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2.
Clin Anat ; 34(1): 19-23, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32281156

RESUMO

In this article, we report a case of isolated podal osteochondroma from the prehistoric Hypogeum of Calaforno (Giarratana, Ragusa, Sicily). Although the phalanx exhibiting the benign tumoral mass comes from a context featuring several commingled remains, the very good state of preservation of this bone allowed us to perform a comprehensive study of the neoplasm by applying a multidisciplinary approach encompassing archeology, morphology, stereomicroscopy, and radiology. The results from this very ancient specimen have been assessed in the light of the available paleopathological literature and clinical implications currently encountered in modern patients.


Assuntos
Neoplasias Ósseas/história , Osteocondroma/história , Falanges dos Dedos do Pé/patologia , Terras Antigas , História Antiga , Humanos , Paleopatologia , Sicília
4.
Am J Med Genet A ; 182(6): 1438-1448, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32259393

RESUMO

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotype-phenotype correlations have been identified for mutations in NOG in different races. Regular systematic examinations and hearing aids are beneficial for this syndrome. However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.


Assuntos
Anquilose/genética , Ossos do Carpo/anormalidades , Proteínas de Transporte/genética , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Perda Auditiva Condutiva/genética , Estribo/anormalidades , Sinostose/genética , Ossos do Tarso/anormalidades , Falanges dos Dedos do Pé/anormalidades , Anquilose/complicações , Anquilose/epidemiologia , Anquilose/patologia , Ossos do Carpo/patologia , Criança , Pré-Escolar , China/epidemiologia , Feminino , Deformidades Congênitas do Pé/complicações , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas do Pé/patologia , Estudos de Associação Genética , Predisposição Genética para Doença , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/epidemiologia , Deformidades Congênitas da Mão/patologia , Perda Auditiva Condutiva/complicações , Perda Auditiva Condutiva/epidemiologia , Perda Auditiva Condutiva/patologia , Humanos , Masculino , Mutação de Sentido Incorreto/genética , Linhagem , Fenótipo , Estribo/patologia , Sinostose/complicações , Sinostose/epidemiologia , Sinostose/patologia , Ossos do Tarso/patologia , Falanges dos Dedos do Pé/patologia , Dedos do Pé/anormalidades , Dedos do Pé/patologia , Sequenciamento do Exoma
5.
Int J Low Extrem Wounds ; 19(1): 99-104, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31556351

RESUMO

The treatment of choice for diabetic foot osteomyelitis is surgical debridement and targeted antibiotics with or without revascularization, depending on vascular status. In our society, debridement is done by either a vascular or orthopedic surgeon, and the common teaching is that generous amputation of bone with the accompanying soft tissue envelope is essential for adequate source control and to prevent recurrence (which remains as high as 30% even with this approach). Most of our patients undergo formal ray amputation through the metatarsal neck, while a few get digital amputations through the interphalangeal joints. Many of the resultant wounds cannot be closed and are left to heal by secondary intention. These amputations invariably alter the biomechanics of the foot and leave large and slow-healing open wounds, which have associated adverse psychosocial impacts. We describe 2 cases of patients who had osteomyelitis in the region of the forefoot who underwent complete bony resections of the osteomyelitis but with sparing of the soft tissue envelopes with good outcomes, and we challenge the dogma that maximal debridement of soft tissue must accompany debridement of necrotic and infected bone.


Assuntos
Desbridamento/métodos , Pé Diabético/complicações , Dissecação/métodos , Ossos Metacarpais , Tratamentos com Preservação do Órgão/métodos , Osteomielite/cirurgia , Falanges dos Dedos do Pé , Antepé Humano/patologia , Antepé Humano/cirurgia , Humanos , Masculino , Ossos Metacarpais/diagnóstico por imagem , Ossos Metacarpais/patologia , Ossos Metacarpais/cirurgia , Pessoa de Meia-Idade , Osteomielite/etiologia , Radiografia/métodos , Procedimentos de Cirurgia Plástica/métodos , Falanges dos Dedos do Pé/diagnóstico por imagem , Falanges dos Dedos do Pé/patologia , Falanges dos Dedos do Pé/cirurgia , Resultado do Tratamento
7.
Vet J ; 250: 63-70, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31383422

RESUMO

Laminitis is associated with failure of the suspensory apparatus of the distal phalanx (SADP) connecting the distal phalanx to the hoof wall. The specific aim of this study was to examine in vitro whether thinning of the hoof wall leading to increased deformability influences the damage of the laminar tissue created by loading of the hoof. Paired cadaver forelimbs from twelve horses were used. For each pair, the hoof wall from one hoof was thinned by 25%; this was ascertained by radiography. The contralateral hooves were used as controls. In a material testing machine, hooves were loaded in a proximodistal direction at 0.5mm/s until a cut-off value of 8kN or 14mm was reached. Afterwards, samples of the SADP were taken for histology. Image-based evaluation of the destruction of the SADP was performed using quantitative histogram analysis. Additionally, three examiners masked to treatment (trimmed/untrimmed) qualitatively evaluated SADP destruction. During hoof loading with forces from 0.5 to 1.8 times the body mass of the donor horses, hooves with thinned hoof wall underwent significantly more deformation (P<0.05). Quantitative histogram analysis detected a shift to higher brightness values and a higher pixel intensity in control hooves, representing disruption in the histologic analysis. Qualitative evaluation of histology sections showed significantly more disruption of the SADP in untrimmed hooves (P=0.03). These results confirm the hypothesis that reduced hoof wall thickness can decrease disruption of laminar tissue in vitro, thus supporting the evaluation of hoof wall reduction as a prophylactic measure in horses at imminent risk of SADP failure.


Assuntos
Doenças do Pé/veterinária , Casco e Garras/patologia , Doenças dos Cavalos/patologia , Falanges dos Dedos do Pé/patologia , Animais , Cadáver , Feminino , Doenças do Pé/patologia , Doenças do Pé/cirurgia , Membro Anterior/patologia , Membro Anterior/cirurgia , Casco e Garras/cirurgia , Doenças dos Cavalos/cirurgia , Cavalos , Técnicas In Vitro/veterinária , Masculino , Falanges dos Dedos do Pé/cirurgia
8.
J Pak Med Assoc ; 69(6): 896-898, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31201400

RESUMO

To report a case of chondrosarcoma of right big toe with left orbital and left infra temporal metastases. Chondrosarcoma is the second most frequent primary malignant tumour of the bone. A 56 year old man had history of trauma on his right big toe, which was amputated and the biopsy in 2011 at Sindh Institute of Urology and Transplantation (SIUT) revealed chondrosarcoma with clear margins. Eventually the patient was presented with swelling of the left eye, pain and gradual loss of vision of that eye. Later a CT scan of his chest, brain and orbit showed pulmonary and pleural based nodule, with mediastinal and hilar lymphadenopathy representing metastatic deposit in left orbit, extending to left infra temporal region. A treatment of palliative chemotherapy was started with doxorubicin and ifosfamide, after which he was referred for radiotherapy. At that time he had loss of vision, pain and exopthalamus, and palliative radiotherapy was delivered to the left orbit with the prescribed dose of30 Gy/300cGy×10 fraction. Thereafter his case will be followed up at the oncology OPD after a 03 month interval.


Assuntos
Neoplasias Ósseas/patologia , Condrossarcoma/secundário , Neoplasias Pulmonares/secundário , Neoplasias Orbitárias/secundário , Neoplasias da Base do Crânio/secundário , Falanges dos Dedos do Pé/patologia , Condrossarcoma/diagnóstico por imagem , Humanos , Fossa Infratemporal , Masculino , Pessoa de Meia-Idade , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias da Base do Crânio/diagnóstico por imagem , Tomografia Computadorizada por Raios X
9.
Exp Dermatol ; 28(4): 383-390, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30074290

RESUMO

In a large-scale ageing study, 30 inbred mouse strains were systematically screened for histologic evidence of lesions in all organ systems. Ten strains were diagnosed with similar nail abnormalities. The highest frequency was noted in NON/ShiLtJ mice. Lesions identified fell into two main categories: acute to chronic penetration of the third phalangeal bone through the hyponychium with associated inflammation and bone remodelling or metaplasia of the nail matrix and nail bed associated with severe orthokeratotic hyperkeratosis replacing the nail plate. Penetration of the distal phalanx through the hyponychium appeared to be the initiating feature resulting in nail abnormalities. The accompanying acute to subacute inflammatory response was associated with osteolysis of the distal phalanx. Evaluation of young NON/ShiLtJ mice revealed that these lesions were not often found, or affected only one digit. The only other nail unit abnormality identified was sporadic subungual epidermoid inclusion cysts which closely resembled similar lesions in human patients. These abnormalities, being age-related developments, may have contributed to weight loss due to impacts upon feeding and should be a consideration for future research due to the potential to interact with other experimental factors in ageing studies using the affected strains of mice.


Assuntos
Envelhecimento/patologia , Unhas Malformadas/patologia , Falanges dos Dedos do Pé/patologia , Animais , Remodelação Óssea , Estudos Transversais , Cisto Epidérmico/complicações , Feminino , Inflamação/etiologia , Queratina-1/metabolismo , Queratina-10/metabolismo , Ceratose/etiologia , Estudos Longitudinais , Masculino , Metaplasia/patologia , Camundongos , Camundongos Endogâmicos , Unhas Malformadas/etiologia , Unhas Malformadas/metabolismo
11.
J Nippon Med Sch ; 84(6): 308-310, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29279564

RESUMO

Giant cell tumors of the tendon sheath (GCT-TS) are one of the most common tumors of the hand, along with ganglions. However, occurrence in the toes is far less common. Here we present a rare case of GCT-TS at the middle phalanx level of the flexor digitorum longus tendon sheath. Magnetic resonance imaging showed low intensity both on T1 and T2 weighted images. To the best of our knowledge, our case is the first report of a GCT-TS arising at the middle phalanx level of the flexor digitorum longus tendon sheath of the fourth toe. Although GCT-TS are rare in the toe, they must be included in the differential diagnoses of soft tissue tumors arising in the toes.


Assuntos
Tumor de Células Gigantes de Bainha Tendinosa/diagnóstico por imagem , Falanges dos Dedos do Pé , Adulto , Diagnóstico Diferencial , Imagem de Difusão por Ressonância Magnética , Feminino , Tumor de Células Gigantes de Bainha Tendinosa/patologia , Tumor de Células Gigantes de Bainha Tendinosa/cirurgia , Humanos , Falanges dos Dedos do Pé/patologia , Falanges dos Dedos do Pé/cirurgia , Resultado do Tratamento
13.
J Foot Ankle Surg ; 56(4): 832-835, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28633787

RESUMO

We report a unique case of an epithelioid hemangioma of the third middle phalanx in which the lesion replaced the phalanx, became symptomatic, and then required resection, bone grafting, and joint arthroplasty. To the best of our knowledge, this is the first report of an epithelioid hemangioma in the toe that was treated using this approach.


Assuntos
Neoplasias Ósseas/cirurgia , Hemangioma/cirurgia , Falanges dos Dedos do Pé/cirurgia , Adulto , Feminino , Humanos , Falanges dos Dedos do Pé/patologia
14.
Ann Ital Chir ; 88: 368-370, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28632148

RESUMO

A cutaneous horn could be defined as a conical projection on the surface of skin made of cornified material and resembling an animal horn. These lesions most commonly affect light-skinned men aged between 50 to 89 years and usually appear in sun exposed areas. Radiation, chronic irritation and even human papilloma virus-2 infection may be precipitating factors. More than half of the cases originate from either malignant or premalignant lesions, therefore the base of the lesion must be carefully examined histologically. Long standing presence of the lesion, conspicuous protrusion of the horn and pain are positive predictive factors for malignancy and invasivity. In these cases an invasive surgical approach is needed. KEY WORDS: Basal cell carcinoma, Cancer, Clow foot, Non melanoma skin cancer, Skin cancer.


Assuntos
Carcinoma de Células Escamosas/cirurgia , Deformidades Adquiridas do Pé/cirurgia , Ossos do Metatarso/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Neoplasias Cutâneas/cirurgia , Falanges dos Dedos do Pé/cirurgia , Adulto , Carcinoma de Células Escamosas/diagnóstico por imagem , Carcinoma de Células Escamosas/patologia , Deformidades Adquiridas do Pé/diagnóstico por imagem , Deformidades Adquiridas do Pé/patologia , Humanos , Masculino , Ossos do Metatarso/diagnóstico por imagem , Ossos do Metatarso/patologia , Osteotomia , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Retalhos Cirúrgicos , Falanges dos Dedos do Pé/diagnóstico por imagem , Falanges dos Dedos do Pé/patologia
16.
J Foot Ankle Surg ; 56(2): 357-361, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28231967

RESUMO

Multiple myeloma is a malignancy of plasma cell proliferation leading to production of monoclonal immunoglobins. Among the classic features of multiple myeloma are bone lesions, which typically manifest in the axial skeleton, vertebrae, pelvis, skull, ribs, and proximal extremities. The several types of multiple myeloma include symptomatic multiple myeloma, monoclonal gammopathy of undetermined significance, smoldering/indolent myeloma, and solitary plasmacytoma of bone. Although rare, plasmacytomas of the foot and ankle have been described in published studies. We present, to the best of our knowledge, the first description of classic diffuse myelomatosis lesions associated with symptomatic myeloma in the foot of a patient with advanced disease who was treated in the podiatric surgery clinic for pathologic fracture.


Assuntos
Neoplasias Ósseas/patologia , Ossos do Metatarso/patologia , Mieloma Múltiplo/patologia , Falanges dos Dedos do Pé/patologia , Neoplasias Ósseas/diagnóstico por imagem , Fraturas Espontâneas/diagnóstico por imagem , Fraturas Espontâneas/etiologia , Humanos , Masculino , Ossos do Metatarso/diagnóstico por imagem , Ossos do Metatarso/lesões , Pessoa de Meia-Idade , Mieloma Múltiplo/diagnóstico por imagem , Doenças Raras , Falanges dos Dedos do Pé/diagnóstico por imagem
17.
Foot Ankle Spec ; 10(5): 470-472, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28161986

RESUMO

Intraosseous epidermal inclusion cysts (IEpC) are benign bone tumors that often present in the phalanges of the fingers, but rarely are seen in the lower extremity. These tumors often present following surgery, and have a similar clinical and radiographic presentation to osteomyelitis. The lack of defining characteristics makes preoperative diagnosis of these tumors very difficult. It is crucial to differentiate these tumors from malignant lesions with similar presentation. This case study presents our treatment of this osseous tumor and reviews the available literature describing this condition. LEVELS OF EVIDENCE: Level V: Case report.


Assuntos
Cistos Ósseos/cirurgia , Cisto Epidérmico/cirurgia , Doenças do Pé/cirurgia , Falanges dos Dedos do Pé/cirurgia , Amputação Cirúrgica/métodos , Cistos Ósseos/diagnóstico por imagem , Cistos Ósseos/patologia , Progressão da Doença , Cisto Epidérmico/diagnóstico por imagem , Cisto Epidérmico/patologia , Feminino , Seguimentos , Doenças do Pé/diagnóstico por imagem , Doenças do Pé/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Medição da Dor , Índice de Gravidade de Doença , Falanges dos Dedos do Pé/diagnóstico por imagem , Falanges dos Dedos do Pé/patologia , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento , Cicatrização/fisiologia
18.
Foot Ankle Int ; 38(2): 153-158, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27672063

RESUMO

BACKGROUND: Operative correction of a symptomatic hallux valgus interphalangeus (HVI) deformity is often achieved with an osteotomy at the proximal end of the proximal phalanx (Akin osteotomy). However, the apex of the typical HVI deformity (center of rotation angle) is at the interphalangeal joint of the hallux. This study was done to evaluate the results of performing a medial closing wedge osteotomy at the distal end of the proximal phalanx. METHODS: Thirty-three patients (33 feet) underwent an osteotomy at the distal end of the proximal phalanx for correction of HVI. All of the patients had other forefoot deformities which were corrected at the same time. Eight of these were revision procedures of prior forefoot operations. The length of follow-up was determined by the associated procedures with a minimum follow-up of 4 months. RESULTS: The preoperative hallux valgus interphalangeus angle averaged 16 degrees of valgus (range 7-32 degrees) and was corrected to an average of 2 degrees of valgus (range 5 degrees valgus to 5 degrees varus). All of the patients were satisfied with the postoperative appearance and function of the first toe. Because of simultaneous correction of numerous other forefoot problems, it was not possible to specifically isolate or evaluate the effects and benefits of this osteotomy using outcomes measures. There was one intraoperative complication resulting in a fracture extending into the adjacent IP joint. CONCLUSIONS: Correction of an HVI deformity can be achieved with an osteotomy at the distal end of the proximal phalanx. This was a safe technique with few complications and with good results in terms of both correction and patient satisfaction. LEVEL OF EVIDENCE: Level IV, retrospective case series.


Assuntos
Hallux Valgus/cirurgia , Osteotomia/métodos , Falanges dos Dedos do Pé/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Hallux Valgus/diagnóstico por imagem , Hallux Valgus/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Radiografia , Falanges dos Dedos do Pé/diagnóstico por imagem , Falanges dos Dedos do Pé/patologia , Adulto Jovem
20.
AJR Am J Roentgenol ; 207(6): 1252-1256, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27575610

RESUMO

OBJECTIVE: The objectives of our study were to describe the MRI findings of pedal phalangeal bone marrow edema in patients with Raynaud phenomenon (RP) and discuss the clinical implications of these MRI findings. CONCLUSION: There is a progressive distal-to-proximal pattern of pedal phalangeal bone marrow edema on MRI in patients with RP. This knowledge may allow early diagnosis and treatment of rheumatologic disorders that are potentially associated with RP.


Assuntos
Doenças da Medula Óssea/diagnóstico por imagem , Medula Óssea/diagnóstico por imagem , Edema/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Doença de Raynaud/diagnóstico por imagem , Falanges dos Dedos do Pé/diagnóstico por imagem , Adolescente , Adulto , Medula Óssea/patologia , Doenças da Medula Óssea/etiologia , Doenças da Medula Óssea/patologia , Diagnóstico Diferencial , Edema/etiologia , Edema/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Raynaud/complicações , Doença de Raynaud/patologia , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Falanges dos Dedos do Pé/patologia
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