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Dermatology Practical & Conceptual Jan 2019
PubMed: 30775144
DOI: 10.5826/dpc.0901a07 -
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 -
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 -
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 -
JAAD Case Reports Mar 2023
PubMed: 36873053
DOI: 10.1016/j.jdcr.2023.01.010 -
Endocrine Jun 2021Pseudohypoparathyroidism (PHP), the first known post-receptorial hormone resistance, derives from a partial deficiency of the α subunit of the stimulatory G protein... (Review)
Review
Pseudohypoparathyroidism (PHP), the first known post-receptorial hormone resistance, derives from a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key component of the PTH/PTHrP signaling pathway. Since its first description, different studies unveiled, beside the molecular basis for PHP, the existence of different subtypes and of diseases in differential diagnosis associated with genetic alterations in other genes of the PTH/PTHrP pathway. The clinical and molecular overlap among PHP subtypes and with different but related disorders make both differential diagnosis and genetic counseling challenging. Recently, a proposal to group all these conditions under the novel term "inactivating PTH/PTHrP signaling disorders (iPPSD)" was promoted and, soon afterwards, the first international consensus statement on the diagnosis and management of these disorders has been published. This review will focus on the major and minor features characterizing PHP/iPPSDs as a group and on the specificities as well as the overlap associated with the most frequent subtypes.
Topics: Bone Diseases, Metabolic; Dysostoses; Humans; Intellectual Disability; Ossification, Heterotopic; Osteochondrodysplasias; Parathyroid Hormone; Pseudohypoparathyroidism; Skin Diseases, Genetic
PubMed: 33179219
DOI: 10.1007/s12020-020-02533-9 -
Dermatology Online Journal Apr 2017We report a healthy, 44-year-old woman presenting with an at least a 20-year history of hardened papules in the forehead region, extending to the scalp. The biopsy and... (Review)
Review
We report a healthy, 44-year-old woman presenting with an at least a 20-year history of hardened papules in the forehead region, extending to the scalp. The biopsy and histopathologic exam confirmed a diagnosis of osteoma cutis. We review the literature review and discuss the classification of the cutaneous ossification process presented, along with the results of the surgical treatment.
Topics: Adult; Biopsy; Bone Diseases, Metabolic; Dermoscopy; Facial Dermatoses; Female; Forehead; Humans; Ossification, Heterotopic; Skin; Skin Diseases, Genetic
PubMed: 28541879
DOI: No ID Found -
Cureus Jun 2019Osteoma cutis is a benign cutaneous lesion characterized by the presence of bone within the dermis or subcutaneous fat. It most often develops in association with other...
Osteoma cutis is a benign cutaneous lesion characterized by the presence of bone within the dermis or subcutaneous fat. It most often develops in association with other skin lesions such as cutaneous tumors. Nevus sebaceus is a benign hamartoma of the skin that is composed of epidermal and dermal components. It most commonly appears on the scalp and may give rise to either benign or malignant secondary neoplasms. The clinical and pathologic features of a 36-year-old man with a nevus sebaceus and associated osteoma cutis are described. In addition, osteoma cutis-associated neoplasms are reviewed. Secondary osteoma cutis has been observed with both benign and malignant neoplasms as well as various non-neoplastic skin conditions. However, to the best of our knowledge, osteoma cutis has not previously been described in association with nevus sebaceus. Nevus sebaceus can now be added to the list of cutaneous osteoma-associated skin tumors (COASTs).
PubMed: 31453032
DOI: 10.7759/cureus.4959 -
Journal of Cutaneous and Aesthetic... 2018Multiple miliary osteoma cutis is an uncommon condition presenting as multiple skin-colored papules of variable sizes on the face. A 48-year-old woman presented with...
Multiple miliary osteoma cutis is an uncommon condition presenting as multiple skin-colored papules of variable sizes on the face. A 48-year-old woman presented with multiple skin-colored hard papules on both cheeks. Examination revealed firm-to-hard dome-shaped asymptomatic papules in cluster over both cheeks. A punch biopsy was performed, which showed evidence of focal bony trabeculae with associated normal appendages. Few larger papules were incised and followed up with curettage of bony material and closed. All lesions could not be incised and removed because of large number of lesions in cluster.
PubMed: 30210214
DOI: 10.4103/JCAS.JCAS_54_17