Onychomatricoma Research Articles

Onychomatricomas: Assessing Surgical Outcomes.

Onychomatricoma (OM) is a rare benign tumor of the nail matrix. Treatment is surgical, but data are currently limited. To review all cases of OM operated in their department and to assess the link between the location on the nail plate, the thickness and width of the lesion, and the postoperative outcomes. Records of 62 patients were retrieved from their department's database over a 25-year period (1998-2023). Of the 62 patients, 41 were eligible. In total, 58% of OM occupied a width of a quarter of the nail plate, 51% had a plate thinner than 3 mm, and 51% were laterally located. Of the 41 patients included, 29 had a tangential excision and 12 underwent lateral longitudinal excision. Among the tangential excision group, 71% had normal nail regrowth. Onychomatricoma thicker than 3 mm and involving the total nail plate width had a sequelae in 60% of cases. Tangential excision of onychomatricomas allows a normal nail regrowth in 71% of cases. The risk of sequelae increases for tumors thicker than 3 mm and involving the total nail plate width. Medial or lateral location seems to have no influence.

Onychomatricoma: a clinicopathological, immunohistochemical, and molecular study of 10 cases highlighting recurrent RB1 deletion and the potential diagnostic value of LEF-1.

Onychomatricoma (OM), an uncommon benign fibroepithelial neoplasm of the nail unit, is sometimes diagnostically challenging for clinicians and pathologists. OM consistently expresses CD34, but no specific immunohistohemical markers or recurrent genetic alterations have been identified to date. Recent studies have suggested that Wnt signalling is a key molecular characteristic of OM. Ten cases were analysed: four classical OM including two with pleomorphic cells; two superficial acral fibromyxoma-like variants of OM; three micropapilliferum variants of OM including one with pleomorphic cells; and one proliferating variant of OM. Immunohistochemically, the spindle cells were positive with CD34 (n=10) and CD99 (n=1), with focal reactivity for CD10 (n=5). The epithelial component of the tumours expressed immunopositivity for LEF-1. Using array comparative genomic hybridization (aCGH), we demonstrated that all OM, including its variants that were tested (n=8), harboured a few copy number alterations with losses of whole or part of chromosome 13 including the RB1 gene (n=8) and chromosome 16 (n=6). We report a recurrent loss of RB1 (13q) as a possible driver molecular event in OM indicating a relationship between OM and other lesions of the spectrum of the so-called '13q/RB1' family of tumours. We did not identify a role for the Wnt/beta-catenin signalling pathway, as has been proposed in a recent study. LEF-1 could be a potential sensitive and specific marker of OM and should be used in the differential diagnosis between OM, superficial acral fibromyxoma, and the CD34-positive fibrosing family of tumours.

Molecular characterization of onychomatricoma: Spatial profiling reveals the role of onychofibroblasts in its pathogenesis.

Onychomatricoma (OM) is a rare nail unit tumour with a characteristic presentation of finger-like projections arising from the nail matrix. Due to the lack of transcriptome information, the mechanisms underlying its development are largely unknown. To characterize molecular features involved in the disease pathogenesis, we used digital spatial profiling (DSP) in 2 cases of OM and normal control nail units. Based on the histological evaluation, we selectively profiled 69 regions of interest covering epithelial and stromal compartments of each tissue section. Dermoscopic and histopathologic findings were reviewed in 6 cases. Single-cell RNA sequencing of nail units and DSP were combined to define cell type contributions of OM. We identified 173 genes upregulated in stromal compartments of OM compared to onychodermis, specialized nail mesenchyme. Gene ontology analysis of the upregulated genes suggested the role of Wnt pathway activation in OM pathogenesis. We also found PLA2G2A, a known modulator of Wnt signalling, is strongly and specifically expressed in the OM stroma. The potential role of Wnt pathway was further supported by strong nuclear localization of β-catenin in OM. Compared to the nail matrix epithelium, only a few genes were increased in OM epithelium. Deconvolution of nail unit cell types showed that onychofibroblasts are the dominant cell type in OM stroma. Altogether, integrated spatial and single-cell multi-omics concluded that OM is a tumour that derives a significant proportion of its origin from onychofibroblasts and is associated with upregulation of Wnt signals, which play a key role in the disease pathogenesis.

Proliferating Onychomatricoma. Clinical, Dermoscopical, and Pathologic Features of Onychomatricoma New Variant Resembling Onycholemmal/Squamous Cell Carcinoma.

Proliferating onychomatricoma is a new challenging variant of onychomatricoma that can clinically and histologically mimic squamous cell carcinoma/onycholemmal carcinoma. This is a retrospective case series study of the clinicopathologic and dermoscopic features of 6 patients with a pathologic diagnosis of proliferating onychomatricoma, which was conducted in the dermatology and dermatopathology departments of 2 university hospitals and a private nail's dermatology consultation. The clinical, histological, and immunohistochemical features and follow-up of 6 patients with proliferating onychomatricoma were analyzed; we compare our finding with 6 cases of conventional onychomatricoma. The female-to-male ratio was 1:1 with involvement of fingers in 4 and toe in 2. Among the symptoms were verrucous lesion simulating squamous cell carcinoma, nail thickening, periungual erythema, and pain; symptom duration ranged from 5 to 8 years. Clinical, dermoscopical en face free-margin view, and nail-clipping histologic findings reveal a nail wall-like pattern with pitting. Intraoperative, noncontact, polarizing, light dermoscopy was available in 1 case and showed the typical signs of onychomatricoma (OM). Histologically, all cases showed a well-differentiated, infiltrative, squamous, proliferative lesion exhibiting a lobulated and cystic pattern of growth in the dermis. Abrupt keratinization reminiscent of trichilemmal keratinization, but corresponding in fact to keratogenous spheres, was noted as well as a dysmaturative epithelial pattern. No atypical cytomorphological changes were found. Proliferating onychomatricoma is a new variant of onychomatricoma, which can be misdiagnosed as squamous cell carcinoma/onycholemmal carcinoma; its proper recognition may minimize morbidity associated with inappropriate treatment. Proliferating OM can be differentiated from conventional OM clinically by a free-edge wall-like pattern and on histology of nail clipping by the relatively small size of the cavities. Dermoscopic and nail clipping attributes as free-edge honeycomb-like cavities associated with conventional OM are well established and permit a diagnosis of OM without an invasive nail biopsy. The free-edge wall-like pattern is a distinct new dermoscopic and nail-clipping pattern that should raise for the others onychogenic neoplasms and prompt the clinician to obtain a biopsy specimen. In addition to proliferating OM, the differential diagnosis includes a micropapilliferum variant of OM, onychocytic matricoma, and onychocytic carcinoma.

Pigmented onychomatricoma may originate from a childhood trauma: A case report

Pigmented onychomatricoma (OM) is a very rare benign fibroepithelial tumor of the nail matrix. We report the case of a 23-year-old Lebanese man with 15-year history of nail plate dystrophy with longitudinal ridging, yellowish discoloration, excessive transverse curvature and late-onset melanonychia along the medial third of the right thumb nail. Excisional biopsy was performed and confirmed OM. We outline the clinical history, radiological and histopathological findings as well as the surgical and reconstructive technique of this unusual case of OM. The age group, history of crush injury, and pigmentation of the nail plate make of this rare form of ungual tumor an interesting case report.

Intraoperative dermoscopic features of onychomatricoma: a review of 10 cases.

Amelanotic nail tumours are difficult to diagnose. Dermoscopy is an accessible tool successfully used in diagnosis of amelanotic or melanotic skin tumours. We have previously shown the usefulness of dermoscopy in the preoperative diagnosis of onychomatricoma (OM). In this study, we completed this work by identifying additional intraoperative criteria to better establish the initial diagnosis of this tumour. Evaluation of intraoperative dermoscopy in a small series of OM cases in order to define relevant diagnostic criteria. In total, 10 patients with OM diagnosed in our centre were enrolled in the study. Six trained dermoscopists individually evaluated each criterion, then the data were compared and a consensus reached after discussion between the observers. For each criterion, we analysed its frequency and its interobserver accordance. We defined three architectural criteria (the 'Sagrada Familia' sign, digitations and the 'mirror sign'), and three vascular criteria (sagittal vessels, dotted vessels and irregular vessels). The Sagrada Familia sign, digitations and mirror sign were found in 100%, 90% and 70% of the cases, respectively, with high interobserver agreement. The vascular criteria were less regularly observed: sagittal, dotted and irregular vessels were respectively found in 80%, 70% and 50% of the OM cases, and were more difficult to assess, as shown by the lower interobserver agreement rates. Intraoperative dermoscopy of the nail matrix and bed offers useful information for the diagnosis and management of OM. Larger comparative studies should be performed to evaluate the true benefit of this approach.

A tumor hidden beneath the nail plate: report of a rare case of onychomatricoma with three-dimensional histopathological analysis and immunohistochemical study.

Onychomatricoma is a tumor of the nail matrix which often presents with alterations in the nail plate while the tumor itself is concealed beneath the nail plate. It is a benign, biphasic fibroepithelial tumor which has to be differentiated from other subungual and periungual tumors. We report a rare case of onychomatricoma and describe a three-dimensional histopathological analysis and immunohistochemical patterns of onychomatricoma.

Onychocytic Carcinoma

We have recently described a new nail tumor known as onychocytic matricoma. Herein, we describe its malignant counterpart. Clinically, the tumor simulates onychomatricoma (OM). Histologically, this in situ malignant epithelial tumor exhibits a distinct picture of onychocytic differentiation with signs of both nail matrical differentiation and nail plate differentiation. We have proposed the name onychocytic carcinoma for this singular adnexal neoplasm. Given the peculiar thickening of the nail plate observed in OM, onychocytic matricoma, and onychocytic carcinoma, the clinical individualization of a new type of nail band pattern could be proposed. It presents as an acquired localized (monodactylous) longitudinal pachyonychia. Such longitudinal pachyonychia allow the recognition of the matrical nail tumor, which has a limited etiological spectrum. Xantholeucopachyonychia suggests mainly OM and rarely onychocytic carcinoma. Pachymelanonychia suggests onychocytic matricoma and rarely pigmented OM or onychocytic carcinoma.

Onychomatricoma

Onychomatricoma (OM) is a fibroepithelial tumor of nail matrix that occurs in the digits of both the hands and feet. This was first reported by Baran and Kint. They initially described 3 cases, all of which demonstrated a filamentous tumor of matrix tissue that resulted in a thickened funnel-shaped nail. Although apparently benign, it is subject to recurrence, and long-term follow-up is recommended because it is not known whether there is a conversion to malignancy. Even though this neoplasm was first described more than 18 years ago, there remains a dearth of case reports (currently fewer than 50) in the literature. This is a single case report and literature review. Levels of Evidence : Therapeutic, Level IV.

Onychomatricoma in the Light of the Microanatomy of the Normal Nail Unit

Onychomatricoma (OM) is an uncommon benign tumor of the nail thought to exhibit differentiation limited toward the nail matrix. Four recent articles from our laboratory have shown, in some respect, a morphological and immunohistochemical homology between the nail unit and the hair follicle at the level of the matrix and isthmus. The purposes of this article are as follows: to investigate whether the sequential pattern of hair keratin expression in the normal nail matrix is maintained in OM, to compare and contrast follicular tumors with matrix differentiation in OM, and to furnish morphological and immunohistochemical markers of the onychogenic capacity of OM. Formalin-fixed paraffin sections from 6 OM were examined using specific keratin (K) antibodies for the matrix, nail bed, and nail isthmus. Hair keratins were expressed in a sequential pattern similar to normal nail matrix. In 3 cases where the cavities were completely lined by the fibroepithelial projections, the morphological aspect and the pattern of expression of K5, K17, K6, K16, and K75 suggested a differentiation toward the nail bed and the nail isthmus. This study shows for the first time that OM can recapitulate the entire nail unit with differentiation toward the nail bed and the nail isthmus. We have identified new histopathological and immunohistochemical features in OM, and we have abridged the diversity of its histological presentation in 2 main patterns: a lobulated or foliated pattern, observed principally on transverse section, and a "glove-finger" mono- or multidigitate pattern, observed mainly on longitudinal section. We have also concluded that OM is not a nail variant of trichoblastoma, pilomatricoma, or other pilar tumors. The concept of epithelial onychogenic tumor with onychogenic mesenchyme could shed more light about the true nature of this peculiar mixed tumor. However, the term OM is short and sanctioned by usage, which justifies keeping it.

Onychomatricoma: New Clinical and Histological Features. A Review of 19 Tumors

To further define the clinicopathological spectrum of onychomatricoma (OM). We report the clinical feature, histological, and immunophenotypic characteristics of 19 cases of OM diagnosed between 2002 and 2007. The characteristic histologic appearance of OM is sometimes difficult to grasp because of 3 main factors: the anatomic particularities of the nail apparatus, the often fragmented aspect of the tissue specimen, and the choice of the section planes, which strongly modified the morphologic appearances observed. To prevent these difficulties, we built a tridimensional model using serial, transverse, and longitudinal sections. This reconstitution gives us a better understanding of the apparent diversity of the morphologic aspects observed in linking them to the anatomic site of the tumor. OM of the matrix is characterized by a thick nail plate with porch roof. OM of the ventral aspect of the proximal nail fold (PNF) is characterized by a nail plate without porch roof, exhibiting either a woodworm-like appearance or multiple cavities. In this second category, the fibrous base becomes elongated in shape, taking the shape of the anatomic contour of the PNF. The stroma gives rise to numerous fibroepithelial digitations. This pattern is different from the classical OM visualized in longitudinal sections, which appears as a single and large fibroepithelial tumor, that is, the multiple distal epithelial digitations arranged along a transversal plane are not seen. In the PNF variant, the characteristic clinical signs of OM fail to appear. We individualize 3 misleading clinical variants: tumor with a verrucous surface that is located in the lateral nail fold, as a band pattern suggesting wart or Bowen disease; a total dystrophy of the nail unit mimicking a squamous cell carcinoma; and pseudofibrokeratoma type. In the OM located on the ventral matrix, 3 new specific histologic variants were noted: pleomorphic OM, OM with a predominantly collagenous stroma, and superficial acral fibromyxoma-;like OM. OM is a benign tumor with a broader morphologic spectrum than previously thought. When the nail plate is not available, the immunohistochemistry can aid diagnosis by highlighting the peculiar immunophenotyping of OM, which expresses CD34 but not CD99, epithelial membrane antigen, S-100 protein, actin, and desmin.

Onychomatricoma: Clinical and Sonographic Findings

Onychomatricoma (OM) is a rare benign tumor of the nail matrix clinically characterized by longitudinal bands of yellow thickening of the nail plate with transverse overcurvature and splinter hemorrhages.1-4 The diagnosis is often difficult, and many cases are misdiagnosed and erroneously treated.

Bowen's disease clinically simulating an onychomatricoma

Onychomatricoma (OM) is an uncommon benign tumor clinically characterized by a thickened yellowish nail with transverse over curvature. A pigmented variant has recently been described. Histologically, the diagnosis requires 3 prerequisites: (1) a fibroepithelial tumor consisting of 2 portions: the proximal zone (under the proximal nailfold, characterized by deep epithelial invaginations and a fibrillary and fibrocytic stroma), whereas the distal zone (corresponding to the lunula) presents with multiple digitations along its connective tissue axes; (2) a matricial tumor typified by a thick keratogenous zone; and (3) a thick nail plate, perforated by cavities. We describe a case that appears clinically identical to a pigmented OM, but with histologic malignant patterns. Because histologic features were consistent with Bowen's disease, we ruled out a malignant OM. We report a new variant of Bowen's disease presenting as OM, and this observation underlines the necessity for a histologic assessment of all forms of OM, especially those associated with a pigmented band (a sign sometimes observed in Bowen's disease). (J Am Acad Dermatol 2002;47:947-9.)

The onychomatricoma: additional histologic criteria and immunohistochemical study.

Onychomatricoma (OM) is a tumor of the nail matrix typified histologically by multiple distal fibroepithelial projections and a thick keratogenous zone forming multiple V-shaped invaginations at the level of epithelial ridges, with the formation of a thick nail plate. In its proximal portion, the thickness of the nail looks like a spur originating from the ventral part of the nail plate. In its distal part, beyond the lunula, the nail plate is globally thickened and filled with cavities containing serous fluid. Often, however, the pathologist is not provided with the nail plate. The diagnosis then rests on the presence of a fibroepithelial tumor. In this article the histologic criteria of OM without nail plate are refined and OM is characterized immunohistochemically using three tumors fixed in liquid nitrogen and examined separately from the nail plate. On longitudinal section OM without nail plate appears as a unique pedunculated fibroepithelial tumor i.e., the multiple distal epithelial digitations arranged along a transversal plane are not seen. The feature is reminiscent of fibrokeratoma. When OM is visualized in longitudinal section, 3 main criteria differentiate OM from fibrokeratoma: the presence of epithelial-lined invaginations around optical cavities, a stroma organized in 2 layers, and the absence of horny corn. Patterns of expression of cytokeratins and integrins in OM are identical to that observed in the normal nail matrix. Involucrin finds expression from the basal layer through to the top of the epithelium, where it is more marked and where transglutaminase 1 is restricted. Merkel cells detected by CK 20 are increased in number and sometimes disposed in clusters. The fibrous component of OM is composed of 2 layers: a superficial stroma made of numerous fines fibrils of collagen IV intermingled with collagen I, and deep stroma made principally of collagen I. Antibody AE13, specific to trichocytic keratins Ha 1-4, represent a good potential marker of OM. Its V-shaped expression in epithelium ridges offers early identification of the keratogenous zone of OM, on tumors separated from their nail plates and limited to their fibroepithelial components.