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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 -
QJM : Monthly Journal of the... Jun 2024
Topics: Humans; Pseudohypoparathyroidism; Skin Diseases, Genetic; Ossification, Heterotopic; Female; Male; Bone Diseases, Metabolic
PubMed: 38265255
DOI: 10.1093/qjmed/hcae017 -
Best Practice & Research. Clinical... Dec 2018Metabolic disorders caused by impairments of the Gsα/cAMP/PKA pathway affecting the signaling of PTH/PTHrP lead to features caused by non-responsiveness of target... (Review)
Review
Metabolic disorders caused by impairments of the Gsα/cAMP/PKA pathway affecting the signaling of PTH/PTHrP lead to features caused by non-responsiveness of target organs, in turn leading to manifestations similar to the deficiency of the hormone itself. Pseudohypoparathyroidism (PHP) and related disorders derive from a defect of the α subunit of the stimulatory G protein (Gsα) or of downstream effectors of the same pathway, such as the PKA regulatory subunit 1A and the phosphodiesterase type 4D. The increasing knowledge on these diseases made the actual classification of PHP outdated as it does not include related conditions such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), so that a new nomenclature and classification has been recently proposed grouping these disorders under the term "inactivating PTH/PTHrP signaling disorder" (iPPSD). This review will focus on the pathophysiology, clinical and molecular aspects of these rare, heterogeneous but closely related diseases.
Topics: Bone Diseases, Metabolic; Drug Resistance; Dysostoses; Endocrine System Diseases; GTP-Binding Protein alpha Subunits, Gs; Humans; Intellectual Disability; Ossification, Heterotopic; Osteochondrodysplasias; Parathyroid Hormone; Parathyroid Hormone-Related Protein; Pseudohypoparathyroidism; Signal Transduction; Skin Diseases, Genetic; Syndrome
PubMed: 30665554
DOI: 10.1016/j.beem.2018.09.008 -
Journal of Comparative Pathology Jan 2019A 9-year-old neutered male Shih Tzu was presented with three contiguous firm nodules in the subcutaneous tissue of the interscapular region. Histopathological...
A 9-year-old neutered male Shih Tzu was presented with three contiguous firm nodules in the subcutaneous tissue of the interscapular region. Histopathological examination revealed that the nodules consisted of mature lamellar bone with a Haversian system, with no apparent lesion around the bone. Clinical examination revealed that the dog had no underlying disease and no history of trauma at the lesion site. Based on these findings and on the medical history, a diagnosis of primary osteoma cutis was made. Osteoma cutis is rare in both human and veterinary medicine, and most dogs reported to have secondary osteoma cutis. To our knowledge, this case is only the second report of primary osteoma cutis in a dog.
Topics: Animals; Bone Diseases, Metabolic; Dog Diseases; Dogs; Male; Ossification, Heterotopic; Skin Diseases, Genetic
PubMed: 30691600
DOI: 10.1016/j.jcpa.2018.10.176 -
Dermatology Online Journal Mar 2018Osteoma cutis, the development of bone in the dermis and/or subcutaneous fat, can occur as either a primary or secondary condition. Perforating osteoma cutis is rare. A...
Osteoma cutis, the development of bone in the dermis and/or subcutaneous fat, can occur as either a primary or secondary condition. Perforating osteoma cutis is rare. A man with a solitary lesion of perforating osteoma cutis is described and the features of individuals with a single perforating osteoma cutis skin lesion are reviewed. A solitary lesion of either primary or secondary perforating osteoma cutis has only been observed in two men and one woman; the lesions had been present from less than one month to 19 or 20 years prior to establishing the diagnosis. The lesion was either located on the forehead (two men) or the breast (one woman). The erythematous (two lesions) or flesh-colored nodules ranged in size from 8×8 millimeters to 1.5×0.5 centimeters. Each had epidermal perforation by bone through a central area that was either crateriform or crusted or keratotic. The clinical differential diagnosis included keratoacanthoma, phlebolith, pilomatricoma, pilomatrical carcinoma, and squamous cell carcinoma. The perforating osteoma cutis lesion was successfully treated with either excision or shave biopsy without recurrence at either 10 or 12-months follow-up.
Topics: Biopsy; Bone Diseases, Metabolic; Dermis; Diagnosis, Differential; Facial Neoplasms; Forehead; Humans; Male; Ossification, Heterotopic; Skin Diseases, Genetic
PubMed: 29634878
DOI: No ID Found -
Cutis Jan 2021
Review
PubMed: 36282787
DOI: 10.12788/cutis.0180 -
Journal of Cosmetic Dermatology Jan 2022
Topics: Bone Diseases, Metabolic; Botulinum Toxins; Humans; Keratosis, Seborrheic; Ossification, Heterotopic; Skin Diseases, Genetic; Skin Neoplasms
PubMed: 34716640
DOI: 10.1111/jocd.14575 -
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 -
European Journal of Medical Genetics May 2016Progressive osseous heteroplasia (POH) is a segmental disorder characterized by progressive heterotopic ossification that extends from dermal and subcutaneous tissues to... (Review)
Review
Progressive osseous heteroplasia (POH) is a segmental disorder characterized by progressive heterotopic ossification that extends from dermal and subcutaneous tissues to deeper structures. So far, it has been taken as a rarely occurring bone disease with autosomal dominant inheritance. Here, arguments are presented in favor of the alternative concept that the disorder is merely a type 2 segmental manifestation of autosomal dominant GNAS inactivation disorders. Type 2 segmental mosaicism arises, in a heterozygous embryo, from a somatic mutational event that occurs at an early developmental stage, resulting in loss of the corresponding wild-type allele and giving rise to a homozygous or hemizygous cell clone. As a characteristic feature, such type 2 segmental involvement is far more pronounced than the type 1 segmental mosaicism as noted in otherwise healthy individuals. The concept of type 2 segmental mosaicism has been proven at the molecular level in six human traits including neurofibromatosis 1, Hailey-Hailey disease, and Gorlin syndrome. In POH, molecular proof of principle is so far lacking. The following lines of reasoning, however, support the hypothesis that POH can be explained by a similar mechanism. Firstly, POH has been found to be associated with different phenotypes caused by inactivating GNAS mutations, which is why it cannot be categorized as one distinct Mendelian trait. Secondly, POH occurs as a rather rare complication of these autosomal dominant traits, which is not compatible with the assumption of a separate Mendelian disorder. Thirdly, in a case of plate-like osteoma that represents a more superficial variant of POH, molecular proof of the concept of type 2 segmental manifestation has already been provided, and the available literature suggests that POH can be best explained by a similar mechanism. Moreover, findings obtained in animal experiments support the assumption that human POH represents such superimposed segmental manifestation of GNAS inactivation disorders.
Topics: Alleles; Animals; Bone Diseases, Metabolic; Chromogranins; Disease Models, Animal; GTP-Binding Protein alpha Subunits, Gs; Heterozygote; Humans; Mosaicism; Mutation; Ossification, Heterotopic; Phenotype; Skin Diseases, Genetic
PubMed: 27058263
DOI: 10.1016/j.ejmg.2016.04.001 -
Veterinary Ophthalmology Sep 2016Osteoma cutis describes bone formation in skin and is well documented in the medical literature, but veterinary reports are few. We report a single case of a juvenile...
Osteoma cutis describes bone formation in skin and is well documented in the medical literature, but veterinary reports are few. We report a single case of a juvenile samoyed that was referred for assessment of a superior eyelid anomaly. Exploratory surgery and histopathology revealed the presence of mature, lamellar bone within the superior eyelid. The histologic appearance was consistent with primary osteoma cutis. The presence of the ossification within the deep dermis of the eyelid was associated with an abnormal conformation causing trichiasis, keratitis and dorsal strabismus. Identification of the osseous lesion during surgery and its removal was curative with no recurrence of disease during the 32 month follow-up period.
Topics: Animals; Bone Diseases, Metabolic; Dog Diseases; Dogs; Eyelid Diseases; Male; Ossification, Heterotopic; Skin Diseases, Genetic; Strabismus
PubMed: 26398878
DOI: 10.1111/vop.12314