Osteoma Cutis Research Articles

Miliary Osteoma Cutis, Report of A Case After Plant Injury

Osteoma cutis (OC) is a rare condition characterized by the presence of bone particles within the skin. One subtype of osteoma cutis is miliary osteoma cutis (MOC), which primarily affects middle-aged women and commonly occurs on the face. Clinical features of MOC include papules and skin-colored hard nodules, similar to milia. In this case, we present a 60-year-old woman with facial skin lesions resulting from a plant injury. The diagnosis was miliary osteoma cutis, and successful surgical treatment was performed

Miliary osteoma cutis in a climbing mantella frog (Mantella laevigata)

AbstractA climbing mantella frog (Mantella laevigata) was presented with nodular thickened skin. Histological examination revealed dermal nodules composed of differentiated bone consistent with miliary osteoma cutis, a non‐neoplastic condition where bone is abnormally deposited within the skin. This is the first report of idiopathic osteoma cutis in an amphibian.

A Rare Case of Osteoma Cutis in the Auricular Pinna: Clinical Presentation and Management Considerations

A Rare Case of Osteoma Cutis in the Auricular Pinna: Clinical Presentation and Management Considerations

Prevalence and Radiographic Features of Head and Neck Soft Tissue Calcifications on Digital Panoramic Radiographs: A Retrospective Study.

Background In this study, we aimed to determine the prevalence and radiographic features of incidental head and neck soft tissue calcifications (STCs) on panoramic imagesand assess their clinical significance. Methodology Following well-established training and calibration procedures, 9,553 digital panoramic radiographs (DPRs) taken between January 1, 2021, and January 31, 22, were retrospectively evaluated. Only obvious calcifications and clear differential diagnoses were considered. The presence, type, side (i.e., unilateral or bilateral), number (single or multiple), and the presence of different calcifications in the same individual were recorded. STCs were recorded according to age and gender. Data were analyzed using the chi-square test and Fisher's exact test using SPSS version 18.0 (IBM Corp., Armonk, NY, USA). Results Overall, 35.8% of the DPRs studied showed the presence of STCs, including ossified stylohyoid complex (OSHC) (10.3%), thyroid cartilage (9.8%), tonsillolith (9.2%), atherosclerotic plaques (5.8%), calcified triticeous cartilage (CTC) (5.1%), sialolith (1.9%), as well as intra-articular (1.3%) and other calcifications (0.1-0.8%), i.e., calcified lymph node, antrolith, rhinolith, phlebolith, and osteoma cutis. STCs were found to be more prevalent in middle-aged patients and in females. A significant relationship was identified between the presence of carotid artery calcification and calcified superior horn of thyroid cartilage (CSHTC), as well as between the presence of CSHTC and CTC. Calcifications were detected either bilaterally (n = 2,003) or unilaterally (n = 2,388); however, OSHC mostly showed bilateral calcifications (8.5%). Conclusions Panoramic radiographs of dental patients reveal the frequent occurrence of STCs in the head and neck region with differing radiographic features. Certain calcifications show gender and age differences. Accurate detection of STCs may guide the identification of potential underlying diseases and help initiate referral to the relevant multidisciplinary teams.

Underreporting of perforating osteoma cutis: A call for recognition and diagnostic consistency.

Underreporting of perforating osteoma cutis: A call for recognition and diagnostic consistency.

44470 Bursting into the scene: A second case report of solitary de novo perforating osteoma cutis

44470 Bursting into the scene: A second case report of solitary de novo perforating osteoma cutis

Numerous osteoma cutis on the scalp caused by GNAS mutation

Numerous osteoma cutis on the scalp caused by GNAS mutation

Osteoma cutis of the scalp on a background of hair loss surgeries.

We present a case report about a patient with osteoma cutis of the scalp on a background of multiple hair loss surgeries.

Atrophic macules containing mesenchymal cells are precursor lesions of osteoma cutis in Albright hereditary osteodystrophy.

A newborn presented numerous small violaceous and atrophic macules randomly distributed over the body surface, with no other skin or relevant systemic signs. A skin biopsy showed mild hypercellularity with spindle-shaped cells that stained positively for alpha smooth muscle actin (SMA) and were negative for CD34 and S100. By the age of 18 months, the patient developed obesity, multi-hormone resistance and his skin lesions became indurated; a skin biopsy at this time showed osteoma cutis. The diagnosis of Albright hereditary osteodystrophy (AHO) was made and confirmed by GNAS sequencing. We characterize the skin lesions preceding osteoma cutis as atrophic violaceous macules containing a proliferation of SMA+ mesenchymal cells similar to myofibroblasts in the upper and mid dermis. We speculate that these cells may represent primitive mesenchymal osteoprogenitor cells, from which intramembranous ossification develops as direct conversion of mesenchyme into bone. This article is protected by copyright. All rights reserved.

A rare presentation of secondary multiple miliary osteoma cutis

A rare presentation of secondary multiple miliary osteoma cutis

Periungual Osteoma Cutis - A Rare Occurrence.

Periungual Osteoma Cutis - A Rare Occurrence.

A Case of Genetically Confirmed Pseudohypoparathyroidism Type 1a Presented with Multifocal Plate-Like Osteoma Cutis and Review of Literature.

A Case of Genetically Confirmed Pseudohypoparathyroidism Type 1a Presented with Multifocal Plate-Like Osteoma Cutis and Review of Literature.

Acquired Perforating Osteoma Cutis: A Rare Histopathological Diagnosis.

Perforating osteoma cutis is a benign proliferation of mature bone within the dermis and subcutaneous tissue of the skin with transepidermal elimination. Transepidermal elimination of bone is the hallmark of perforating osteoma cutis and is defined by the breaching of bone through the epidermis. Perforating osteoma cutis is exceptionally rare because only 6 cases have been recorded in the literature at the time of preparation of this report. In this report, we present the case of a 65-year-old female patient with a medical history of nonmelanoma skin cancer, hypertension, hyperlipidemia, and type II diabetes mellitus presented for evaluation of a skin lesion of the posterior lower left leg, which had been present for 1 year. Clinical and histopathologic findings were consistent with the diagnosis of acquired perforating osteoma cutis. Treatment with surgical removal by tangential biopsy has thus far proven to be both diagnostic and therapeutic because no recurrence has been noted as of 6 months.

Osteoma cutis and medulloblastoma due to heterozygous inactivating GNAS mutation - a rare association due to reduced GNAS expression in tissues

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

MEDB-57.GNAS inactivation as a driver for sonic hedgehog-activated medulloblastoma

INTRODUCTION: Sonic hedgehog (SHH)-activated medulloblastoma is one of the four consensus molecular subgroups of medulloblastoma and is typically associated with PTCH1, SUFU, and/or SMO mutations. GNAS inactivating mutations are a less commonly recognized tumorigenic driver for SHH pathway activation. CASE PRESENTATION: We report the case of an 11-month-old male who presented with a large posterior fossa mass, cerebellar tonsillar herniation, and obstructive hydrocephalus. Following a successful gross total resection, pathology was consistent with desmoplastic/nodular medulloblastoma. Tumor molecular profiling using a DNA-based, next-generation sequencing platform detected a pathogenic frameshift mutation in the GNAS gene (p.D189Mfs*14, NM_000516.4:c.565_568del) at a variant allele frequency of 81%, suggestive of biallelic GNAS inactivation. The same mutation was detected from a buccal swab sample, confirming germline GNAS inactivation. Whole genome methylation profiling was consistent with medulloblastoma subclass SHH B (infant). Concurrent with this brain tumor evaluation, a skin biopsy was performed of scattered subcutaneous, plate-like nodules distributed over the patient’s back and extremities. This revealed metaplastic-appearing cancellous bone within the dermis and subcutaneous tissue consistent with plate-like osteoma cutis. He was treated with high-dose chemotherapy followed by autologous stem cell rescue and remains disease-free 15 months from diagnosis. DISCUSSION: There have been scattered case reports describing germline loss-of-function GNAS mutations acting as tumorigenic drivers of SHH medulloblastoma. However, GNAS alterations are not covered by most standard diagnostic molecular sequencing panels for medulloblastoma. Other phenotypic manifestations of germline inactivating GNAS mutations include pseudohypoparathyroidism, pseudopseudohypoparathyroidism, progressive osseous heteroplasia, and osteoma cutis. CONCLUSION: Knowledge of the possible association between germline GNAS inactivating mutations and the development of childhood SHH-activated medulloblastoma is essential for prompt diagnosis and treatment initiation. As such, consideration should be given for inclusion of GNAS alterations in diagnostic medulloblastoma sequencing panels, especially in the setting of osteoma cutis or other endocrinopathies.

Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children

BackgroundThe GNAS gene on chromosome 20q13.3, encodes the alpha-subunit of the stimulatory G protein, which is expressed in most tissues and regulated through reciprocal genomic imprinting. Disorders of GNAS inactivation produce several different clinical phenotypes including pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). The clinical and biochemical characteristics overlap of PHP subtypes and other related disorders presents challenges for differential diagnosis.MethodsWe enrolled a total of 11 Chinese children with PHP in our study and analyzed their clinical characteristics, laboratory results, and genetic mutations.ResultsAmong these 11 patients, nine of them (9/11) presented with resistance to parathyroid hormone (PTH); and nine (9/11) presented with an Albright′s hereditary osteodystrophy (AHO) phenotype. GNAS abnormalities were detected in all 11 patients, including nine cases with GNAS gene variations and two cases with GNAS methylation defects. These GNAS variations included an intronic mutation (c.212 + 3_212 + 6delAAGT), three missense mutations (c.314C > T, c.308 T > C, c.1123G > T), two deletion mutations (c.565_568delGACT*2, c.74delA), and two splicing mutations (c.721 + 1G > A, c.432 + 1G > A). Three of these mutations, namely, c.314C > T, c.1123G > T, and c.721 + 1G > A, were found to be novel. This data was then used to assign a GNAS subtype to each of these patients with six cases diagnosed as PHP1a, two cases as PHP1b, one as PPHP, and two as POH.ConclusionsEvaluating patients with PTH resistance and AHO phenotype improved the genetic diagnosis of GNAS mutations significantly. In addition, our results suggest that when GNAS gene sequencing is negative, GNAS methylation study should be performed. Early genetic detection is required for the differential diagnosis of GNAS disorders and is critical to the clinician’s ability to distinguish between heterotopic ossification in the POH and AHO phenotype.

Chondroid syringoma with osteoma cutis

A 26-year-old man presented with an asymptomatic, slow-growing nodule on upper portion of the left cutaneous lip that had been present for approximately 2 years. He denied any bleeding, ulceration, or prior trauma to that area. Physical examination demonstrated a smooth-surfaced, firm, pedunculated nodule measuring approximately 1.1 cm in diameter (Fig 1). Nonpolarized dermatoscopy revealed a light pink nodule with white pleomorphic globules and irregularly enlarged branching telangiectasias conferring a marbled appearance (Fig 2). Histology demonstrated a well-circumscribed lobulated dermal nodule composed of epithelial structures in a myxomatous and chondroid stroma with irregular branching tubules and ducts. Calcium was present as well as focal areas of ossification (Fig 3, A-C).Key messageChondroid syringomas represent a relatively rare, mixed tumor of the skin that is thought to be of apocrine or eccrine origin. They commonly present as an asymptomatic, slow-growing nodule on the head and neck of older men.1Palit A. Sethy M. Nayak A.K. Ayyanar P. Behera B. Dermoscopic features in a case of chondroid syringoma.Indian J Dermatol Venereol Leprol. 2021; 87: 89-92https://doi.org/10.4103/ijdvl.IJDVL_167_20Crossref PubMed Scopus (2) Google Scholar Histologically, they present with varying ductal epithelial structures distributed within a chondromyxoid and fibrous stroma.1Palit A. Sethy M. Nayak A.K. Ayyanar P. Behera B. Dermoscopic features in a case of chondroid syringoma.Indian J Dermatol Venereol Leprol. 2021; 87: 89-92https://doi.org/10.4103/ijdvl.IJDVL_167_20Crossref PubMed Scopus (2) Google Scholar The presence of ossification in chondroid syringoma is exceedingly rare.2Bedir R. Yurdakul C. Sehitoglu I. Gucer H. Tunc S. Chondroid syringoma with extensive bone formation: a case report and review of the literature.J Clin Diagn Res. 2014; 8: FD15-FD17https://doi.org/10.7860/JCDR/2014/10026.5003Crossref PubMed Scopus (2) Google Scholar Dermatoscopy can provide an adjunctive measure for diagnosis of this adnexal neoplasm. The most predominant dermatoscopic feature for distinguishing dystrophic calcification and ossification in this tumor is the presence of white pleomorphic dots and globules, which, combined with the arborizing-like vessels, impart a marbled appearance. This is a novel dermatoscopic feature not previously reported.1Palit A. Sethy M. Nayak A.K. Ayyanar P. Behera B. Dermoscopic features in a case of chondroid syringoma.Indian J Dermatol Venereol Leprol. 2021; 87: 89-92https://doi.org/10.4103/ijdvl.IJDVL_167_20Crossref PubMed Scopus (2) Google Scholar Definitive treatment is by wide local excision with clear margins for prevention of recurrence.2Bedir R. Yurdakul C. Sehitoglu I. Gucer H. Tunc S. Chondroid syringoma with extensive bone formation: a case report and review of the literature.J Clin Diagn Res. 2014; 8: FD15-FD17https://doi.org/10.7860/JCDR/2014/10026.5003Crossref PubMed Scopus (2) Google Scholar Chondroid syringomas represent a relatively rare, mixed tumor of the skin that is thought to be of apocrine or eccrine origin. They commonly present as an asymptomatic, slow-growing nodule on the head and neck of older men.1Palit A. Sethy M. Nayak A.K. Ayyanar P. Behera B. Dermoscopic features in a case of chondroid syringoma.Indian J Dermatol Venereol Leprol. 2021; 87: 89-92https://doi.org/10.4103/ijdvl.IJDVL_167_20Crossref PubMed Scopus (2) Google Scholar Histologically, they present with varying ductal epithelial structures distributed within a chondromyxoid and fibrous stroma.1Palit A. Sethy M. Nayak A.K. Ayyanar P. Behera B. Dermoscopic features in a case of chondroid syringoma.Indian J Dermatol Venereol Leprol. 2021; 87: 89-92https://doi.org/10.4103/ijdvl.IJDVL_167_20Crossref PubMed Scopus (2) Google Scholar The presence of ossification in chondroid syringoma is exceedingly rare.2Bedir R. Yurdakul C. Sehitoglu I. Gucer H. Tunc S. Chondroid syringoma with extensive bone formation: a case report and review of the literature.J Clin Diagn Res. 2014; 8: FD15-FD17https://doi.org/10.7860/JCDR/2014/10026.5003Crossref PubMed Scopus (2) Google Scholar Dermatoscopy can provide an adjunctive measure for diagnosis of this adnexal neoplasm. The most predominant dermatoscopic feature for distinguishing dystrophic calcification and ossification in this tumor is the presence of white pleomorphic dots and globules, which, combined with the arborizing-like vessels, impart a marbled appearance. This is a novel dermatoscopic feature not previously reported.1Palit A. Sethy M. Nayak A.K. Ayyanar P. Behera B. Dermoscopic features in a case of chondroid syringoma.Indian J Dermatol Venereol Leprol. 2021; 87: 89-92https://doi.org/10.4103/ijdvl.IJDVL_167_20Crossref PubMed Scopus (2) Google Scholar Definitive treatment is by wide local excision with clear margins for prevention of recurrence.2Bedir R. Yurdakul C. Sehitoglu I. Gucer H. Tunc S. Chondroid syringoma with extensive bone formation: a case report and review of the literature.J Clin Diagn Res. 2014; 8: FD15-FD17https://doi.org/10.7860/JCDR/2014/10026.5003Crossref PubMed Scopus (2) Google Scholar None disclosed.

Benign skin neoplasms in children

There are many different types of skin neoplasms in children and most are benign. Dermatologists should be able to differentiate between the various types of benign skin neoplasms and be able to recommend optimal treatment to concerned patients. Surgical removal of benign skin neoplasms is often the only treatment option. The aim of this paper is to provide a general overview of epidermal lesions (e.g., inflammatory linear verrucous epidermal nevus [ILVEN], nevus sebaceous), tumors of the epidermal appendages (e.g. pilomatrixoma), cutaneous neoplasms (e.g. angiofibroma), fibromatoses (e.g., knuckle pads), tumors comprised of fat, muscle, or bone tissue (e.g., osteoma cutis, subungual exostosis), epidermal cysts and pseudocysts, and pathologic fibrosis reactions after dermal injury (keloid). Scientific data are scarce and only in the last decade has it been possible to perform histopathological examinations and genetic studies together with detailed phenotyping to gain new understanding of the pathogenetic mechanisms.

What do we know about osteoma cutis? Literature review. Clinical cases

This article summarises the data of epidemiology, etipathogenesis, a clinical picture, diagnosis and the treatment of osteoma cutis. The classification, a histological picture, the place of osteoma cutis from the point of view of the phenotype in relation to the information of the world literature are presented.
 Osteoma cutis is a rare benign disease characterised by the formation of the bone tissue in the dermis or subcutaneous fat. Two theories of the origin of osteoma cutis are of particular interest: the result of fibroblast metaplasia into osteoblasts or the differentiation of primitive mesenchymal cells into osteoblasts and their migration to an ectopic site. Diagnosis and differential diagnosis are based on the clinical examination, measurement of calcium, parathyroid hormone, x-ray and skin biopsy. The differential diagnosis involves many dermatoses, including ossified hair follicle, osteosarcoma, epidermoid cysts, fibromas, neurofibromas, basal cell carcinoma, etc. The approach to the treatment is to use non-invasive or invasive methods: tretinoin cream, dermabrasion and punch biopsy, YAG laser, scalpel excision, curettage and CO2 laser.
 We consider skin osteoma to be an underestimated dermatosis, since we have not found descriptions of such cases in reviews in the available Russian literature.

Infantile‐onset osteoma cutis with pseudopseudohypoparathyroidism

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