Soft Tissue Chondroma: A Possible Diagnosis of Single-Digit Nail Clubbing.
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ABSTRACT:
SUBMITTER: Xue S
PROVIDER: S-EPMC8667792 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
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Soft Tissue Chondroma: A Possible Diagnosis of Single-Digit Nail Clubbing.
Xue Siliang S Chen Yusha Y Haneke Eckart E
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 20220101 1
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Project description:The tips of mammalian digits can regenerate after amputation, like those of amphibians. It is unknown why this capacity is limited to the area associated with the nail. Here we show that nail stem cells (NSCs) reside in the proximal nail matrix and that the mechanisms governing NSC differentiation are coupled directly with their ability to orchestrate digit regeneration. Early nail progenitors undergo Wnt-dependent differentiation into the nail. After amputation, this Wnt activation is required for nail regeneration and also for attracting nerves that promote mesenchymal blastema growth, leading to the regeneration of the digit. Amputations proximal to the Wnt-active nail progenitors result in failure to regenerate the nail or digit. Nevertheless, β-catenin stabilization in the NSC region induced their regeneration. These results establish a link between NSC differentiation and digit regeneration, and suggest that NSCs may have the potential to contribute to the development of novel treatments for amputees.
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Project description:Benign soft tissue chondroma is a rare type of extraskeletal chondrocytic tumour. It usually can be found in skeletal system in extremities. Head and neck region is one of the most uncommon sites for extraskeletal chondroma .Most common site is tongue and there has been paucity of cases arising from the other subsites .We present a case of 56 years gentleman who came to our OPD with a right masticator space swelling. It was nonmalignant on FNAC. He underwent wide local excision through a transparotid approach. Final biopsy & IHC report showed presence of benign chondrocytic neoplasm- soft tissue chondroma (extraskeletal). No further therapy was used and he has been in follow up since then. To our knowledge ,this is the third reported case of masseteric space chondroma.Supplementary informationThe online version contains supplementary material available at 10.1007/s12070-023-03705-5.
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Project description:Soft-tissue sarcomas are locally aggressive tumours with a tendency to spread haematogenously, especially to the lungs. Most patients present without obvious metastases. Their management is dependent on an adequate incisional biopsy to assess the grade of the tumour. The biopsy incision must be carefully placed so as not to compromise subsequent radical excision. Of patients so treated, 20 to 30% experience local recurrence within the first 3 years postoperatively. The use of adjuvant radiotherapy decreases the incidence of local recurrence to about 15%. Patients with retroperitoneal sarcomas have a greater tendency to suffer recurrence, with disseminated disease throughout the abdomen. The overall 5-year survival rate is about 50%. Patients may, however, have persistent disease or develop metastases beyond the 5-year period. The optimal timing of radiation and chemotherapy remains unresolved, but multimodality treatment at least allows the advocation of limb-sparing procedures for patients with soft-tissue sarcomas.
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Project description:BackgroundInherited isolated nail clubbing is a very rare Mendelian condition in humans, characterized by enlargement of the terminal segments of fingers and toes with thickened nails. Mutations in two genes have been reported to cause isolated nail clubbing in humans, which are the SLCO2A1 gene and the HPGD gene.ObjectivesAn extended Pakistani family having two affected siblings born of unaffected consanguineous union was included in the study. Predominant isolated congenital nail clubbing (ICNC) without any other systemic abnormalities was observed, which we aimed to characterize at clinico-genetic level.MethodsWhole exome coupled with Sanger sequencing were employed to uncover the sequence variant as a cause of the disease. Furthermore, protein modeling was carried out to reveal the predicted possible effect of the mutation at the protein level.ResultsWhole exome sequencing data analysis revealed a novel biallelic sequence variant (c.155T>A; p.Phe52Tyr) in the SLCO2A1 gene. Further, Sanger sequencing analysis validated and confirmed the segregation of the novel variant in the entire family. Subsequently, protein modeling of the wild-type and mutated SLCO2A1 revealed broad-scale change, which might compromise the proteins' secondary structure and function.ConclusionThe present study adds another mutation to the SLCO2A1-related pathophysiology. The involvement of SLCO2A1 in the pathogenesis of ICNC may open exciting perceptions of this gene in nail development/morphogenesis.
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