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Dermatology Practical & Conceptual Jan 2019
PubMed: 30775144
DOI: 10.5826/dpc.0901a07 -
Annals of Dermatology Aug 2015
PubMed: 26273166
DOI: 10.5021/ad.2015.27.4.452 -
Journal of the American Veterinary... Nov 2018
Topics: Animals; Bone Diseases, Metabolic; Dog Diseases; Dogs; Ossification, Heterotopic; Skin Diseases, Genetic
PubMed: 30311525
DOI: 10.2460/javma.253.9.1125 -
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 -
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 -
The Application of Clinical Genetics 2015Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating... (Review)
Review
Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase. POH is part of a spectrum of related genetic disorders, including Albright hereditary osteodystrophy, pseudohypoparathyroidism, and primary osteoma cutis, that share common features of superficial ossification and association with inactivating mutations of GNAS. The genetics, diagnostic criteria, supporting clinical features, current management, and prognosis of POH are reviewed here, and emerging therapeutic strategies are discussed.
PubMed: 25674011
DOI: 10.2147/TACG.S51064 -
Indian Dermatology Online Journal 2023
PubMed: 37266104
DOI: 10.4103/idoj.idoj_321_22 -
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 -
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 -
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