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Cureus Jul 2018In this study, we report a rare case of osteoma cutis (OC) and tonsillolith, diagnosed using cone beam computed tomography. The dystrophic calcifications in the face and...
In this study, we report a rare case of osteoma cutis (OC) and tonsillolith, diagnosed using cone beam computed tomography. The dystrophic calcifications in the face and tonsils were incidentally found during examination of the patient's scan with no relation to the main chief complaint. The diagnosis was OC, combined with dystrophic calcification of the tonsils. It is important to mention that OC is a rare soft-tissue ossification of cutaneous tissue, typically on the face and clinically asymptomatic. It may be primary but the majority of cases are secondary. Incidental finding of OC and tonsilloliths on a two-dimensional dental radiograph does not provide sufficient information concerning the location of these calcifications. Thus, cone beam computed tomography (CBCT) provides critical information for the diagnosis of asymptomatic OC lesions not available through any other means of clinical detection.
PubMed: 30250765
DOI: 10.7759/cureus.3003 -
European Journal of Pediatrics Feb 2017We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel...
UNLABELLED
We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. At the age of 35, he was diagnosed with Hodgkin's lymphoma. Recently, biallelic pathogenic variants in the RECQL4 gene were detected (c.1048_1049delAG and c.1391-1G>A), confirming a diagnosis of Rothmund-Thomson syndrome (RTS). In the brother of this patient, who had a milder phenotype, a similar diagnosis was made.
CONCLUSION
We conclude that COPS syndrome never existed as a separate syndrome entity. Instead, osteoma cutis may be regarded as a novel feature of RTS, whereas mild intellectual disability and lymphoma may be underreported parts of the phenotype. What is new: • Osteoma cutis was not a known feature in Rothmund-Thomson patients. • Intellectual disability may be considered a rare feature in RTS; more study is needed. What is known: • RTS is a well-described syndrome caused by mutations in the RECQL4 gene. • Patients with RTS frequently show chromosomal abnormalities like, e.g. mosaic trisomy 8.
Topics: Adult; Bone Diseases, Metabolic; Bone and Bones; Calcinosis; Chromosomes, Human, Pair 8; Delayed Diagnosis; Humans; Intellectual Disability; Lymphoma, Non-Hodgkin; Male; Ossification, Heterotopic; Osteoporosis; Rothmund-Thomson Syndrome; Skin Diseases, Genetic; Syndrome; Trisomy
PubMed: 28039508
DOI: 10.1007/s00431-016-2834-3 -
Cureus Mar 2019Osteoma cutis can occur as a primary or secondary cutaneous lesion. Isolated lesions of perforating osteoma cutis are uncommon and can present with varying clinical...
Osteoma cutis can occur as a primary or secondary cutaneous lesion. Isolated lesions of perforating osteoma cutis are uncommon and can present with varying clinical features. Adverse events that can occur following placement of a tattoo include benign and malignant neoplasms, dermatoses, infections, and miscellaneous complications. We present a case of a man who developed perforating osteoma cutis within a tattoo and propose that osteoma cutis be included among the list of adverse events that can occur in individuals who obtain a tattoo.
PubMed: 31183302
DOI: 10.7759/cureus.4323 -
BMC Endocrine Disorders Mar 2022The 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...
BACKGROUND
The 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.
METHODS
We enrolled a total of 11 Chinese children with PHP in our study and analyzed their clinical characteristics, laboratory results, and genetic mutations.
RESULTS
Among 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.
CONCLUSIONS
Evaluating 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.
Topics: Adolescent; Bone Diseases, Metabolic; Child; Child, Preschool; China; Chromogranins; Female; GTP-Binding Protein alpha Subunits, Gs; Humans; Infant; Male; Ossification, Heterotopic; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism; Skin Diseases, Genetic
PubMed: 35296306
DOI: 10.1186/s12902-022-00941-8 -
Cureus Sep 2023Background In this study, we aimed to determine the prevalence and radiographic features of incidental head and neck soft tissue calcifications (STCs) on panoramic...
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.
PubMed: 37766776
DOI: 10.7759/cureus.46025 -
Indian Journal of Dermatology,... 2017
Topics: Adult; Bone Diseases, Metabolic; Cutis Laxa; Female; Humans; Ossification, Heterotopic; Pseudoxanthoma Elasticum; Skin Diseases, Genetic
PubMed: 28540877
DOI: 10.4103/ijdvl.IJDVL_690_16 -
European Journal of Endocrinology Dec 2016Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which... (Review)
Review
OBJECTIVE
Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro assay to measure Gsa protein activity. However, this classification disregards other related diseases such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), as well as recent findings of clinical and genetic/epigenetic background of the different subtypes. Therefore, the EuroPHP network decided to develop a new classification that encompasses all disorders with impairments in PTH and/or PTHrP cAMP-mediated pathway.
DESIGN AND METHODS
Extensive review of the literature was performed. Several meetings were organised to discuss about a new, more effective and accurate way to describe disorders caused by abnormalities of the PTH/PTHrP signalling pathway.
RESULTS AND CONCLUSIONS
After determining the major and minor criteria to be considered for the diagnosis of these disorders, we proposed to group them under the term 'inactivating PTH/PTHrP signalling disorder' (iPPSD). This terminology: (i) defines the common mechanism responsible for all diseases; (ii) does not require a confirmed genetic defect; (iii) avoids ambiguous terms like 'pseudo' and (iv) eliminates the clinical or molecular overlap between diseases. We believe that the use of this nomenclature and classification will facilitate the development of rationale and comprehensive international guidelines for the diagnosis and treatment of iPPSDs.
Topics: Bone Diseases, Metabolic; Dysostoses; Europe; Humans; Intellectual Disability; Ossification, Heterotopic; Osteochondrodysplasias; Parathyroid Hormone; Parathyroid Hormone-Related Protein; Pseudohypoparathyroidism; Skin Diseases, Genetic
PubMed: 27401862
DOI: 10.1530/EJE-16-0107 -
AJNR. American Journal of Neuroradiology Apr 2017Osteoma cutis of the face represents a primary or secondary formation of ossific foci in the facial skin. Its primary form has been sparsely described in the plastic...
BACKGROUND AND PURPOSE
Osteoma cutis of the face represents a primary or secondary formation of ossific foci in the facial skin. Its primary form has been sparsely described in the plastic surgery and dermatology literature. As radiologists, we routinely encounter incidental, very small facial calcified nodules on CT studies performed for a variety of unrelated reasons. We hypothesized that this routinely encountered facial calcification represents primary miliary osteoma cutis and is a common, benign, age-related finding.
MATERIALS AND METHODS
We retrospectively reviewed 1315 consecutive sinus CTs obtained during an 8-month period and their associated demographics. The number of dermal radiopaque lesions with Hounsfield units of >150 was counted, and we analyzed the association between the prevalence of these lesions and patients' demographics with logistic regression methods.
RESULTS
Five hundred ninety-nine males and 716 females from 4 to 90 years of age were included in the study (mean, 52 versus 51 years; = .259). Among these, 252 males and 301 females had small facial calcified nodules (42.1% versus 42.0%, = .971). The patient's age was a statistically significant predictor for having facial calcified nodules (odds ratio = 1.02, < .001), while the patient's sex was not ( = .826).
CONCLUSIONS
Facial calcified nodules, observed in routine head and face CT imaging, are common, benign, age-related findings, which have been largely overlooked in the radiology literature. It is a manifestation of primary miliary osteoma cutis.
Topics: Adolescent; Adult; Age Factors; Aged; Aged, 80 and over; Bone Diseases, Metabolic; Calcinosis; Child; Child, Preschool; Face; Facial Neoplasms; Female; Humans; Incidental Findings; Male; Middle Aged; Ossification, Heterotopic; Prevalence; Retrospective Studies; Sex Factors; Skin Diseases, Genetic; Tomography, X-Ray Computed; Young Adult
PubMed: 28232495
DOI: 10.3174/ajnr.A5096 -
Dermatology Online Journal Mar 2018Osteoma cutis, the development of bone in the dermis and/or subcutaneous fat, can occur as either a primary or secondary condition. Perforating osteoma cutis is rare. A...
Osteoma cutis, the development of bone in the dermis and/or subcutaneous fat, can occur as either a primary or secondary condition. Perforating osteoma cutis is rare. A man with a solitary lesion of perforating osteoma cutis is described and the features of individuals with a single perforating osteoma cutis skin lesion are reviewed. A solitary lesion of either primary or secondary perforating osteoma cutis has only been observed in two men and one woman; the lesions had been present from less than one month to 19 or 20 years prior to establishing the diagnosis. The lesion was either located on the forehead (two men) or the breast (one woman). The erythematous (two lesions) or flesh-colored nodules ranged in size from 8×8 millimeters to 1.5×0.5 centimeters. Each had epidermal perforation by bone through a central area that was either crateriform or crusted or keratotic. The clinical differential diagnosis included keratoacanthoma, phlebolith, pilomatricoma, pilomatrical carcinoma, and squamous cell carcinoma. The perforating osteoma cutis lesion was successfully treated with either excision or shave biopsy without recurrence at either 10 or 12-months follow-up.
Topics: Biopsy; Bone Diseases, Metabolic; Dermis; Diagnosis, Differential; Facial Neoplasms; Forehead; Humans; Male; Ossification, Heterotopic; Skin Diseases, Genetic
PubMed: 29634878
DOI: No ID Found -
Indian Dermatology Online Journal 2020Progressive osseous heteroplasia (POH) is a rare genetic condition of progressive extraskeletal bone formation. POH is clinically suspected by cutaneous ossification,...
Progressive osseous heteroplasia (POH) is a rare genetic condition of progressive extraskeletal bone formation. POH is clinically suspected by cutaneous ossification, usually presenting in early life, that involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. We report a case of POH in a 3-year-old child with multiple nontender subcutaneous nodules which, on radiology and histopathology, showed intracutaneous bone formation. Although there is no specific and effective treatment, knowledge about this entity is necessary for early detection and genetic counseling of parents.
PubMed: 32832452
DOI: 10.4103/idoj.IDOJ_502_19