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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 -
BMC Ophthalmology Mar 2024An ocular osseous choristoma is a growth of mature, compact bone in the ocular or periocular soft tissue, and it is the rarest form of ocular choristoma, accounting for...
BACKGROUND
An ocular osseous choristoma is a growth of mature, compact bone in the ocular or periocular soft tissue, and it is the rarest form of ocular choristoma, accounting for only 1.7% of all epibulbar choristomas.
CASE PRESENTATION
Herein we present the case of a 20-month-old girl who was referred to the oculoplasty clinic with a progressively growing mass in the left lateral canthus. It had been present since birth without ocular involvement. Upon examination the mass was firm with a smooth surface, measured 9 × 6 × 3 mm, and exhibited no episcleral attachment or ocular involvement. An excisional biopsy was performed, and the histopathological findings were consistent with osseous choristoma of the left lateral canthus.
CONCLUSIONS
This report highlights the importance of considering osseous choristoma in the differential diagnosis of eyelid lesions, particularly those that have been present since birth. It also emphasizes the need for further studies investigating associations between osseous choristomas and ocular canthi.
Topics: Female; Humans; Infant; Choristoma; Lacrimal Apparatus; Eye Diseases; Eyelids; Bone and Bones
PubMed: 38549111
DOI: 10.1186/s12886-024-03403-y -
Annals of Dermatology Nov 2023
PubMed: 38061755
DOI: 10.5021/ad.22.120 -
Skin Research and Technology : Official... Nov 2023
Topics: Humans; Skin Diseases, Genetic; Ossification, Heterotopic; Bone Diseases, Metabolic; Skin Neoplasms
PubMed: 38009037
DOI: 10.1111/srt.13510 -
Cureus Sep 2023Background In this study, we aimed to determine the prevalence and radiographic features of incidental head and neck soft tissue calcifications (STCs) on panoramic...
Background In this study, we aimed to determine the prevalence and radiographic features of incidental head and neck soft tissue calcifications (STCs) on panoramic imagesand assess their clinical significance. Methodology Following well-established training and calibration procedures, 9,553 digital panoramic radiographs (DPRs) taken between January 1, 2021, and January 31, 22, were retrospectively evaluated. Only obvious calcifications and clear differential diagnoses were considered. The presence, type, side (i.e., unilateral or bilateral), number (single or multiple), and the presence of different calcifications in the same individual were recorded. STCs were recorded according to age and gender. Data were analyzed using the chi-square test and Fisher's exact test using SPSS version 18.0 (IBM Corp., Armonk, NY, USA). Results Overall, 35.8% of the DPRs studied showed the presence of STCs, including ossified stylohyoid complex (OSHC) (10.3%), thyroid cartilage (9.8%), tonsillolith (9.2%), atherosclerotic plaques (5.8%), calcified triticeous cartilage (CTC) (5.1%), sialolith (1.9%), as well as intra-articular (1.3%) and other calcifications (0.1-0.8%), i.e., calcified lymph node, antrolith, rhinolith, phlebolith, and osteoma cutis. STCs were found to be more prevalent in middle-aged patients and in females. A significant relationship was identified between the presence of carotid artery calcification and calcified superior horn of thyroid cartilage (CSHTC), as well as between the presence of CSHTC and CTC. Calcifications were detected either bilaterally (n = 2,003) or unilaterally (n = 2,388); however, OSHC mostly showed bilateral calcifications (8.5%). Conclusions Panoramic radiographs of dental patients reveal the frequent occurrence of STCs in the head and neck region with differing radiographic features. Certain calcifications show gender and age differences. Accurate detection of STCs may guide the identification of potential underlying diseases and help initiate referral to the relevant multidisciplinary teams.
PubMed: 37766776
DOI: 10.7759/cureus.46025 -
Indian Dermatology Online Journal 2023
PubMed: 37266104
DOI: 10.4103/idoj.idoj_321_22 -
BMC Musculoskeletal Disorders Mar 2023Progressive osseous heteroplasia (POH) is a rare genetic condition that causes progressive ossification. This usually results from an inactivating mutation of the...
BACKGROUND
Progressive osseous heteroplasia (POH) is a rare genetic condition that causes progressive ossification. This usually results from an inactivating mutation of the paternal GNAS gene. Herein, we report a case of POH caused by a novel mutation in exon 2 of the GNAS gene.
CASE PRESENTATION
A 5-year-old Chinese boy was referred to our hospital for a growing mass in his right foot. Although laboratory findings were normal, radiographic imaging revealed severe ossification in his right foot and smaller areas of intramuscular ossification in his arms and legs. A de novo mutation (c.175C > T, p.Q59X) in exon 2 of the GNAS gene was identified, prompting a diagnosis of POH. We conducted a systematic literature review to better understand this rare disease.
CONCLUSION
We have discovered that a de novo nonsense mutation in exon 2 of GNAS can lead to POH. Our literature review revealed that ankylosis of the extremities is the primary clinical outcome in patients with POH. Unlike other conditions such as fibrodysplasia ossificans progressiva (FOP), patients with POH do not experience respiratory failure. However, much remains to be learned about the relationship between the type of GNAS gene mutation and the resulting POH symptoms. Further research is needed to understand this complex and rare disease. This case adds to our current understanding of POH and will contribute to future studies and treatments.
Topics: Male; Humans; Child, Preschool; GTP-Binding Protein alpha Subunits, Gs; Rare Diseases; Ossification, Heterotopic; Myositis Ossificans; Exons; Mutation; Chromogranins
PubMed: 37003989
DOI: 10.1186/s12891-023-06371-4 -
JAAD Case Reports Mar 2023
PubMed: 36873053
DOI: 10.1016/j.jdcr.2023.01.010 -
Cureus Sep 2022The most common tender cutaneous neoplasm is a dermatofibroma. The characteristics of three women (35 to 42 years old) with painful dermatofibromas are described. One...
The most common tender cutaneous neoplasm is a dermatofibroma. The characteristics of three women (35 to 42 years old) with painful dermatofibromas are described. One woman was receiving immunosuppressive therapy for the past decade following a liver transplant; the other women were healthy. The dermatofibroma was located on the buttock, shoulder, and arm, respectively; tumor-related pain had been present for several months to at least a year. The dermal nodules ranged in diameter from 5 millimeters to 12 millimeters and were either flesh-colored to slightly red or brown or tan; one tumor was surrounded by a hyperpigmented patch. Microscopic examination showed the following dermatofibroma variants: classic (fibrocollagenous) in two women and histiocytic in one woman. All the women experienced resolution, without recurrence, of pain following the punch biopsy that only removed the majority (but not all) of the dermatofibroma. Tender cutaneous neoplasms include not only dermatofibromas and other fibrous lesions, but also adipose, bone, calcium, cartilage, eccrine, infiltrative, lymphoproliferative, muscle, neural, and vascular tumors. Acronyms and acrostics are mnemonic devices that have been used by clinicians to aid in recalling the diagnoses associated with painful skin tumors. When there were only 11 or less number of pain-related cutaneous conditions, shorter acronyms associated with either a woman's name, a country or an egg were used. A unique acrostic inspired by Charlotte's Web, a children's book by E. B. White, was created when the differential diagnosis of tender cutaneous neoplasms expanded to 25 tumors. The sequential discovery of additional tender skin lesions resulted in two subsequent minor revisions to the original, hog-related, mnemonic. Herein, a new acrostic -- that is not only able to incorporate the inspiration from Charlotte's Web, but also includes cutaneous lymphoma and a final category of "everything else" in order to maintain the future integrity of mnemonic -- for the painful tumors of the skin is proposed: HOG FLED PEN AND GETS CALM LIFE BACK (hidradenoma, osteoma cutis, glomus tumor, fibromyxoma [superficial acral], leiomyosarcoma [cutaneous], eccrine angiomatous hamartoma, Dercum's disease, piezogenic pedal papule, eccrine spiradenoma, neurilemmoma, angiolipoma, neuroma, dermatofibroma, granular cell tumor, endometriosis [cutaneous], thrombus [cutaneous organizing], scar, calcinosis cutis, angioendotheliomatosis [reactive], leiomyoma, metastases [cutaneous], lymphoma [cutaneous], intravenous lobular capillary hemangioma, foreign body [and foreign body reaction], everything else, blue rubber bled nevus, angioma [tufted], chondrodermatitis nodularis helicis, and keloid).
PubMed: 36321023
DOI: 10.7759/cureus.29713