Primary Osteoma Research Articles

Первичная остеома орбиты (случай из практики)

Purpose. The article describes a case of primary osteoma of the orbit. The peculiarities of this case are the absence of pronounced symptoms in case of a large neoplasm, the preservation of binocular vision with a sufficiently large displacement of the eyeball and the preservation of high visual functions, despite the compression of the eyeball, as well as the access and technical difficulties of surgical removal of the osteoma, which required the involvement of a hospital neurosurgeon. Keywords: primary osteoma of the orbit, upper orbitotomy

Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appearing during adolescence and not early childhood

Progressive osseous heteroplasia (POH), a genetic disorder, is associated with Albright's hereditary osteodystrophy (AHO), pseudohypoparathyroidism, and primary osteoma cutis and has common features of superficial ossification and GNAS-inactivating mutations. Disorders due to GNAS-inactivating mutations are classified as "inactivating parathyroid hormone (PTH)/PTHrP signaling disorder type 2." This study reports a case of mild POH overlap syndrome to improve understanding of genotype-phenotype correlations. A 13-year and 6-month-old Japanese boy was referred to our hospital with a chief complaint of the lower limb length difference. He underwent clinical, biochemical, radiological, and genetic studies. He showed sporadic GNAS mutation, deep ectopic ossification, small for gestational age (SGA), congenital tooth defect, and lack of AHO features; he met the diagnostic criteria for POH, and mild PTH and TSH resistance was detected. He had constant hyperphosphatasemia and hypocalciuria. At the age of 10 years, he occasionally experienced high iPTH levels. The pituitary stimulation test showed a normal response of all hormones at 3 years of age, but TSH response was decreased (previously 0.770, peak value 4.144 μIU/mL) in the TRH loading test at age 13 years and 6 months. DNA analysis showed a heterozygous p.D189MfsTer14 mutation of GNAS. The parents did not carry this mutation. We report a rare case of POH overlap syndrome with PTH/TSH resistance that appeared in adolescence rather than early childhood. Cases diagnosed with POH in early childhood also require reassessment during adolescence. Further studies of the GNAS heterozygous mutation p.D189MfsTer14 may reveal factors involved in POH overlap syndrome.

Clinical analysis of 11 children with primary osteoma cutis

Objective To investigate clinical manifestations, pathological features and outcomes of primary osteoma cutis in children. Methods Eleven children with confirmed primary osteoma cutis diagnosed in Department of Dermatology, Beijing Children′s Hospital between 2011 and 2018 were included into this study. The clinical manifestations, histopathological features, and outcomes were analyzed retrospectively. Results Among the 11 patients, 7 were males and 4 were females. Primary osteoma cutis occurred within 22 months after birth in all the children, the median age of onset was 1 month, and the disease occurred during the first 6 months of life in 10 children. The skin lesions were characterized by skin-colored or reddish indurated papules, plaques or nodules of varying size with slight epidermal atrophy. Three patients had local skin lesions, and 8 had multiple skin lesions. Serum calcium and parathyroid hormone levels were within normal limits in all the children, and no developmental deformity was observed at birth in any of the children. Histopathological examination revealed the formation of mature lamellar bone in the dermis in all the cases, which involved the subcutaneous adipose tissue in 5 cases. The skin lesions became stable 8 - 18 months after the occurrence in 10 patients, which was consistent with primary plaque-like osteoma cutis. Only 1 patient underwent a slowly progressive course, and the skin lesions involved subcutaneous deep tissues, leading to dyskinesia, which was consistent with progressive osseous heteroplasia. Conclusions Primary osteoma cutis in children mostly occurs in infancy, whose clinical manifestations are atrophic, indurated plaques or nodules, and its main pathological feature is the formation of mature lamellar bone. Long-term follow-up is needed, and attention should be paid to the occurrence of progressive osseous heteroplasia. Key words: Ossification, heterotopic; Child; Osteoma cutis; Primary

Primary Osteoma Cutis in the Interscapular Region of a Dog

A 9-year-old neutered male Shih Tzu was presented with three contiguous firm nodules in the subcutaneous tissue of the interscapular region. Histopathological examination revealed that the nodules consisted of mature lamellar bone with a Haversian system, with no apparent lesion around the bone. Clinical examination revealed that the dog had no underlying disease and no history of trauma at the lesion site. Based on these findings and on the medical history, a diagnosis of primary osteoma cutis was made. Osteoma cutis is rare in both human and veterinary medicine, and most dogs reported to have secondary osteoma cutis. To our knowledge, this case is only the second report of primary osteoma cutis in a dog.

Multiple miliary osteoma cutis of the face associated with Albright hereditary osteodystrophy in the setting of acne vulgaris: a case report

Osteoma cutis is a condition characterized by theformation of bone within the skin. Such aberrantossification of the skin and subcutaneous tissue isconsidered primary when it arises in the absence ofunderlying tissue damage or a preceding cutaneouslesion. Conversely, secondary osteoma cutis occurswhen skin ossification is the result of a pre-existingskin lesion, trauma, or inflammatory process [1,2].Although rare, primary osteoma cutis has beenassociated with a number of different geneticdisorders. Albright hereditary osteodystrophy (AHO),a condition first described in 1942 by Fuller Albright,is an autosomal dominant metabolic disorder causedby a mutation in the GNAS1 gene [3]. This disease isassociated with a variety of phenotypic traits includingcutaneous ossification, short stature, brachydactyly,obesity, and mental retardation. It should be notedthat brachydactyly is the most specific feature of AHO[4]. However, owing to variable expressivity individualsmay present only with a subset of these symptoms [5,6]. The cutaneous ossification observed in patientswith AHO may be seen in infancy or early childhoodand is sometimes the earliest presenting symptom.Nonetheless, because clinical features of AHO canbe seen in the absence of metabolic derangements(i.e. normal serum calcium, phosphorus, and PTHlevels) an early diagnosis is often missed and delayedfor many years. Herein, we present a case of miliaryosteoma cutis of the face in a 68 year-old woman withphenotypic features of AHO and laboratory studiesconsistent with type 1a PHP.

A RARE CLINICAL CASE OF THE ISOLATED PRIMARY FRONTAL BONE OSTEOMA

To study a rare clinical case of isolated primary osteoma localized in the frontal bone, provide its detailed clinical and pathomorphological analysis, and evaluate statistical indicators of occurrence frequency and localization of facial skeleton osteomas during 2006-2015. The retrospective case records analysis of patients undergoing treatment in the ma-xillofacial department of Lviv Regional Clinical Hospital and suffering from facial skeleton osteomas was conducted. The clinical examination was carried out in accordance with the inspection protocol required for the examination of patients diagnosed with tumors and tumor-like neoplasms in a particular clinical case. Frontal and lateral views were used in the course of X-ray imaging. Histological studies included macroscopy and microscopy. According to the retrospective case record analysis made over the last 10 years 346 cases of facial bone osteoma were revealed and proved histologically comprising 3.7% of all benign osteogeneous maxillofacial tumors. For the first time in 10 years osteoma localized in the frontal bone had been revealed and thoroughly studied. Macroscopically - a semi-spherical and immovable neoformation 7cm in diameter of hard consistency, splaying out at 4cm and being adherent with the frontal bone. Roentgenologically - homogeneous intense shadowing of a round form with relatively distinct outlines complying with clinical sizes. According to the histological data, the tumor consists mostly of the solid osseous tissue and the spongy osseous tissue with the evident thickened trabeculas of the bone located in different directions. The analysis of historical data demonstrated extremely rare localization of primary osteoma of the frontal bone, and indicated the uniqueness of the case and significant clinical importance of its detailed study.

Primary Osteoma Cutis ‐ A case report

Osteoma Cutis is a rare disorder characterized by spontaneous bone formation beneath the skin. The disease can be primary with no preceeding cutaneous lesions or secondary with an underlying cause of cutaneous ossification such as metaplastic reactions to inflammatory, traumatic or neoplastic processes. Osteoma cutis is most often a secondary phenomenon to local tissue alteration or pre‐existing calcification. Primary osteoma cutis is exceedingly rare. Here we present to you a case – a 25 year old gentleman presenting with multiple swellings in the form of hard nodules like calcified tumours of varying sizes over his scalp, extremities, subungual regions, and over almost all the bony prominences of his body since the age of 5 years. The biopsy findings were consistent with Osteoma Cutis. The possible causes for secondary subcutaneous ossification were ruled out with appropriate investigations. Henceforth diagnosing Primary Osteoma Cutis. It can be easily confused with Tumour Cacinosis, which can be differentiated with a biopsy.

Clinical analysis of primary nasal sinus osteoma

To summarize and analyze the clinical features, diagnosis, surgical approaches and treatment outcomes of patients with primary nasal sinus osteoma. A retrospective review of 48 cases with primary nasal sinus osteoma treated from January 2007 to December 2013 was performed. All patients underwent preoperative CT scan and postoperative histopathologic examination. The surgical approaches included lateral rhinotomy in 14 cases, nasal endoscopic resection in 12 cases, coronal surgical incision craniotomy in 13 cases, combined craniofacial approach in 4 cases, and Caldwell-Luc approach in 5 cases. The postoperative pathological diagnosis consisted of 3 variants, including 20 for compact type and 15 for cancellous type, and 13 for mixed type. Six cases were lost to follow-up and 42 cases were followed up for 6-60 months, 5 cases recurred. The post-operative complications included sinus mucous cyst in 4 cases, cerebrospinal fluid leak in 3 cases. Nasal sinus osteoma are common. CT or MRI is helpful to evaluate the osteoma size, location and possible sources, and to make operation scheme. Surgery is the first choice for sinus osteoma. Lateral rhinotomy and nasal endoscopic resection can be applied to most sinus osteoma. The prognosis of sinus osteoma is good, with fewer recurrence.

Progressive osseous heteroplasia: diagnosis, treatment, and prognosis

Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase. POH is part of a spectrum of related genetic disorders, including Albright hereditary osteodystrophy, pseudohypoparathyroidism, and primary osteoma cutis, that share common features of superficial ossification and association with inactivating mutations of GNAS. The genetics, diagnostic criteria, supporting clinical features, current management, and prognosis of POH are reviewed here, and emerging therapeutic strategies are discussed.

Extramedullary acute leukemia developing in a pre‐existing osteoma cutis

Primary osteoma cutis (cutaneous ossification) is an uncommon disease in which there is bone formation within the skin in the absence of a demonstrable pre-existing condition. Osteoma cutis is a chronic and benign condition. We report a case of a 45-year-old man who developed extramedullary acute leukemia with a myeloid immunophenotype (myeloid sarcoma) with its initial presentation within an isolated pre-existing osteoma cutis in the post-auricular scalp without evidence of systemic acute leukemia or chronic myeloid stem cell disorders. The tumor was surgically excised without complications. Four months later, acute leukemia recurred in the contralateral posterior mandible and showed an immunophenotype consistent with acute lymphoblastic leukemia/lymphoma. The patient now has been treated by standard protocols for acute leukemia. The diagnosis of an extramedullary acute leukemia is challenging because of its inconsistent clinical and histopathologic presentations. Extramedullary acute leukemia developing in a pre-existing osteoma cutis is very unusual and has not been previously reported in the literature.

Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: First Italian series

Progressive osseous heteroplasia (POH) is a rare autosomal dominant disorder of mesenchymal differentiation characterized by progressive heterotopic ossification (HO) of dermis, deep connective tissues and skeletal muscle. Usually, initial bone formation occurs during infancy as primary osteoma cutis (OC) then progressively extending into deep connective tissues and skeletal muscle over childhood.Most cases of POH are caused by paternally inherited inactivating mutations of GNAS gene. Maternally inherited mutations as well as epigenetic defects of the same gene lead to pseudohypoparathyroidism (PHP) and Albright's hereditary osteodystrophy (AHO).During the last decade, some reports documented the existence of patients with POH showing additional features characteristic of AHO such as short stature and brachydactyly, previously thought to occur only in other GNAS-associated disorders. Thus, POH can now be considered as part of a wide spectrum of ectopic bone formation disorders caused by inactivating GNAS mutations.Here, we report genetic and epigenetic analyses of GNAS locus in 10 patients affected with POH or primary OC, further expanding the spectrum of mutations associated with this rare disease and indicating that, unlike PHP, methylation alterations at the same locus are absent or uncommon in this disorder.

Patterns of renal distal tubule PTH sensitivity in subtypes of pseudohypoparathyroidim

Progressive osseous heteroplasia (POH) is a rare autosomal dominant disorder of mesenchymal differentiation characterized by progressive heterotopic ossification (HO) of dermis, deep connective tissues and skeletal muscle. Usually, initial bone formation occurs during infancy as primary osteoma cutis (OC) then progressively extending into deep connective tissues and skeletal muscle over childhood.Most cases of POH are caused by paternally inherited inactivating mutations of GNAS gene. Maternally inherited mutations as well as epigenetic defects of the same gene lead to pseudohypoparathyroidism (PHP) and Albright's hereditary osteodystrophy (AHO).During the last decade, some reports documented the existence of patients with POH showing additional features characteristic of AHO such as short stature and brachydactyly, previously thought to occur only in other GNAS-associated disorders. Thus, POH can now be considered as part of a wide spectrum of ectopic bone formation disorders caused by inactivating GNAS mutations.Here, we report genetic and epigenetic analyses of GNAS locus in 10 patients affected with POH or primary OC, further expanding the spectrum of mutations associated with this rare disease and indicating that, unlike PHP, methylation alterations at the same locus are absent or uncommon in this disorder.

Panniculitis Ossificans Traumatica of the Lower Leg

Heterotopic bone formation in the skin, osteoma cutis, occurs in a variety of clinical settings. Primary osteoma cutis arises in otherwise unaffected skin, often in patients with systemic conditions, whereas secondary osteoma cutis is associated with cutaneous neoplasms and inflammation (metaplastic ossification). Metaplastic ossification almost exclusively affects the dermis. Presented is a patient with posttraumatic bone formation in the subcutaneous fat, panniculitis ossificans traumatica, an entity that has only rarely been reported.

Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism

We report three cases of primary osteoma cutis in children, two of whom (siblings) were associated with Albright's hereditary osteodystrophy (AHO), manifesting as short stature with autosomal dominant inheritance from the father, but no dysmorphic features and no parathyroid hormone (PTH) resistance. Osteoma cutis can manifest as an isolated skin disease, a secondary condition to other skin diseases (such as acne), or in association with several syndromes, including AHO, which in turn may be associated with PTH resistance. The management and prognosis of patients diagnosed with osteoma cutis is determined by whether the skin manifestation has occurred in isolation, in association with a syndrome, or as a secondary skin disease. These three paediatric cases highlight the importance of understanding the aetiology and associations of osteoma cutis in order to appropriately investigate and manage patients who present with this rare skin disease.

A case of giant primary osteoma cutis successfully treated with tissue expansion and surgical excision

A case of giant primary osteoma cutis successfully treated with tissue expansion and surgical excision

Osteoma Cutis: Report of One Case

Introduction: Osteoma Cutis is a rarely seen benign disease. The disease localizes in dermis and hypodermis and it is frequently asymptomatic. Pathogenesis is not fully known. It is separated into two groups: primary osteoma cutis and secondary osteoma cutis. Case Report: In this case presentation, a male patient aged 15 who has localized solid subcutaneous mass, is discussed. It was determined that the mass located on the front wall of abdomen was histopathologically osteoma cutis. Conclusion: After histopathologic verification of osteoma cutis case is performed, a detailed clinical and laboratory examination must certainly be done for differential diagnosis.

Primary osteoma of the orbit with atypic facial pain: case report and literature review

Osteoma is a benign, slowly growing tumor that mainly occurs in the bones and cavities of the middle third of the face, representing the most frequent benign tumor of the paranasal sinuses. It rarely originates primarily from the orbit. Most of these lesions develop in the fourth to fifth decades of life, and are more commonly encountered in males. In the English literature, there are so far three reported cases of primary osteoma of the orbit that originated from the sphenoid bone. Here we present another case of a primary osteoma of the orbit presenting with atypical facial pain and discuss the relevant literature.

Plaque‐like osteoma cutis with transepidermal elimination

Osteoma cutis is a rare lesion that consists of the presence of bone tissue within the dermis and/or hypodermis. It may be classified as primary osteoma cutis, when bone tissue develops in the skin without any pre-existing lesion and secondary osteoma cutis, which is more frequent and occurs when osseous tissue develops on a pre-existing lesion. We present a case of primary plaque-like osteoma cutis involving the scalp, left forehead and left cheek, which appeared in an adult male. Histopathological study showed several islands of mature osseous tissue involving the full thickness of the dermis. In some areas, there was also transepidermal elimination of bone spicules. We review the literature about previously reported similar cases.

Osteoma Cutis as the Presenting Feature of Albright Hereditary Osteodystrophy Associated with Pseudopseudohypoparathyroidism

Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing calcification. This illness is associated with Albright hereditary osteodystrophy (AHO), which is characterized by such physical features as a short stature, round face, obesity, brachydactyly and osteoma cutis. Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder that's characterized by resistance to parathyroid hormone, and PHP is present in most AHO patients. An AHO phenotype without hormonal resistance is called pseudopseudohypoparathyroidism (PPHP). Osteoma cutis is less common in patients with PPHP than in patients with PHP. We present here a case of osteoma cutis as the cardinal manifestation of AHO associated with PPHP. Osteoma cutis is an important sign of AHO and its significance should not be overlooked, even if the patient has normal values on the serum biochemical tests.

A Case of Primary Osteoma Cutis in an Infant

Neck nodules in an infant can occur due to varied etiology. One such condition is Osteoma Cutis.Osteoma Cutis is the organized deposition of calcium and phosphate within the skin, arranged in a manner seen in normal bone formation. It can occur de novo or secondary to systemic disease.We present here an infant with a primary Osteoma Cutis, which would help in understanding the presentation and treatment of the same. CASE REPORT A 4 month old baby boy was brought by his parents with the complaint of a small nodule noted in the back of the neck, since 3 weeks. There was no preceding history of trauma. Also, the possibility of birth trauma was denied by mother. On examination, the baby was active and playful without any systemic problems. There was a 3*2 cm firm non tender nodule in the subcutaneous plane in the postero lateral aspect of the neck. The skin overlying the swelling appeared normal. There were no other skin lesions and cervical lymph nodes were not palpable. Baseline bloods were within normal limits. The parents were keen in getting the nodule removed. The nodule was excised without difficulty after informed consent, under general anesthesia. Post operative course was uneventful and at 1 yr follow up the child is doing well with a fine scar. The specimen was a 4*3*2 cm lesion of skin with subcutaneous tissue. There was a gritty feel on sectioning the tissue. Upon hemotoxylin and eosin stain, the lesion revealed a circumscribed nodule in the dermis, extending into the subcutaneous tissue. Characteristic appearance of Osseous trabeculae enclosing fat and marrow cells pointed to the diagnosis of Osteoma Cutis (Fig 1 & 2). Figure 1 Fig : 1 Low power * 100, HE85:261-5. 2. Duperrat B. Cutaneous Osteomas. Study based on 24 personal cases. Ann dermatol Syphiligr 1961;88:11-31. 3. Roth L, Stowell RE, Hehrig EB. Cutaneous Ossification. Report of 120 cases and review of literature. Arch Pathol 1963;76:44-54. 4. Mackie RM. Soft tissue tumours. In: Textbook of Dermatology (RH Champion, JL Burton, DA Burur, SM Breathnach, Eds),6th edition, Vol 3 Oxford, Blackwell Scientific publications 1998; 2370. 5. Jerajani HR, Amladi ST, Patwardhan MP, Mahajan SA. Skin tumours and lymphoproliferative disorders. In: Textbook and Atlas of Dermatology (RG Valia, AR Valia, K Siddapa, Eds),I ed, Vol 2, Mumbai, Bhalani Publishing house, 1994:1068. A Case of Primary Osteoma Cutis in an Infant 3 of 3 Author Information Krishna Kumar G, MCh Specialist Paediatric Surgeon, HTAA, 25100 Kuantan, Malaysia S. Chitra, MD Consultant Pathologist, Institute of Child Health, Chennai 600008, India