerically higher, the difference was not statistically significant. Hand extension continued to decline in a linear fashion over time and was inversely related to overall functional status. ATA was predictive of contracture development in both early disease (≤ 2 yrs) and in the overall cohort. Hand extension declined linearly over time and was inversely associated with MHAQ and SF-36 scores. ATA positivity and higher baseline mRSS were predictive of faster decline in hand extension.