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The American Journal of Dermatopathology Jun 2020Primary osteoma cutis is a rare condition belonging to a spectrum of related genetic disorders, including progressive osseous heteroplasia, plate-like osteoma cutis, and...
Primary osteoma cutis is a rare condition belonging to a spectrum of related genetic disorders, including progressive osseous heteroplasia, plate-like osteoma cutis, and Albright hereditary osteodystrophy, which share identical histologies with cutaneous intramembranous ossification and mutations in GNAS. We report a case of a 15-week-old girl who presented with an enlarging, indurated subcutaneous lesion on her right flank. CT scan showed an extensive subcutaneous sheet of calcification. Histologic evaluation revealed heterotopic calcification and intramembranous ossification within the dermis and mature bone largely replacing the subcutaneous fat compatible with osteoma cutis. Molecular testing was performed and identified an inactivating GNAS mutation. Unique to this case is a dermal proliferation of bland spindle cells that blended with deposited osteoid material. This has not been reported in association with primary osteoma cutis previously. These spindle cells were positive for CD44, Bcl-2, muscle-specific actin, and smooth muscle actin while negative for CD34. We hypothesize that these cells are immature mesenchymal cells, representing an early cellular phase of ossification. We favor these cells provide the background in which ossification is occurring, supporting the theory of osteoblastic metaplasia in the etiology of this condition.
Topics: Bone Diseases, Metabolic; Chromogranins; Female; GTP-Binding Protein alpha Subunits, Gs; Humans; Infant; Mutation; Ossification, Heterotopic; Skin Diseases, Genetic; Subcutaneous Tissue
PubMed: 31977320
DOI: 10.1097/DAD.0000000000001611 -
Medicina (Kaunas, Lithuania) Apr 2024Soft tissue calcifications frequently appear on imaging studies, representing a prevalent but non-specific discovery, varying from a local reaction without clear cause...
Soft tissue calcifications frequently appear on imaging studies, representing a prevalent but non-specific discovery, varying from a local reaction without clear cause to suggesting an underlying systemic condition. Because calcifications like these can arise from various causes, an accurate differential diagnosis is crucial. Differential diagnosis entails a methodical assessment of the patient, encompassing clinical presentation, medical history, radiological and pathological findings, and other pertinent factors. Through scrutiny of the patient's medical and trauma history, we can refine potential causes of calcification to vascular, metabolic, autoimmune, neoplastic, or traumatic origins. Furthermore, routine laboratory assessments, including serum levels of calcium, phosphorus, ionized calcium, vitamin D metabolites, and parathyroid hormone (PTH), aid in identifying metabolic etiologies. We describe a rare occurrence of osteoma cutis in a 15-year-old female patient with a history of pseudohypoparathyroidism (PHP) and Albright's hereditary osteodystrophy (AHO). The patient presented with a painful mass on the lateral side of her left foot. The diagnosis was based on medical history, laboratory tests, and imaging, leading to an excisional biopsy and complete pain relief post-surgery. Understanding such rare occurrences and related conditions is crucial for accurate diagnosis and management.
Topics: Humans; Female; Calcinosis; Pseudohypoparathyroidism; Adolescent; Diagnosis, Differential; Foot; Bone Diseases, Metabolic
PubMed: 38674241
DOI: 10.3390/medicina60040595 -
Indian Journal of Dermatology,... 2011
Topics: Adult; Follow-Up Studies; Humans; Male; Neoplasm Invasiveness; Neoplasm Staging; Osteoma; Risk Assessment; Scalp; Skin Neoplasms; Surgical Procedures, Operative; Tissue Expansion; Treatment Outcome; Wound Healing
PubMed: 21220893
DOI: 10.4103/0378-6323.75005 -
Proceedings of the Royal Society of... Feb 1965
Topics: Bone Diseases, Metabolic; Calcinosis; Child; Foot Diseases; Hand Deformities; Humans; Hypoparathyroidism; Ossification, Heterotopic; Osteoma; Pathology; Pseudopseudohypoparathyroidism; Radiography; Skin Diseases; Skin Diseases, Genetic; Skin Neoplasms
PubMed: 14262017
DOI: No ID Found -
Cases Journal Jul 2009Osteoma cutis of the foot is extremely rare and there are very few reported cases. The incidence of in-growing toenail in the United Kingdom is estimated to be 10,000...
Osteoma cutis of the foot is extremely rare and there are very few reported cases. The incidence of in-growing toenail in the United Kingdom is estimated to be 10,000 new cases per year and many are treated non-operatively. We present a case where osteoma cutis was masquerading as an in-growing toenail, and wish to highlight the condition as a differential diagnosis for this condition. There have been case reports of bony cutaneous lesions of the foot, both benign and malignant and so these are especially important to consider in the differential diagnoses where non-operative management is being considered.
PubMed: 19829929
DOI: 10.4076/1757-1626-2-7176 -
Journal of Ultrasound 2016Multiple miliaryosteoma cutis (MMOC) is a rare nodular skin disease, characterized by tiny bone nodules in the dermis and subcutaneous tissue, presenting clinically as...
PURPOSE
Multiple miliaryosteoma cutis (MMOC) is a rare nodular skin disease, characterized by tiny bone nodules in the dermis and subcutaneous tissue, presenting clinically as multiple normochromic papules and nodules, usually on the face. We described the case of MMOC of the face in a woman, ultrasonically evaluated with very high frequency probe.
MATERIALS AND METHODS
A 45-year-old patient with multiple papules, 3-5 mm in diameter, grouped in the frontal region. Skin ultrasound examination, cutaneous biopsy and laboratory evaluation were performed.
RESULTS
High-frequency ultrasound showed the presence of multiple hyperechogenic linear and roundish structures, associated by hypoechogenic shadow. The histology revealed a normal orthokeratotic stratified epithelium with fragment of mature lamellar bone localized at level of the reticular dermis. Laboratory evaluation was normal. According to the clinical, pathological, laboratory and instrumental analyses, a final diagnosis of miliaryosteoma cutis (or primary osteoma cutis not associated with Albright's hereditary osteodystrophy) was made.
CONCLUSION
In case of multiple papules of subcutaneous tissue, the diagnosis of MMOC, although rare, should be considered and high-frequency sonography, identifying the calcifications, suggests diagnosis.
Topics: Biopsy; Bone Diseases, Metabolic; Diagnosis, Differential; Facial Dermatoses; Female; Humans; Middle Aged; Ossification, Heterotopic; Skin Diseases, Genetic; Ultrasonography
PubMed: 27298645
DOI: 10.1007/s40477-015-0184-z -
American Journal of Medical Genetics.... Jul 2008Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep...
Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep skeletal muscle. POH occurs in the absence of multiple developmental features of Albright hereditary osteodystrophy (AHO) or hormone resistance, clinical manifestations that are also associated with GNAS inactivation. However, occasional patients with AHO and pseudohypoparathyroidism 1a/c (PHP1a/c; AHO features plus hormone resistance) have also been described who have progressive HO. This study was undertaken to define the diagnostic and mutational spectrum of POH and progressive disorders of HO, and to distinguish them from related disorders in which HO remains confined to the skin and subcutaneous tissues. We reviewed the charts of 111 individuals who had cutaneous and subcutaneous ossification. All patients were assessed for eight characteristics: age of onset of HO, presence and location of HO, depth of HO, type of HO, progression of HO, features of AHO, PTH resistance, and GNAS mutation analysis. We found, based on clinical criteria, that POH and progressive HO syndromes are at the severe end of a phenotypic spectrum of GNAS-inactivating conditions associated with extra-skeletal ossification. While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of HO (e.g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c).
Topics: Adolescent; Adult; Age of Onset; Bone Neoplasms; Child; Child, Preschool; Chromogranins; Female; Fibrous Dysplasia, Polyostotic; GTP-Binding Protein alpha Subunits, Gs; Humans; Infant; Male; Middle Aged; Mutation; Ossification, Heterotopic; Osteoma; Pedigree; Phenotype; Pseudohypoparathyroidism; Skin; Skin Neoplasms; Subcutaneous Tissue; Syndrome
PubMed: 18553568
DOI: 10.1002/ajmg.a.32346 -
The Western Journal of Medicine Oct 1999
Topics: Aged; Evidence-Based Medicine; Female; Humans; Ossification, Heterotopic; Skin Diseases
PubMed: 10578679
DOI: No ID Found -
Annals of Dermatology May 2009Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing...
Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing calcification. This illness is associated with Albright hereditary osteodystrophy (AHO), which is characterized by such physical features as a short stature, round face, obesity, brachydactyly and osteoma cutis. Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder that's characterized by resistance to parathyroid hormone, and PHP is present in most AHO patients. An AHO phenotype without hormonal resistance is called pseudopseudohypoparathyroidism (PPHP). Osteoma cutis is less common in patients with PPHP than in patients with PHP. We present here a case of osteoma cutis as the cardinal manifestation of AHO associated with PPHP. Osteoma cutis is an important sign of AHO and its significance should not be overlooked, even if the patient has normal values on the serum biochemical tests.
PubMed: 20523775
DOI: 10.5021/ad.2009.21.2.154 -
Journal of Bone and Mineral Research :... Nov 2000We evaluated a 7-year-old girl with severe platelike osteoma cutis (POC), a variant of progressive osseous heteroplasia (POH). The child had congenital heterotopic...
We evaluated a 7-year-old girl with severe platelike osteoma cutis (POC), a variant of progressive osseous heteroplasia (POH). The child had congenital heterotopic ossification of dermis and subcutaneous fat that progressed to involve deep skeletal muscles of the face, scalp, and eyes. Although involvement of skeletal muscle is a prominent feature of POH, heterotopic ossification has not been observed in the head, face, or extraocular muscles. The cutaneous ossification in this patient was suggestive of Albright hereditary osteodystrophy (AHO); however, none of the other characteristic features of AHO were expressed. Inactivating mutations of the GNAS1 gene, which encodes the alpha-subunit of the stimulatory G protein of adenylyl cyclase, is the cause of AHO. Mutational analysis of GNAS1 using genomic DNA of peripheral blood and of lesional and nonlesional tissue from our patient revealed a heterozygous 4-base pair (bp) deletion in exon 7, identical to mutations that have been found in some AHO patients. This 4-bp deletion in GNAS1 predicts a protein reading frameshift leading to 13 incorrect amino acids followed by a premature stop codon. To investigate pathways of osteogenesis by which GNAS1 may mediate its effects, we examined the expression of the obligate osteogenic transcription factor Cbfa1/RUNX2 in lesional and uninvolved dermal fibroblasts from our patient and discovered expression of bone-specific Cbfa1 messenger RNA (mRNA) in both cell types. These findings document severe heterotopic ossification in the absence of AHO features caused by an inactivating GNAS1 mutation and establish the GNAS1 gene as the leading candidate gene for POH.
Topics: Amino Acid Sequence; Base Sequence; Bone and Bones; Cell Line; Child; Core Binding Factor Alpha 1 Subunit; Exons; Female; Fibroblasts; Fibrous Dysplasia, Polyostotic; Forehead; GTP-Binding Protein alpha Subunits, Gs; Gene Expression Regulation; Humans; Molecular Sequence Data; Mutation; Neoplasm Proteins; Organ Specificity; Ossification, Heterotopic; RNA, Messenger; Skin; Transcription Factors; Transcription, Genetic
PubMed: 11092389
DOI: 10.1359/jbmr.2000.15.11.2063