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Isolated postaxial polydactyly (I-PAP), as a single defect, is a frequent malformation, characterized by an extra digit placed on the ulnar or fibular side of the limbs. Worldwide prevalence varies from as high as 225/10,000 in Nigerians to so low as 6.08/10,000 in Argentinians. Genetic-ethnic background significantly affects worldwide prevalence and type of I-PAP. Herein we describe the epidemiological characteristics of I-PAP in 697 newborns, 383 males and 314 females identified in 1,178,993 examined live births from a multicenter case-control hospital-based population study, the Mexican program of Registry and Epidemiological Surveillance of Congenital Malformations (RYVEMCE). The main characteristics analyzed included total I-PAP, stratified in Types A and B, defined as complete or incomplete extra-digit formation, respectively, sex prevalence, affected limb, laterality, parity, prematurity, delivery-type, twinning, consanguinity, and parental age. Males (6.35/10,000) are significantly more frequently affected than females (5.45/10,000), hands more than feet, left more than right limbs, and Type B (74.50%) more than A (25.50%). Prematurity and forceps use were significantly more frequent in cases than controls. An evident decreasing time-trend prevalence was present. Similar findings with other studies were males, upper and left limbs more frequently affected. Findings that were not previously reported include prematurity, forceps use, a significant decreasing time trend and an inverse ethnic prevalence for Types A (75%) and B (25%) in the Mayan population in contrast to other worldwide ethnic groups., (© 2019 Wiley Periodicals, Inc.)

Osteoid osteoma is a benign tumor originating from osteoblasts, and it is mostly seen in long bones of lower limbs. The distal phalanx of the foot is an atypical location for an osteoid osteoma, and lesions occurring in this location may be a diagnostic challenge. A 22-year-old man presented with a complaint of severe pain on the second distal phalanx of his right foot. An osteoid osteoma was suspected after radiologic evaluation. The lesion was surgically excised and removed completely by curettage. Histopathologic evaluation confirmed the diagnosis of an osteoid osteoma. The patient was followed-up for a 9-month period without any symptoms or recurrence.

Background: Polydactyly is a common genetic limb deformity characterized by the presence of extra fingers or toes. This anomaly may occur in isolation (nonsyndromic) or as part of a syndrome. The disease is broadly divided into preaxial polydactyly (PPD; duplication of thumb), mesoaxial polydactyly (complex polydactyly), and postaxial polydactyly (PAP: duplication of the fifth finger). The extra digits may be present in one or both the limbs. Heterozygous variants in the GLI3, ZRS/SHH, and PITX1 have been associated with autosomal dominant polydactyly, while homozygous variants in the ZNF141, IQCE, GLI1, and FAM92A have been associated with autosomal recessive polydactyly. Pathogenic mutations in the GLI3 gene (glioma-associated oncogene family zinc finger 3) have been associated with both nonsyndromic and syndromic polydactyly., Methods: Here, we report an extended five generation kindred having 12 affected individuals exhibiting nonsyndromic postaxial polydactyly type A condition. Whole-exome sequencing followed by variant prioritization, bioinformatic studies, Sanger validation, and segregation analysis was performed., Results: Using exome sequencing in the three affected individuals, we identified a novel heterozygous frameshift variant (c.3567_3568insG; p.Ala1190Glyfs*57) in the transcriptional activator (TA2) domain of the GLI3 encoding gene., Conclusion: To the best of our knowledge, the present study reports on the first familial case of nonsyndromic postaxial polydactyly due to the GLI3 variant in Pakistani population. Our study also demonstrated the important role of GLI3 in causing nonsyndromic postaxial polydactyly., (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Objective: Hair tourniquet syndrome is an uncommon condition characterized by strangulation appendages by a hair or thread. The aim of this study was to evaluate the results of hair removal and antibiotic therapy in our patients with hair tourniquet syndrome., Methods: Between January 2012 and August 2018, 16 patients (8 boys, 8 girls; mean age: 118.5 [range: 20 to 380] days) were treated surgically for hair tourniquet syndrome. All patients were treated surgically under local or general anesthesia in the pediatric emergency department or in the operating theater using magnifying loupes. The age, gender, affected fingers or toes and the affected sides of the patients and the duration of symptoms until presentation were recorded., Results: A total of 24 toes and fingers were treated for hair tourniquet syndrome. The right side was affected in 12 patients, the left side was affected in three, and both sides in one. The second toe was affected in three patients, the third toe in eleven, the fourth in six, and the fifth in two patients. Both the thumb and the second finger were affected in one patient. The average duration of the symptoms (excessive crying, swelling, redness) was 1.5 (range: 1 to 2) days. All patients healed without any complications., Conclusion: Hair tourniquet syndrome should be kept in mind as an etiology in infants with toe and finger strangulation. These patients should be examined undressed. Immediate removal of hair is an effective treatment method to save appendage., Level of Evidence: Level IV, Therapeutic Study., (Copyright © 2019 Turkish Association of Orthopaedics and Traumatology. Production and hosting by Elsevier B.V. All rights reserved.)

Postaxial polydactyly (PAP) is a common limb malformation that often leads to cosmetic and functional complications. Molecular evaluation of polydactyly can serve as a tool to elucidate genetic and signaling pathways that regulate limb development, specifically, the anterior-posterior specification of the limb. To date, only five genes have been identified for nonsyndromic PAP: FAM92A, GLI1, GLI3, IQCE and ZNF141. In this study, two Pakistani multiplex consanguineous families with autosomal recessive nonsyndromic PAP were clinically and molecularly evaluated. From both pedigrees, a DNA sample from an affected member underwent exome sequencing. In each family, we identified a segregating frameshift (c.591dupA [p.(Q198Tfs*21)]) and nonsense variant (c.2173A > T [p.(K725*)]) in KIAA0825 (also known as C5orf36). Although KIAA0825 encodes a protein of unknown function, it has been demonstrated that its murine ortholog is expressed during limb development. Our data contribute to the establishment of a catalog of genes important in limb patterning, which can aid in diagnosis and obtaining a better understanding of the biology of polydactyly.

Polyarteritis nodosa is a progressive, often life-threatening, vasculitis affecting multiple organs, including the skin and peripheral nerves. We report a patient presenting with systemic features of the disease and with characteristic lesions in the feet 3 weeks after vaccination against hepatitis B virus infection.

Mesoaxial syndactyly is characterized by fusion of the central digits. The disorder segregates in autosomal recessive pattern and mapped on human chromosome 17p13.3. Homozygous missense mutations in the BHLHA9 have been reported to cause mesoaxial synostotic syndactyly with phalangeal reduction (MSSD). In the present study, we have investigated a family segregating mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) in autosomal recessive manner. Genotyping using microsatellite markers followed by Sanger sequencing revealed a homozygous deletion and insertion mutation (NM_001164405: c.252_270delinsGCA; p.(Phe85Glufs*108)) in the BHLHA9 gene in affected individuals of the family. This study reports the first frameshift mutation in the BHLHA9 causing mesoaxial synostotic syndactyly and phalangeal reduction., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)

A 62-year-old man with no pertinent medical history presented with lower extremity weakness and worsening distal fingertips and toe cyanosis/gangrene. In the outpatient setting, he was initially being treated for Raynaud's phenomenon with a calcium channel blocker. On presentation, the patient had elevated inflammatory markers and white blood cell count. Serum vasculitis panel (proteinase-3 antibody) supported the diagnosis of granulomatosis with polyangiitis. His hospital course was complicated by ischaemic stroke and a diagnosis of mononeuritis multiplex in his lower extremities. After initiating therapy with intravenous steroid and rituximab, his symptoms overall improved including cyanotic fingertips/toes. His inflammatory markers and leucocytosis also improved. Outpatient follow-up consisted of further rituximab infusions and unrelated umbilical hernia incarceration which required surgery. He was found incidentally to have subsegmental pulmonary emboli which most likely occurred during the initial presentation prior to his diagnosis. The patient moved out of state and was lost to follow-up., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Polydactyly is a common congenital anomaly of the hand and foot. Postaxial polydactyly (PAP) is characterized by one or more posterior or postaxial digits. In a Pakistani family with autosomal recessive nonsyndromic postaxial polydactyly type A (PAPA), we performed genomewide genotyping, linkage analysis, and exome and Sanger sequencing. Exome sequencing revealed a homozygous nonsense variant (c.478C>T, p.[Arg160*]) in the FAM92A gene within the mapped region on 8q21.13-q24.12 that segregated with the PAPA phenotype. We found that FAM92A is expressed in the developing mouse limb and E11.5 limb bud including the progress zone and the apical ectodermal ridge, where it strongly localizes at the cilia level, suggesting an important role in limb patterning. The identified variant leads to a loss of the FAM92A/Chibby1 complex that is crucial for ciliogenesis and impairs the recruitment and the colocalization of FAM92A with Chibby1 at the base of the cilia. In addition, we show that Fam92a -/- homozygous mice also exhibit an abnormal digit morphology, including metatarsal osteomas and polysyndactyly, in addition to distinct abnormalities on the deltoid tuberosity of their humeri. In conclusion, we present a new nonsyndromic PAPA ciliopathy due to a loss-of-function variant in FAM92A. © 2018 American Society for Bone and Mineral Research., (© 2018 American Society for Bone and Mineral Research.)

Rationale: Cervical cancer is one of the most common gynecologic malignancies worldwide, and it spreads mainly through direct extension. Distinct metastases are less common and usually spread to distant lymph nodes, lungs, and bones. Bone metastases from cervical cancer are most commonly observed in the pelvis and spine. Thus, a pathological toe fracture as the initial presentation of cervical cancer is extremely rare., Patient Concerns: We report a patient with a toe metastasis that first presented with pain caused by a pathological fracture., Diagnoses: The patient underwent surgery to remove the right great toe, and the histopathology revealed squamous carcinoma that originated from the cervix., Interventions: The patient then underwent cervical cancer surgery, chemotherapy, and radiotherapy., Lessons: A pathological toe fracture as the initial presentation of cervical cancer is extremely rare, but clinicians need to be aware that we should not exclude cancer when patients come to the hospital for pathological fractures.

Background: Digital mucous cysts (DMCs) are benign, translucent, fluid-filled asymptomatic, slow-growing, dome-shaped nodules overlying a joint or tendon sheath on the distal dorsal side of the fingers or, more rarely, on the toes. They are degenerative in nature and are often associated with interphalangeal joint arthritis. Although DMCs are usually solitary, multiple cysts have been observed to develop simultaneously. They can sometimes be painful, confer a reduction in motility, and cause weakness and deformity in the nails. Spontaneous regression is rare, and intervention using surgical or non-surgical treatment is advisable., Methods: We analyzed 53 DMCs of 51 patients treated in two Italian Dermatology Units between January 2004 and March 2015. The aim of this study was to evaluate the most salient clinical, histopathological and dermoscopic features, in addition to the response to treatment. We then compared the data to assess whether the histological type (ganglion-type or focal dermal mucinosis-type) or immunohistochemical phenotype of DMCs is correlated with the likelihood of relapse. All the patients have been treated with simple surgical excision with a cure rate of 72.6% at a mean recurrence time of 160 days with a mean follow-up of 3.6 years., Results: Histopathological examination, performed in 11 out of the 53 cysts, revealed 7 cases of ganglion-type cysts and 4 cases of focal cutaneous mucinosis-type cysts. No correlation was detected between histopathological type and recurrence., Conclusions: Digital dermoscopy confirmed the pattern recently reported in the literature, providing confidence in the clinical diagnosis and reducing the need for preoperative radiography or ultrasound imaging.

A 78-year-old woman visited her general practitioner with a sharply bounded white lesion of her toe. We diagnosed it as gouty tophus, which was confirmed by a high serum urate level. Gout is a chronic disease, characterised by deposition of monosodium urate crystals in joints and tissues. The preferable sites of gouty tophi are fingers, toes, knees, elbows, conchae and heels. Treatment of acute gout consists of NSAIDs, steroids or colchicine. Gouty tophi require lifelong urate-lowering treatment.

Background:: Magnetic resonance imaging (MRI) is both sensitive and specific in the diagnosis of osteomyelitis, and it is an important imaging modality in preoperative planning of resection of infected bone. In many cases, however, the extent of osseous infection is evident on plain radiographs, and little additional information is gained from the MRI. The goal of this study was to assess the accuracy of radiographs against MRIs in assessing the spread of suspected osteomyelitis from one phalanx to another or to a metatarsal., Methods:: A medical record review was performed, and 14 patients with 16 toes confirmed to have osteomyelitis involving one or more phalanges were included in the study. An investigator blinded to the MRI findings interpreted the extent of osseous involvement based solely on the radiographic and clinical presentation. The accuracy of the radiographic interpretation was then calculated against the MRI findings., Results:: In 14 of the 16 toes (87.5%), whether osteomyelitis had spread from one bone to another was determined based on the radiographic and clinical presentation. In one toe, the radiograph did not adequately depict osteomyelitis in adjacent infected bone. In one more toe, the radiograph depicted features of osteomyelitis in uninfected bone., Conclusions:: In a large percentage of patients, the phalanges affected by osteomyelitis had visible findings on the radiograph, and operative planning could have been based on the radiograph alone.

A 60-year-old man presented with a non-healing interdigital ulcer on the right foot. Various treatment regimens had no effect. Three months later, histopathological examination of a biopsy showed an acrolentiginous amelanotic melanoma. Partial foot amputation followed, but metastases were diagnosed several months later. If no improvement occurs in a benign-looking acral lesion, doctors should closely observe the lesion and consider biopsy.

Background: Guidelines recommend both histological analysis and culture for definite diagnosis of osteomyelitis. It is not clear if histological and culture criteria can be used interchangeably in the clinical scenario of toe amputation. We therefore prospectively compared the results of intraoperative culture and those of histological examination in this setting., Methods: Consecutive patients requiring toe or forefoot amputation at the University Hospital Basel during a 2-year period were included in the study. Biopsy specimens from the residual bone were cultured according to microbiological standards. Histological analysis was performed using standardized criteria for osteomyelitis. Clinical outcomes were assessed retrospectively via chart review., Results: Of 51 patients included in the study, 33 (65%) had a positive culture of residual bone and 14 (27%) showed histological signs of osteomyelitis. A negative histological result but a positive culture was found for 21 (41%) of the patients, suggesting that culture has a high false-positive rate if histological analysis is used as the reference to rule out osteomyelitis. The recommended criteria of both positive histological findings and positive culture were fulfilled by 12 (24%) of the 51 patients., Conclusions: Positive cultures of residual bone after forefoot or toe amputation overestimate the true rate of osteomyelitis as defined by histological analysis, presumably because of contamination from soft tissue at the time of surgery. Additional studies are needed to evaluate the indications for, and the duration of, antibiotic treatment according to these findings., Clinical Relevance: Our results cast doubt on the strategy of relying solely on culture of bone biopsy specimens when deciding whether antibiotic treatment for osteomyelitis is necessary after toe or forefoot amputation.

Background: Pigmented lesions on acral sites are common; clinical differentiation of nevi and early melanoma can be challenging. In these cases, dermoscopy can provide a more accurate diagnosis. Most dermoscopic patterns on acral skin have been described in Asian and European populations, while there are few studies in Latin American populations, Objectives: To determine the frequency of pigmented lesions in volar skin and their dermoscopic patterns in a Mexican population. Methods: An observational, descriptive, cross-sectional study was performed in Hispanic patients with the presence of at least one pigmented lesion on acral skin. Clinical and dermoscopic images were obtained. These were subsequently evaluated independently by two dermatologists trained and experienced in dermoscopy, Results: A total of 582 pigmented lesions on volar skin were diagnosed in 321 patients. Overall, prevalence of acral pigmented lesions on volar skin was 6.8%. For both observers, parallel furrows were the most frequent pattern described, but for observer 2, a lattice-like pattern was prevalent on the toes and a homogeneous pattern on the sides of the feet. There was lower inter-observer agreement, with a kappa index of 0.144, Study Limitations: The lesions were not biopsied, so clinical-histological correlation could not be performed. The study did not correlate dermoscopic patterns with age, Conclusions: As previously reported by other authors, parallel furrows were the most frequently found dermoscopic pattern on palmoplantar skin

CASE DESCRIPTION A 2.5-year-old 12-kg (26.4-lb) castrated male Miniature American Shepherd was referred because of a 3-week history of a localized crusted skin lesion on the digital pad of digit 3 of the right hind limb. CLINICAL FINDINGS Skin lesions were noted on the digital pads of the right hind limb. Serum biochemical analyses indicated severe hypercholesterolemia and hypertriglyceridemia. Ultrasonography of the terminal portion of the aorta and other major arterial vessels revealed substantial arteriosclerotic change. TREATMENT AND OUTCOME Medical treatments included administration of atorvastatin calcium, a low-fat diet, and omega-3 fatty acids to reduce serum lipids concentration; clopidogrel to prevent thrombosis; pentoxifylline to improve microcirculatory blood flow; clomipramine hydrochloride and trazodone hydrochloride to help with the behavioral problems; and gabapentin to help with pain management and behavioral problems. Surgical management included amputation of the initial digit involved, then eventually the entire initial limb involved. The response to treatment was poor, and euthanasia was elected. Postmortem findings revealed severe, widespread, and chronic intimal atherosclerosis; mild, widespread, and degenerative changes in the cerebral cortex; and edema and vascular congestion in the meninges. CLINICAL RELEVANCE To the authors' knowledge, this was the first report of skin necrosis secondary to atherosclerosis in a dog. Although the incidence of atherosclerosis has been considered very low in dogs, it should be investigated in dogs with severe hyperlipidemia. Primary hyperlipidemia has not been previously described in Miniature American Shepherd dogs but was the suspected underlying metabolic disorder.

Background: Fibrodysplasia ossificans progressiva (FOP), also known as Myositis ossificans progressiva or Munchmeyer's disease, is an extremely rare and disabling genetic condition of congenital skeletal malformations and progressive heterotopic ossification (HO). The disease is characterized by congenital skeletal anomalies and progressive ectopic bone formation in connective tissues such as ligaments, muscles and tendons. The disease has an incidence of about 1 in 2 million population., Case Details: We report a case of a 2-year and 8-month old male child with an initial diagnosis of soft tissue sarcoma based on fine needle aspiration (FNAC) of neck swelling., Conclusion: Fibroplasia ossificans progressive (FOP) characteristically manifests with bilateral malformation of the great toe and progressive heterotopic ossification (HO). Clinicians and radiologists should be aware of these to prevent permanent disability.

Context: Malignant melanoma is the third most common cause of cerebral metastases after breast and lung cancer. Despite advances in therapeutic options, the prognosis for patients with cerebral metastases from melanoma remains poor, with a median survival time of six months after diagnosis., Case Report: A 65-year-old woman was diagnosed with a malignant melanoma on the third toe of her left foot.The tumorous spot was excised surgically. However, the melanoma reappeared after one year and skin biopsy confirmed recurrence of malignant melanoma. Investigations showed metastasis to the left pelvic region, left lobe of the liver and right lobe of the lung.The patient then received chemotherapy. Subsequently, the patient was brought to the emergency department with an altered level of consciousness (Glasgow coma scale: 9) and hemiplegia on the right side of her body. Computed tomography scans of the brain revealed hemorrhagic lesions in the parieto-occipital lobes of the brain. Urgent surgical evacuation was done to remove the lesion, following which the patient showed improvement in her score on the Glasgow coma scale and a concomitant decrease in weakness. She was discharged from hospital with full consciousness.The patient died of acute renal failure 14 months after the brain surgery and approximately 4 years after the initial presentation of the case., Conclusion: This case outcome is rare and shows the effectiveness of surgery to treat cerebral metastasis from malignant melanoma in a situation with multisystem metastasis already present.

Background: Besides the natal cleft, a pilonidal sinus can also occur in other areas of the body. An uncommon place is the interdigital web space of the toes. A sinus can arise due to penetration of the skin by a hair. The only curative treatment is surgical excision., Case Description: A 55-year-old man was referred by the GP with an inflammation between his toes. On physical examination we saw a skin defect with hairs and granulation tissue between the fourth and fifth toes of the right foot. It was decided to surgically excise the affected area. Histopathological examination showed a chronical, fibrosing inflammation surrounding a free hair structure, consistent with a pilonidal sinus. The lesion was probably caused by dog hairs, in combination with poor personal hygiene., Conclusion: This patient had a pilonidal sinus at an uncommon site. In the event of poorly-understood inflammation between the toes, a pilonidal sinus should be considered.

Aim We aim to compare the outcome of diabetic patients with gangrenous toes who were managed initially either by digital amputation or by transmetatarsal amputation. The null hypothesis is that transmetatarsal amputation had less theatre trips and better healing. Materials and Methods A parallel observational comparative study of all diabetic patients who underwent either digital or transmetatarsal amputation in a tertiary referral center from 2002 through 2015. Comorbid conditions, subsequent amputations, hospital stay, and readmission were noted. Results A total of 223 patients underwent minor amputation during the study period, of which 147 patients were diabetic and 76 patients were non-diabetic. Seventy-seven patients had digital amputation and 70 transmetatarsal amputation in diabetic patients. Demographics were similar in both groups. The median time to major amputation was (400 ± IQR 1205 days) in the digital amputation group, compared to 690 ± IQR 891 days in the transmetatarsal amputation group ( P = 0.974). 29.9% of digital amputations and 15.7% of transmetatarsal amputations in diabetic patients, required minor amputations or revision procedures ( P = 0.04). Median length of hospital stay was (20 days, IQR 27) in the digital group and (17 days, IQR17) in the transmetatarsal amputation group ( P = 0.17). Need for re-admission was 48.1% in digital patients compared to 50% in transmetatarsal amputation patients ( P = 0.81). Quality of time spent without symptoms of disease or toxicity of treatment (Q-TWiST) was (315 days, IQR 45) in digital group and (346 days, IQR 48) in the transmetatarsal amputation patients ( P = 0.099). Conclusion Despite the lack of statistical significance, transmetatarsal amputation offered better outcome in the diabetic patients, with less re-intervention rate, shorter hospital stays, less theatre trips, and longer time without toxicity (TWiST).

Objective: To explore clinical effect of minimally corrective osteotomy for the treatment of hallux valgus with deformity of little toe varus through small incision., Methods: From January 2013 to June 2016, 168 hallux valgus patients with deformity of little toe varus were treated by minimally corrective osteotomy through small incision. Among them, 7 males and 161 females were aged from 22 to 75 years old with an average of(59.3±3.5) years old. Preoperative clinical manifestation mainly focus on red and swollen of bunion, pain around with metatarsal bones, and diagnosed as hallux valgus with deformity of little toe varus through small incision. Operative time, postoperative complications, pre and post-operative IMA(angle between the first and the second metatarsal bones), HVA (hallux valgus angle), LDA(valgus angle of the fifth metatarsal bones), MPA(valgus angle of little toe), IM4-5 (angle between the forth and the fifth metatarsal bones) and PASA(fixed angle of proximal joint), postoperative AOFAS score were used to evaluate foot function., Results: One hundred and sixty-eight patients were followed up for 6 to 48 months with an average of (28.6±3.2) months. All wounds were healed well without infection, sinus tract and other complications. Operative time ranged from 16 to 28 min with an average of (18.3±2.1) min. IMA, HVA, LDA, MPA and IM A 4-5 were (10.1±2.1)°, (32.6±4.2)°, (6.9±2.3)°, (18.5±5.2)°, (15.1±2.9)°preoperatively, improved to (8.3±2.2)°, (10.9±2.9)°, (2.7±0.4)°, (6.5±1.6)°, (8.9±1.8)° postoperatively, and had significant differences before and after operation. While there was no difference in PASA before (9.1±2.1)°and after operation(8.7±1.9)°. AOFAS score were improved from (31.6±3.9) before operation to(83.7±5.2) after operation, but no significant difference( P >0.05). According to AOFAS score, 147 patients obtained excellent results, 13 good, 6 moderate and 2 poor., Conclusions: Minimally corrective osteotomy for the treatment of hallux valgus with deformity of little toe varus through small incision could obtain satisfied clinical effect, and has advantages of small incision, no stitches, beautiful appearance, shorter operation time, and rapid recovery. It is worth popularization in clinical practise., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© 2018 by the China Journal of Orthopaedics and Traumatology Press.)

Raynaud's phenomenon is a vasospastic disorder of the digital vessels triggered by exposure to cold or stress. It is most commonly observed in the hands, but also frequently affects the toes. We present three cases of patients with severe Raynaud's phenomenon in the toes, secondary to scleroderma. The diagnosis of Raynaud's syndrome and scleroderma was established according to the 2010 American College of Rheumatology and European League Against Rheumatism criteria. Patients were treated with 10 units of botulinum toxin injected into each foot. Two millilitres was injected into the base of each toe in both the left and right feet. Six weeks postinjection into the toes, patients reported an improvement of cold intolerance, colour change and frequency and severity of Raynaud's attacks. The effects were reported to last up to 5 months. To our knowledge, these are the first reported cases of the treatment of Raynaud's phenomenon in the toes with botulinum toxin A., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Complex digital deformities and metatarsophalangeal joint instability encompass a wide range of pathology, and we must identify the different degrees of ligamentous disruption. It is important to address a combination of procedures to treat gross deformities of the lesser toes. Surgical treatment should be individualized and requires a sequential process for adequate reduction and deformity correction. There is no gold standard procedure for every deformity. Although residual stiffness can result from tendon transfer, overall patient satisfaction levels remain high when it is performed under the proper indications and concomitantly with other procedures to gain full correction of these challenging deformities., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Synovial sarcoma is a rare occurrence in the lower extremity, although the presenting symptoms can mimic those of other more common and benign musculoskeletal pathologies. We present the case of a patient who was originally thought to have a Morton's neuroma or ganglionic cyst. The correct diagnosis, synovial sarcoma, was determined only after an unplanned excision. Despite the patient presenting with symptoms similar to those of a compressive neuropathy, a high index of suspicion should be present when a patient presents with any soft tissue mass, especially if it has an unusual clinical appearance to avoid an unplanned excision., (Copyright © 2017 The American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.)

Acral fibrokeratoma is a rare soft-tissue mass, more commonly found on the hands and rarely on the feet. This case report of a 40-year-old Hispanic man highlights an unusually located acral fibrokeratoma on the second toe, describes the clinical presentation and microscopic and pathologic findings, discusses differential diagnoses, and presents treatment options.

Background: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype., Methods: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity., Results: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver. The 4.57 Mb disease locus harboured homozygous, truncating CEP19 c.194_195insA (p.Tyr65*) mutation. We also found glioma-associated oncogene homolog 1( GLI1 ) c.820G>C (p.Gly274Arg) in the homozygous state in most patients. In silico modelling strongly suggests that it is damaging. Also, different combinations of four possible modifier alleles in BBS-related genes were detected. Two are known modifier alleles for BBS, splicing variant CCDC28B c.330C>T and missense MKKS/BBS6 p.Ile339Val, and the others are C8ORF37/BBS21 p.Ala178Val and TMEM67 / BBS14 modifier p.Asp799Asp. Some patients carry all those five known/possible modifier alleles. Such variants are highly significantly more abundant in our patients than in a control group., Conclusion: CEP19 encodes a centrosomal and ciliary protein, as all BBS genes do. Another truncating mutation p.Arg82* has been reported as responsible for morbid obesity in a family; however, in the family we present, not all homozygotes are obese, although some are severely obese. The variant in GLI1 , encoding a transcription factor that localises to the primary cilium and nucleus and is a mediator of the sonic hedgehog pathway, possibly exacerbates disease severity when in the homozygous state., Competing Interests: Competing interests: None declared., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Background: Symmetric peripheral gangrene (SPG) is a symmetrical distal ischemic lesion on at least 2 or more extremities in the absence of proximal arterial obstruction and vasculitis. It is a rare and severe clinical entity. The aim of this study was to describe clinical symptoms, etiological agents and the management of SPG through a series of 4 cases., Patients and Methods: We included all cases of SPG hospitalized between 2000 and 2014. The inclusion criterion was the presence of distal ischemic damage at two or more sites in the absence of large vessel obstruction., Results: Four patients (2 men and 2 women) were included. The mean age was 43.2±12 years. Two patients had a history of splenectomy. All patients had blackening of the tips of the fingers and toes. Three patients presented with septic shock. The etiology was bacteremia involving Streptococcus pneumoniae in two cases and a malignant form of Mediterranean spotted fever (MSF). In addition to specific antibiotics, we used a potent vasodilator (iloprost) in two cases and curative heparin therapy in two cases. The outcome was favorable in 3 cases, with regression of necrotic lesions. One case required the amputation of non-perfused necrotic fingers and toes., Conclusion: SPG can complicate MSF in some rare cases. Thorough and repeated skin examinations are essential to ensure timely diagnosis and treatment of GPS in order to improve the prognosis., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

We present a case of an 82-year-old male with known radiocontrast media (RCM) hypersensitivity who was admitted to our hospital with gangrene of his right toe. The plan for revascularization of his lower extremity required an angiogram. This presented a management challenge as the patient had experienced 2 episodes of delayed anaphylaxis to Omnipaque (iohexol) RCM, and based on a literature review, there was no known or established precedent on a safe procedure in these situations. The patient was premedicated and given a graded dose challenge of an alternative RCM (iodixanol) prior to the radiographic study. He was given 1% of the total expected dose 1 hour before to the procedure and an additional 10% for the 30 minutes prior. He was then given the final dose in the operating room. Following angiogram, the patient was monitored for 18 hours in the postanesthesia care unit, with no adverse reactions. He was placed on a prednisone taper for 1 week, with daily diphenhydramine. The patient remained asymptomatic throughout the hospital course. This novel approach to RCM hypersensitivity management lends itself to a hope that graded dose challenges may play a greater role in the management of these patients.

The glabrous skin on the flexor sides of hands and feet, compared to other integument regions, has thicker epidermis and more complex pattern of epidermal ridges, wherefore in microscopy is denominated as thick skin. The epidermis of this skin type has individually unique and permanent superficial patterns, called dermatoglyphics, which are maintained by regenerative potential of deep epidermal rete ridges, that interdigitate with adjacent dermis. Using light microscopy, we analyzed cadaveric big toes thick skin samples, described histology of deep epidermal ridges (intermediate, limiting, and transverse), and quantitatively evidenced their pattern of proliferation by immunohistochemical assessment of Ki67. Immunohistochemical distribution of Ki67 was confined to basal and suprabasal layers, with pattern of distribution specific for intermediate, limiting and transverse ridges that gradually transform within epidermal height. Deep epidermal ridges, interdigitating with dermal papillae, participate in construction of intricate epidermal base, whose possible role in epidermal regeneration was also discussed. Having a prominent morphology, this type of epidermis offers the best morphological insight in complexities of skin organization, and its understanding could challenge and improve currently accepted models of epidermal organization.