Phalangeal sarcoidosis - A rare case report.

We report a case of a 57-year-old woman who presented a rapidly progressing swelling at the base of her right 4th finger, with imaging revealing non-specific lesions suggestive of a malignant tumoral process. Following imaging, resection-biopsy revealed a non-caseating granulomatous inflammatory infiltrate suggesting sarcoidosis. Digital sarcoidosis is an uncommon presentation of the disease, especially in the early stages and without systemic symptoms. Early diagnosis and treatment are advised in order to prevent future complications.

Intraosseous Schwannoma of the Distal Phalanx.

Intraosseous schwannomas are extremely rare and only a few cases involving the proximal phalanx and metacarpal of the hand have been reported. We report a patient with an intraosseous schwannoma of the distal phalanx. Radiographs showed lytic lesions in the bony cortex and enlarged soft shadows of the distal phalanx. The lesion was hyperintense to fat on T2-weighted magnetic resonance imaging (MRI) and strongly enhanced after gadolinium (Gd) administration. Surgical findings revealed that the tumour had developed from the palmar side of the distal phalanx and the medullary cavity was filled with a yellow tumour. The histological diagnosis was schwannoma. A definitive diagnosis of intraosseous schwannoma using radiography is difficult. In our case, a high signal was observed on Gd-enhanced MRI and histological findings showed areas with a high cellular area. Thus, Gd-enhanced MRI may help in the diagnosis of intraosseous schwannomas of the hand. Level of Evidence: Level V (Therapeutic).

Microgeodic disease in an infant.

We describe an infant presenting with intermittent discolouration and swelling of her fingers and toes occurring with changes in ambient temperature. Extensive investigations revealed raised inflammatory markers as well as sclerotic lesions within the phalanges and diffuse marrow oedema. Infectious and inflammatory causes were considered and excluded based on the clinical presentation and investigation findings. The persistence of symptoms prompted further investigation with MRI. Correlation of the MRI findings with previous case reports resulted in a diagnosis of microgeodic disease-an uncommon, self-limiting condition thought to be due to cold-induced vasospasm leading to avascular necrosis of the bone.

Primary cutaneous phalangeal neuroendocrine/squamous cell carcinoma with mixed axillary metastasis.

Cutaneous neuroendocrine tumours are rare and aggressive tumours associated with advanced age and immunosuppression. They are typically characterised by a high rate of local recurrence and nodal disease. The presence of a mixed squamous cell component is rare. These tumours are uncommonly found on the hand. We present a case and histological images of a 78-year-old woman with a primary CK20 negative TTF-1 positive cutaneous neuroendocrine tumour with squamous dedifferentiation arising from the fifth digit with axillary metastasis showing a mixed phenotype. Initial biopsy of the lesion was positive for chromogranin, synaptophysin and TTF-1, but negative for CK20, Melan-A and S100. After CT of the thorax abdomen and pelvis and octreotide single positron emission CT demonstrated a 15 mm axillary metastasis and no evidence of distal disease, our patient underwent an amputation of the affected digit and an axillary lymph node dissection. She is currently awaiting adjuvant chemoradiotherapy. Only two cases are reported in the literature to have mixed squamous/neuroendocrine features. We present the first case which is CK20 negative and TTF-1 positive.

Giant Cell Tumor of the Proximal Phalanx: Report of two Cases Treated by Two Different Methods and Review of the Literature.

The hand is an extremely rare site for giant cell tumor (GCT). There are only a few reported cases of GCT including the hand, and even fewer reporting involvement of phalanges. GCTs in small bones are typically more aggressive and have higher local recurrence and rate of metastasis in younger patients compared to long bone involvement, so the treatment is more clinically challenging in the hand. In this study, we present the management of giant cell tumors of the proximal phalanxin two patients treated with two different method; ray resection and arthrodesis using an iliac crest graft. Key words: giant cell tumor, phalanx, hand, recurrence.

Phalangeal Intra-Articular Osteochondroma Caused a Rare Clinodactyly Deformity in Children: Case Series and Literature Review.

Background: Various factors are discovered in the development of clinodactyly. The purpose of this retrospective study was to present a group of children with a rare clinodactyly deformity caused by phalangeal intra-articular osteochondroma and evaluate the efficacy of various treatment methods. Methods: All child patients that were treated for finger problems in our center between Jan 2017 and Dec 2020 were reviewed. A detailed analysis was made of the diagnosis and treatment methods in eight rare cases. X-rays and histopathology were applied. Results: A preliminary analysis of 405 patients in total was performed, and we included eight cases in our final analysis. This cohort consisted of 2 girls and 6 boys, with a mean age of 5.74 ± 3.22 years (range: 2y5m to 11y). Overall, four patients had their right hand affected and four patients had their left hand affected. One patient was diagnosed as having hereditary multiple osteochondroma (HMO) while the other seven patients were all grouped into solitary osteochondroma. Osteochondroma was proven in all of them by histopathology examination. Preoperative X-rays were used to allow identification and surgery planning in all cases. All osteochondromas were intra-articular and in the distal end of the phalanges, which is located opposite the epiphyseal growth area. All of the osteochondromas developed in half side of the phalanges. The angulation in the finger long axis was measured, and resulted in a mean angulation of 34.63 ± 24.93 degree (range: 10.16-88.91 degree). All of them received surgery, resulting in good appearance and fingers straightening. No recurrence was recorded. Conclusions: This retrospective analysis indicates that 10 degrees can be selected as the angulation level for diagnosis of clinodactyly deformities. What's more important, the abnormal mass proven by X-rays should be included as the classical direct sign for diagnosis. The first choice of treatment is surgery in symptomatic osteochondromas.

Bilateral Lung Metastases From a Phalangeal Giant Cell Tumor of Bone.

We describe a rare pediatric case of a phalangeal giant cell tumor of bone with extensive bilateral lung metastases following curettage, wide resection, and amputation. Concurrent peripheral blood eosinophilia and pleural effusion with marked eosinophilia (47%) were present. To discover genetic changes driving tumor metastasis, genomic and transcriptome profiling of the metastatic lung mass as well as germline analysis were performed. Whole exome sequencing detected a histone H3F3A p.G35V missense mutation in tumor cells. RNA sequencing revealed overexpression of receptor activator of nuclear factor kappa-B ligand (RANKL). The patient is alive with no residual disease and uncompromised respiratory function 29 months after amputation of primary tumor and 19 months after surgical resection of his metastatic lung disease.

Hiperpigmentación de las falanges distales del lactante / Hyperpigmentation of an Infant's Fingers and Toes

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Hiperpigmentación de falanges distales en lactante caucásico / Hyperpigmentation of the Distal Portion of the Fingers in a White Infant

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Distal phalanx: an unusual site for a gastric adenocarcinoma metastasis.

Gastric adenocarcinoma typically metastasises to the liver, peritoneum and lung. Bone metastasises are less frequent and particularly uncommon in the distal extremities. This is an unusual case of metastatic disease in the distal phalanx mimicking the presentation of osteomyelitis. This case highlights the need to remain vigilant in patients with known cancer and to always be mindful of metastatic disease, even if the presentation is atypical.

Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family.

Brachydactyly type A (BDA) is defined as short middle phalanges of the affected digits and is subdivided into four types (BDA1-4). To date, the molecular cause is unknown. However, there is some evidence that pathogenic variants of HOXD13 could be associated with BDA3 and BDA4. Here, we report a Chinese autosomal dominant BDA3 pedigree with a novel HOXD13 mutation. The affected individuals presented with an obviously shorter fifth middle phalanx. The radial side of the middle phalanx was shorter than the ulnar side, and the terminal phalanx of the fifth finger inclined radially and formed classical clinodactyly. Interestingly, the index finger was normal. The initial diagnosis was BDA3. However, the distal third and fourth middle phalanges were also slightly affected, resulting in mild radial clinodactyly. Both feet showed shortening of the middle phalanges, which were fused to the distal phalanges of the second to the fifth toes, as reported in BDA4. Therefore, this pedigree had combined BDA3 and atypical BDA4. By direct sequencing, a 13 bp deletion within exon 1 of HOXD13 (NM_000523.4: c.708_720del13; NP_000514.2: p.Gly237fs) was identified. The 13 bp deletion resulted in a frameshift and premature termination of HOXD13. This study provides further evidences that variants in HOXD13 cause BDA3-BDA4 phenotypes.

Acute calcific periarthritis of the proximal phalangeal joint on the fifth finger: A case report and literature review.

RATIONALE: Acute calcium deposits, including acute calcific periarthritis or acute calcific peritendinitis, are benign calcifying soft tissue lesions that have a self-resolving course. These calcifying lesions usually develop in the shoulder, while acute calcific periarthritis in the digits is uncommon. When acute calcific periarthritis involves the digits, the lesion occasionally mimics other benign calcifying or ossifying lesions and can easily be misdiagnosed, resulting in unnecessary diagnostic studies and treatment. We present a rare case of acute calcific periarthritis around the proximal phalangeal joint of the left fifth finger that took a long time to spontaneously resolve, and review previous reports of similar cases. PATIENT CONCERNS: A 69-year-old woman complained of longstanding pain and swelling of the fifth finger of the left hand. She had visited several clinics and hospitals and had been treated with analgesics and splinting for more than 2 months, but the pain in the finger had gradually worsened. DIAGNOSES: Blood chemistry analysis showed no signs of inflammation or other abnormalities. Radiographs revealed a well-defined subcutaneous calcifying lesion without bony destruction, suggesting a benign calcification process. Computed tomography and magnetic resonance imaging led to a diagnosis of acute calcific periarthritis of the proximal interphalangeal joint of the fifth finger. INTERVENTIONS: An excisional biopsy was recommended to achieve a definitive diagnosis, but this was declined by the patient. Thus, no invasive treatments were administered, and she was treated with analgesics and encouraged to massage the affected finger. OUTCOMES: The pain gradually improved, and follow-up radiographs showed complete disappearance of the calcifying mass 6 months after the initial visit to our hospital, without recurrence during a follow-up period of more than 2 years. LESSONS: Acute calcific periarthritis is diagnosed based on history, clinical examination, and imaging findings, which provide evidence for the diagnosis of calcium deposition in the digits even if the lesions have been present for a long time. Watchful observation is an appropriate treatment strategy for acute calcific periarthritis of the digits.

Giant enchondroma recurrence of the proximal phalanx of the fifth finger: a case report.

Enchondroma (EC) is a benign and cartilage-forming tumor that causes intramedullary lesions. Moreover, EC is the most common bone tumor in the phalanges and metacarpal bones of the hand, deforming the structure and causing pain and functional limitation. The management of this neoplasia is the surgical treatment and the approach that is well-accepted consists in the curettage followed by the void augmentation with biological or synthetic fillers. The results from surgery are usually good and the recurrence rate is low (2-15%). In this article we report a case of EC recurrence of the proximal phalanx of the fifth finger of the hand after curettage and grafting. The patient was treated with the amputation of the fifth ray according to the Tsuge technique, obtaining a satisfying clinical result.

Huge aneurysmal bone cyst secondary to giant cell tumor of the hand phalanx: a case report and related literature.

BACKGROUND: Aneurysmal bone cyst (ABC) secondary to Giant Cell Tumor of bone (GCT) is a rare lesion, of which the incidence is about 0.011 to 0.053 per 100,000 every year. There are only a few previous case reports, and most of them occur in the spine, long bones or flat bones. CASE PRESENTATION: We report one case of a patient who complained of "progressive enlargement of the mass on right-hand fifth finger for 5 years with ulceration for 6 months". After the imaging examination in our hospital, it was diagnosed as a "huge bone tumor on the proximal phalanx of the right-hand fifth finger", then wide excision and amputation of the fifth finger were made. The pathological examination diagnosed the mass as aneurysmal bone cyst secondary to giant cell tumor, 13 × 8 × 6 cm3, with no local infiltration observed. No recurrence and metastasis occurred 18 months after the operation, and the patient recovered well. CONCLUSION: In this report, we discuss the etiology, diagnosis, differentiation, and management of Aneurysmal bone Cyst secondary to Giant Cell Tumor of bone, and review previous case studies.