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1.
Medicine (Baltimore) ; 102(25): e34034, 2023 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-37352079

RESUMO

RATIONALE: Malignant melanoma (MM) is notorious for its remarkable morphological variation and aberrant histopathological patterns. In addition, Malignant Periopheral Nerve Sheath Tumor (MPNST) is an uncommon but aggressive soft tissue sarcoma. Because of the common embryological origin of melanocytes and Schwann cells in the neural crest, discriminating between a particular type of MM and MPNST can be difficult, particularly when they are amelanotic. Our goal is to increase awareness among clinicians of the rare variations of MM and the importance of medical history in improving the accuracy of the final clinical diagnosis. PATIENT CONCERNS: A 68-year-old man was admitted to the hospital due to pain in his right ankle, which had persisted for 8 months, along with swelling for 4 months. Medical history revealed delayed healing of right plantar for 5 years after a traumatic injury. DIAGNOSES: The ankle mass was initially diagnosed as MPNST through biopsy. After reviewing the patient's medical history and receiving the final pathological report following amputation, we have revised the diagnosis to metastatic amelanotic desmoplastic melanoma in the ankle part and lentigo maligna melanoma in the plantar part. This is due to both lesions displaying positive markers or mutated genes in immunohistology and Gene Mutation Detection, indicating homology between the 2 tumors. INTERVENTIONS: Due to the malignant characteristics of the tumor and the patient's wishes, amputation of the right lower leg was carried out. OUTCOMES: Subsequently, the patient was treated with interferon-γ and immunosuppressant PD-1 inhibitor, and survived for 1 year after amputation. LESSONS: Clinical data, immunohistochemisty biomarkers and genes detection results can serve as valuable evidence for pathologists and clinicians in identifying the disease process. Collaborative efforts between clinicians and scientists are crucial in order to identify specific markers that can effectively differentiate between the 2 tumors, thereby enhancing the conclusiveness of the diagnosis.


Assuntos
Melanoma Amelanótico , Melanoma , Neurofibrossarcoma , Neoplasias Cutâneas , Masculino , Humanos , Idoso , Neurofibrossarcoma/patologia , Melanoma/diagnóstico , Melanoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Melanócitos/patologia , Melanoma Amelanótico/diagnóstico , Melanoma Maligno Cutâneo
2.
Medicine (Baltimore) ; 99(39): e22294, 2020 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-32991433

RESUMO

RATIONALE: Kirner's deformity is an uncommon deformity of finger, characterized by palmo-radial curvature of distal phalanx of the fifth finger. The specific mechanism remains unknown yet. This study aims to present a case report to add the knowledge on this type of deformity. PATIENT CONCERNS: A 9-year-old girl presenting with deformity of her fifth finger since she was born was admitted to our hand surgery clinic. MRI findings showed widened epiphyseal plate, L-shaped physis, but normal flexor digitorum profundus tendon insertion, without any significantly enhanced soft issues. DIAGNOSIS: Kirner's deformity of the fifth finger. INTERVENTIONS: We presented 2 surgical choices for the patient: one was wedge osteotomy of the distal phalanx to correct the mechanical line of the distal phalanx and fixation with Kirschner wire and the other one was cut-off of deep flexor tendon insertion with brace immobilization, but her guardians refused either of them. OUTCOMES: Consecutive follow-up was performed for 19 months after the first visit, showing no any change in finger shape and function. LESSONS: The L-shaped epiphyses may be the cause of Kirner's deformity and further attention should be paid on in the clinic. This case report provided a basis for the etiological diagnosis and future treatment of Kirner's deformity.


Assuntos
Falanges dos Dedos da Mão/anormalidades , Deformidades Congênitas da Mão/diagnóstico por imagem , Osteotomia/instrumentação , Assistência ao Convalescente , Fios Ortopédicos/normas , Braquetes/normas , Criança , Feminino , Falanges dos Dedos da Mão/cirurgia , Lâmina de Crescimento/anormalidades , Lâmina de Crescimento/diagnóstico por imagem , Deformidades Congênitas da Mão/cirurgia , Humanos , Imageamento por Ressonância Magnética/métodos , Osteotomia/métodos , Tendões/diagnóstico por imagem , Tendões/cirurgia , Recusa do Paciente ao Tratamento
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