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Annals of Dermatology Aug 2015
PubMed: 26273166
DOI: 10.5021/ad.2015.27.4.452 -
Skinmed 2022A 39-year-old woman presented with a 4-year history of asymptomatic facial lesions that has progressively increased in number to become a cosmetic nuisance. These... (Review)
Review
A 39-year-old woman presented with a 4-year history of asymptomatic facial lesions that has progressively increased in number to become a cosmetic nuisance. These lesions have not responded to 6-months of topical 20% azelaic acid, 0.1% retinoic acid, and 20% vitamin C combination. She has had mild papulopustular acne. Her personal and family histories were unremarkable. On dermatologic examination, there were multiple flesh-colored to pigmented, firm ovoid to round papules, 2-5 mm in size, over the forehead and both cheeks (Figure 1). The dermatoscopic examination was nonspecific. Preliminary diagnoses were made of eccrine syringoma, steatocystoma multiplex, and papular elastorrhexis. A histopathologic examination from a punch biopsy displayed focal ossification within the dermis (Figure 2). Routine laboratory tests, including serum calcium, phosphorus, PTH, and vitamin D levels were within the normal ranges. A maxillofacial 3D CT scan, revealed multiple dermal and hypodermal ossifications, <3-5 mm in size-in the frontal, mandibular, and maxillary areas of the face (Figure 3). Scattered osteomas were also seen on the neck. A definitive diagnosis of multiple miliary osteoma cutis (MMOC) of the face and neck was firmly established based on clinical, histologic, and radiologic findings. Radiologically, the distribution and extent of the lesions were more pronounced than clinically anticipated. (. 2022;20:469-471).
Topics: Female; Humans; Adult; Military Personnel; Bone Diseases, Metabolic; Skin Diseases, Genetic; Sweat Gland Neoplasms
PubMed: 36537686
DOI: No ID Found -
Clinical and Experimental Dermatology Oct 2021
Topics: Bone Diseases, Metabolic; Chromogranins; GTP-Binding Protein alpha Subunits, Gs; Humans; Infant; Male; Mutation; Ossification, Heterotopic; Pseudopseudohypoparathyroidism; Skin; Skin Diseases, Genetic
PubMed: 34418133
DOI: 10.1111/ced.14700 -
Clinical, Cosmetic and Investigational... 2019Painful tumors of the skin present as dermal or subcutaneous nodules. They can originate from several sources: adipose tissue, cartilage degeneration, deposition of bone... (Review)
Review
Painful tumors of the skin present as dermal or subcutaneous nodules. They can originate from several sources: adipose tissue, cartilage degeneration, deposition of bone or calcium, eccrine glands, fibrous tissue, infiltration of benign (endometrium) or malignant (metastatic neoplasm) tissue, muscle, nerve, or vascular structures. Although pathologic evaluation of the lesion is necessary to determine the diagnosis, it is possible to make a reasonable differential diagnosis based on knowledge of prior tumors that have appeared as tender lesions. Two women with painful skin tumors - either osteoma cutis or an organizing thrombus - are described. Based on our clinical experience and review of the literature, 25 painful skin tumors were identified: hondrodermatitis nodularis helicis, ngioendotheliomatosis, eiomyoma, etastases, idradenoma, steoma cutis, lomus tumor, ibromyxoma, eiomyosarcoma, ccrine angiomatous hamartoma, ercum's disease, eizogenic pedal papule, eurilemmoma, ngiolipoma, euroma, ermatofibroma, ranular cell tumor, ndometriosis, hrombus, car, lue rubber bleb nevus, ngioma, alcinosis cutis, and eloid. An acronym - inspired by Charlotte's Web, a book that many children have read - that can be used as a memory aid for recalling the list of painful skin tumors is introduced: "CALM HOG FLED PEN AND GETS BACK".
PubMed: 30858718
DOI: 10.2147/CCID.S193359 -
Dermatology Online Journal Jan 2016Osteoma cutis is a rare soft tissue ossification of cutaneous tissue and may be primary or secondary. In the majorityof cases it is clinically asymptomatic and may...
BACKGROUND
Osteoma cutis is a rare soft tissue ossification of cutaneous tissue and may be primary or secondary. In the majorityof cases it is clinically asymptomatic and may detected incidentally on radiographic examination. Cone beam computed tomography (CBCT) has can be of great assistance in the detection of this asymptomatic lesion.
OBJECTIVES
In this retrospective study, the prevalence and different radiographic appearance of osteoma cutis was evaluated.
MATERIALS AND METHODS
A total of 6,500 CBCT images were evaluated for the presence of osteoma cutis. Ectopic existence of calcified tissue within the soft tissue of the dermis or epidermis that was incompatible with the calcification of other anatomic structures or soft tissue calcifications was considered to be osteoma cutis. Accordingly, the detected patterns were divided into four distinct groups: (1) a single nodule, (2) plate-like lesion, (3) single or multiple depth lesion(s), trans-epidermal, and (4) multiple, disseminated lesions of various sizes known as multiple miliary. The data were evaluated in terms of prevalence and variations. The frequency, total prevalence, percentage and the prevalence of different radiographic forms of this lesion were calculated.
RESULTS
One hundred and forty eight (2.27%) cases of 6,500 evaluated tomograms had osteoma cutis. Of these, 5 (0.07%) were in the form of a single nodule, 4 (0.06%) were single, plate-like lesions, 7 (0.1%) were multiple plate-like lesions, 2 (0.03%) were in the form of a deep thread-like lesion, and 130 (2%) presented as multiple disseminated lesions.
CONCLUSION
According to the radiographic views, osteoma cutis may be categorized into single nodular, single or multiple plate- like, deep, and multiple disseminated forms. Of the mentioned radiogarphic patterns, the multiple disseminated form (miliary) hada higher prevalence in our study. CBCT images enable accurate evaluation of the nature and frequency of osteoma cutis.
Topics: Adult; Aged; Bone Neoplasms; Cone-Beam Computed Tomography; Facial Neoplasms; Female; Humans; Imaging, Three-Dimensional; Male; Middle Aged; Ossification, Heterotopic; Osteoma; Skin; Skin Neoplasms
PubMed: 26990467
DOI: No ID Found -
Nature Reviews. Endocrinology Jun 2016Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the... (Review)
Review
Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key regulator of the cAMP signalling pathway, rather than of the parathyroid hormone (PTH) receptor itself. Despite the first description of this disorder dating back to 1942, later findings have unveiled complex epigenetic alterations in addition to classic mutations in GNAS underpining the molecular basis of the main subtypes of pseudohypoparathyroidism. Moreover, mutations in PRKAR1A and PDE4D, which encode proteins crucial for Gsα-cAMP-mediated signalling, have been found in patients with acrodysostosis. As acrodysostosis, a disease characterized by skeletal malformations and endocrine disturbances, shares clinical and molecular characteristics with pseudohypoparathyroidism, making a differential diagnosis and providing genetic counselling to patients and families is a challenge for endocrinologists. Accumulating data on the genetic and clinical aspects of this group of diseases highlight the limitation of the current classification system and prompt the need for a new definition as well as for new diagnostic and/or therapeutic algorithms. This Review discusses both the current understanding and future challenges for the clinical and molecular diagnosis, classification and treatment of pseudohypoparathyroidism.
Topics: Bone Diseases, Metabolic; Chromogranins; Chromosome Deletion; Chromosomes, Human, Pair 2; Cyclic AMP; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; Cyclic Nucleotide Phosphodiesterases, Type 4; Diagnosis, Differential; Dysostoses; Epigenesis, Genetic; GTP-Binding Protein alpha Subunits, Gs; Humans; Intellectual Disability; Ossification, Heterotopic; Osteochondrodysplasias; Pseudohypoparathyroidism; Signal Transduction; Skin Diseases, Genetic
PubMed: 27109785
DOI: 10.1038/nrendo.2016.52 -
Current Opinion in Pharmacology Jun 2018Heterotopic ossification (HO) involves the formation and accumulation of extraskeletal bone tissue at the expense of local tissues including muscles and connective... (Review)
Review
Heterotopic ossification (HO) involves the formation and accumulation of extraskeletal bone tissue at the expense of local tissues including muscles and connective tissues. There are common forms of HO that are triggered by extensive trauma, burns and other bodily insults, and there are also rare congenital severe forms of HO that occur in children with Fibrodysplasia Ossificans Progressiva or Progressive Osseous Heteroplasia. Given that HO is often preceded by inflammation, current treatments usually involve anti-inflammatory drugs alone or in combination with local irradiation, but are not very effective. Recent studies have provided novel insights into the pathogenesis of acquired and genetic forms of HO and have used the information to conceive and test new and more specific therapies in animal models. In this review, I provide salient examples of these exciting and promising advances that are undoubtedly paving the way toward resolution of this debilitating and at times fatal disease.
Topics: Animals; Anti-Inflammatory Agents; Anti-Inflammatory Agents, Non-Steroidal; Bone Diseases, Metabolic; Bone and Bones; Drug Discovery; Genetic Predisposition to Disease; Humans; Molecular Targeted Therapy; Myositis Ossificans; Ossification, Heterotopic; Osteogenesis; Phenotype; Skin Diseases, Genetic
PubMed: 29614433
DOI: 10.1016/j.coph.2018.03.007 -
Cureus Aug 2018Osteoma cutis is the formation of bone within the skin. It can present as either primary osteoma cutis or secondary osteoma cutis. Secondary osteoma cutis is more common...
Osteoma cutis is the formation of bone within the skin. It can present as either primary osteoma cutis or secondary osteoma cutis. Secondary osteoma cutis is more common and is associated with inflammatory, infectious, and neoplastic disorders, including basal cell carcinoma. A 79-year-old Caucasian man without underlying kidney disease or calcium abnormalities presented with a basal cell carcinoma with osteoma cutis on the chin. Basal cell carcinoma with osteoma cutis has seldom been described; however, the occurrence of this phenomenon may be more common than suggested by the currently published literature. The preferred treatment is surgical excision-with or without using Mohs micrographic technique. When the histopathologic examination reveals bone formation in the skin, clinicians should consider the possible presence of an adjacent malignancy, such as a basal cell carcinoma.
PubMed: 30357056
DOI: 10.7759/cureus.3170 -
Journal of Cutaneous Pathology Dec 2023
Topics: Humans; Skin Diseases, Genetic; Bone Diseases, Metabolic; Ossification, Heterotopic; Skin Neoplasms
PubMed: 37743717
DOI: 10.1111/cup.14537 -
Human Mutation Jan 2015Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association with the features... (Review)
Review
Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association with the features of Albright's hereditary osteodystrophy (AHO). PHP1a is caused by maternally inherited inactivating mutations of Gs-alpha, which is encoded by a complex imprinted locus termed GNAS. Paternally inherited mutations can lead either to pseudopseudohypoparathyroidism (PPHP) characterized by AHO alone, or to progressive osseous heteroplasia (POH), characterized by severe heterotopic ossification. The clinical aspects and molecular genetics of PHP1a and its related disorders are reviewed together with the 343 kindreds with Gs-alpha germline mutations reported so far in the literature. These 343 (176 different) mutations are scattered throughout the 13 exons that encode Gs-alpha and consist of 44.9% frameshift, 28.0% missense, 14.0% nonsense, and 9.0% splice-site mutations, 3.2% in-frame deletions or insertions, and 0.9% whole or partial gene deletions. Frameshift and other highly disruptive mutations were more frequent in the reported 37 POH kindreds than in PHP1a/PPHP kindreds (97.3% vs. 68.7%, P < 0.0001). This mutation update and respective genotype-phenotype data may be of use for diagnostic and research purposes and contribute to a better understanding of these complex disorders.
Topics: Animals; Bone Diseases, Metabolic; Chromogranins; GTP-Binding Protein alpha Subunits, Gs; Genetic Association Studies; Genetic Predisposition to Disease; Genomic Imprinting; Humans; Mutation; Ossification, Heterotopic; Pseudohypoparathyroidism; Skin Diseases, Genetic
PubMed: 25219572
DOI: 10.1002/humu.22696