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Skin Appendage Disorders Apr 2021Osteoma cutis (OC) or cutaneous ossification refers to uncommon bone formation in the skin. Primary OC develops without any predisposing factor or pre-existing lesion,...
Osteoma cutis (OC) or cutaneous ossification refers to uncommon bone formation in the skin. Primary OC develops without any predisposing factor or pre-existing lesion, whereas secondary OC sets out as a dystrophic ossification following traumatic, cicatricial, and neoplastic factors or other cutaneous inflammations. Herein, we report a rare case of long-standing progressive primary OC of the scalp resected in 3 sessions with no recurrence after 1 year.
PubMed: 34055911
DOI: 10.1159/000512785 -
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 -
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 -
The Journal of Veterinary Medical... May 2020An osteoma is an infrequent tumor documented in avian species. An adult female Peach-Faced Lovebird (Agapornis roseicollis) with a history of previous trauma was...
An osteoma is an infrequent tumor documented in avian species. An adult female Peach-Faced Lovebird (Agapornis roseicollis) with a history of previous trauma was examined due to the presence of bilateral hard and yellowish-white masses in the radio-cubital humerus junction. Histopathological dermal examination revealed a non-neoplastic process of mesenchymal origin, characterized by the formation of well-differentiated trabecular bone, multiple areas of medullary bone and loose connective tissue and coagulation of the necrosis foci. Based on the histological findings and the medical history, the masses were diagnosed as bilateral secondary osteoma cutis. To our knowledge, this is the first report of this pathology with an acute course in this exotic pet bird. The previous trauma could be the initiating cause.
Topics: Agapornis; Animals; Bird Diseases; Bone Diseases, Metabolic; Female; Ossification, Heterotopic; Skin Diseases, Genetic
PubMed: 32238670
DOI: 10.1292/jvms.19-0656 -
Annals of Dermatology Nov 2023
PubMed: 38061755
DOI: 10.5021/ad.22.120 -
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 -
International Journal of Trichology 2019
PubMed: 31007482
DOI: 10.4103/ijt.ijt_78_18 -
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 -
SAGE Open Medical Case Reports 2020Facial multiple miliary osteoma cutis is a variant of osteoma cutis usually occurring in women with a previous history of acne vulgaris. Successful ablative laser...
Facial multiple miliary osteoma cutis is a variant of osteoma cutis usually occurring in women with a previous history of acne vulgaris. Successful ablative laser treatment has been reported using both CO2 and Er:YAG lasers among other invasive treatment modalities, like surgical removal. We report a patient with biopsy-proven facial multiple miliary osteoma cutis responding to non-ablative Q-switched Nd:YAG laser therapy. The patient had excellent cosmesis without textural changes or hypopigmentation despite her Asian background after three sessions over 6 months. Multiple miliary osteoma cutis is therefore now amenable to non-surgical non-ablative therapy by using Q-switched Nd:YAG laser therapy reducing the risk of textural changes and hypopigmentation, especially in dark complexion and high-risk individuals. To our knowledge, this treatment approach has not been previously reported.
PubMed: 32180982
DOI: 10.1177/2050313X20910562 -
Clinical Case Reports Oct 2022The patient had a history of acne vulgaris at a young age. The excisional biopsy from the nodule of the face showed the findings of multiple miliary osteoma cutis...
The patient had a history of acne vulgaris at a young age. The excisional biopsy from the nodule of the face showed the findings of multiple miliary osteoma cutis (MMOC). As were identified in calcified nodules, may be one of the triggering factors for MMOC. MMOC patients need proper skin care because the subcutaneous calcification is slowly formed even after middle age.
PubMed: 36285033
DOI: 10.1002/ccr3.6492