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Clinical, Cosmetic and Investigational... 2021Osteoma cutis (OC) is a group of rare skin ossification diseases, most of which are secondary to inflammation, scarring, trauma, or tumors, but a small portion are...
Osteoma cutis (OC) is a group of rare skin ossification diseases, most of which are secondary to inflammation, scarring, trauma, or tumors, but a small portion are primary. Plate-like osteoma cutis is rare, especially after puberty. This report documents a case of a 30-year-old female, who presented with multiple stone-hard plates on the forehead and bilateral temples, with no relevant family history, or abnormalities in metabolism. These lesions showed slow progression over the last 11 years. The pathological diagnosis confirmed osteoma cutis. The forehead lesions were treated surgically due to aesthetic problems. In addition, long-term follow-up and observations are still needed to determine progression to deeper levels of tissue.
PubMed: 34588790
DOI: 10.2147/CCID.S325501 -
Case Reports in Dermatological Medicine 2014The authors present a rare case of osteoma cutis miliaris and briefly update the current knowledge about its clinic, pathogenesis, and therapeutic options.
The authors present a rare case of osteoma cutis miliaris and briefly update the current knowledge about its clinic, pathogenesis, and therapeutic options.
PubMed: 25177503
DOI: 10.1155/2014/347829 -
Journal of Clinical Research in... 2009Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype...
Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs not only to parathyroid hormone (PTH), but typically also to other hormones which signal via G protein coupled receptors including thyroid stimulating hormone (TSH), gonadotropins, and growth hormone releasing hormone. In addition, the phenotype of Albright hereditary osteodystrophy (AHO) is observed, which may include short stature, round facies, brachydactyly, obesity, ectopic soft tissue or dermal ossification (osteoma cutis) and psychomotor retardation with variable expression. We present a 2-year-old boy with PHP 1A who initially presented at age 3 weeks with congenital hypothyroidism. By 17 months of age, he manifested osteoma cutis, psychomotor retardation, obesity, brachydactyly and resistance to PTH with normocalcemia and mild hyperphosphatemia. Genetic analysis revealed a novel mutation in exon 13 of GNAS1 in our patient. This mutation, c.1100_1101insA, resulted in a frameshift and premature truncation of bases downstream. This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.We report a novel heterozygous mutation causing PHP1A with PTH and TSH resistance and AHO which has not been described previously. PHP1A is also a rare presentation of congenital hypothyroidism.
Topics: Bone Neoplasms; Calcinosis; Child, Preschool; Chromogranins; Congenital Hypothyroidism; Frameshift Mutation; GTP-Binding Protein alpha Subunits, Gs; Humans; Male; Osteoma; Pseudohypoaldosteronism
PubMed: 21274302
DOI: 10.4274/jcrpe.v1i5.244 -
Journal of the Royal Society of Medicine Aug 1983
Topics: Adult; Child; Child, Preschool; Female; Humans; Male; Osteoma; Skin Neoplasms
PubMed: 6887189
DOI: No ID Found -
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 -
Proceedings of the Royal Society of... Feb 1965
Topics: Bone Diseases, Metabolic; Calcinosis; Child; Foot Diseases; Hand Deformities; Humans; Hypoparathyroidism; Ossification, Heterotopic; Osteoma; Pathology; Pseudopseudohypoparathyroidism; Radiography; Skin Diseases; Skin Diseases, Genetic; Skin Neoplasms
PubMed: 14262017
DOI: No ID Found -
Journal of Medical Genetics Feb 1988We report a family with dominantly inherited ectopic ossification. It is characterised by childhood onset of multifocal subcutaneous ossifications (primary osteoma...
We report a family with dominantly inherited ectopic ossification. It is characterised by childhood onset of multifocal subcutaneous ossifications (primary osteoma cutis), which are of trivial clinical significance. One family member had extensive ectopic ossification involving one limb. We speculate that this may reflect somatic mutation having caused conversion to homozygosity.
Topics: Bone and Bones; Child; Choristoma; Female; Genes, Dominant; Homozygote; Humans; Infant; Male; Ossification, Heterotopic; Pedigree; Radiography; Skin Neoplasms
PubMed: 3126297
DOI: 10.1136/jmg.25.2.113 -
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