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Skeletal Radiology Jul 2024Aneurysmal bone cyst (ABC) is a rare and usually painful condition, representing about 1% of all bone tumors. A geographical lytic, expansile, and septated radiological...
Aneurysmal bone cyst (ABC) is a rare and usually painful condition, representing about 1% of all bone tumors. A geographical lytic, expansile, and septated radiological pattern, with fluid-fluid levels on MRI, is classically displayed. ABC can be a primary bone lesion (70% of patients) or can arise in an underlying condition and is subsequently named "ABC-like changes" (30%). ABC-like changes are more frequently encountered in skeletal segments affected by chondroblastoma, fibrous dysplasia, giant cell tumor, osteoblastoma, non-ossifying fibroma, and osteosarcoma. In this article, we describe the first case of ABC-like changes developed in association with an ultra-rare sclerosing bone disease: melorheostosis. Melorheostosis is characterized by recognizable patterns on radiological studies with a pathological increased bone density and a cortical thickening within the periosteal or endosteal space, usually with a "dripping candle wax" appearance. More rarely, other different radiological patterns can be observed, such as "osteopatia striata-like," "osteoma-like," "myositis ossificans-like," and mixed patterns. Pain and limb hypotrophy are the most common clinical manifestations. We report the case of a Caucasian male with a clinic-radiological diagnosis of melorheostosis (with epiphyseal osteopoikilosis) since the age of twelve. At the age of nineteen, he suffered from increased pain in the proximal right thigh, and the radiological control revealed an expansive septated lesion at the right proximal femoral bone. The diagnosis of ABC-like changes developed in melorheostosis was obtained after CT-guided bone biopsy and confirmed by open-incisional biopsy.
Topics: Humans; Melorheostosis; Male; Bone Cysts, Aneurysmal; Osteopoikilosis; Magnetic Resonance Imaging; Diagnosis, Differential; Epiphyses; Adult; Tomography, X-Ray Computed
PubMed: 38015230
DOI: 10.1007/s00256-023-04529-8 -
Bone Aug 2017Melorheostosis (MEL) is the rare sporadic dysostosis characterized by monostotic or polyostotic osteosclerosis and hyperostosis often distributed in a sclerotomal...
Melorheostosis (MEL) is the rare sporadic dysostosis characterized by monostotic or polyostotic osteosclerosis and hyperostosis often distributed in a sclerotomal pattern. The prevailing hypothesis for MEL invokes postzygotic mosaicism. Sometimes scleroderma-like skin changes, considered a representation of the pathogenetic process of MEL, overlie the bony changes, and sometimes MEL becomes malignant. Osteopoikilosis (OPK) is the autosomal dominant skeletal dysplasia that features symmetrically distributed punctate osteosclerosis due to heterozygous loss-of-function mutation within LEMD3. Rarely, radiographic findings of MEL occur in OPK. However, germline mutation of LEMD3 does not explain sporadic MEL. To explore if mosaicism underlies MEL, we studied a boy with polyostotic MEL and characteristic overlying scleroderma-like skin, a few bony lesions consistent with OPK, and a large epidermal nevus known to usually harbor a HRAS, FGFR3, or PIK3CA gene mutation. Exome sequencing was performed to ~100× average read depth for his two dermatoses, two areas of normal skin, and peripheral blood leukocytes. As expected for non-malignant tissues, the patient's mutation burden in his normal skin and leukocytes was low. He, his mother, and his maternal grandfather carried a heterozygous, germline, in-frame, 24-base-pair deletion in LEMD3. Radiographs of the patient and his mother revealed bony foci consistent with OPK, but she showed no MEL. For the patient, somatic variant analysis, using four algorithms to compare all 20 possible pairwise combinations of his five DNA samples, identified only one high-confidence mutation, heterozygous KRAS Q61H (NM_033360.3:c.183A>C, NP_203524.1:p.Gln61His), in both his dermatoses but absent in his normal skin and blood. Thus, sparing our patient biopsy of his MEL bone, we identified a heterozygous somatic KRAS mutation in his scleroderma-like dermatosis considered a surrogate for MEL. This implicates postzygotic mosaicism of mutated KRAS, perhaps facilitated by germline LEMD3 haploinsufficiency, causing his MEL.
Topics: Adolescent; Exome; Genetic Predisposition to Disease; Humans; Male; Melorheostosis; Mosaicism; Mutation; Nevus; Osteopoikilosis; Osteosclerosis; Proto-Oncogene Proteins p21(ras)
PubMed: 28434888
DOI: 10.1016/j.bone.2017.04.010 -
International Journal of Paleopathology Sep 2021To improve the differential diagnosis of osteopoikilosis in past populations using a clinical case as an example of this rare condition.
OBJECTIVE
To improve the differential diagnosis of osteopoikilosis in past populations using a clinical case as an example of this rare condition.
MATERIALS
A patient referred to our Genetic Service with suspected Buschke Ollendorff Syndrome after finding a connective nevus.
METHODS
Radiological images from different body regions were accompanied by a genetic study using next-generation sequencing.
RESULTS
Small circular-to-ellipsoid sclerotic lesions were found in the epiphysis and metaphysis of long bones, as well as in the pelvis. These lesions were bilaterally distributed and with well-defined margins, compatible with the characteristics of Buschke Ollendorff Syndrome, bone manifestation osteopoikilosis. A heterozygous mutation on LEMD3 (NM_001167614:c.1918 + 1G > C) was identified by next-generation sequencing. Based on this confirmed case, we have discussed the most probable causes of similar bone lesions found in the archaeological record.
CONCLUSION
It has been demonstrated how a current case of a rare disease can provide useful tools to improve the differential diagnosis of this disease in ancient skeletons.
SIGNIFICANCE
This work underlines the great need for multidisciplinary platforms that integrates clinical research into paleopathology in order to successfully address the study of rare diseases from the past.
LIMITATIONS
Since OPK is only detected by X-rays, suspected cases of this bone lesion will only be identified when radiographs are taken for other purposes.
SUGGESTIONS FOR FURTHER RESEARCH
Retrospective and large-scale studies of radiographs from other research in past populations.
Topics: Humans; Osteopoikilosis; Rare Diseases; Retrospective Studies; Skin Diseases, Genetic
PubMed: 34098227
DOI: 10.1016/j.ijpp.2021.05.010 -
Pediatric Dermatology Mar 2020Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant genodermatosis caused by heterozygous mutations in LEMD3 and characterized by connective tissue nevi and...
Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant genodermatosis caused by heterozygous mutations in LEMD3 and characterized by connective tissue nevi and sclerotic bone lesions known as osteopoikilosis. We report a family with three individuals affected by BOS, two of whom manifested clinical and histopathological peculiarities, presenting with a depressed indurated plaque as the main cutaneous manifestation instead of the classic connective tissue nevi. Notable elastorrhexis was present in both biopsies.
Topics: Adult; Child; Female; Humans; Male; Osteopoikilosis; Skin Diseases; Skin Diseases, Genetic
PubMed: 31943321
DOI: 10.1111/pde.14096 -
Cutis Aug 2014Buschke-Ollendorff syndrome (BOS) is an autosomal-dominant disease characterized by the association of connective tissue nevi and osteopoikilosis. It is diagnosed by...
Buschke-Ollendorff syndrome (BOS) is an autosomal-dominant disease characterized by the association of connective tissue nevi and osteopoikilosis. It is diagnosed by mutations of proteins involved in bone and connective tissue morphogenesis. We report 2 cases of BOS with different cutaneous clinical patterns. These cases emphasize the importance of heightened suspicion of BOS in selected cases. Identifying BOS can be reassuring for the patient, sparing futile and expensive investigations.
Topics: Adolescent; Biopsy; Child, Preschool; Diagnosis, Differential; Elastic Tissue; Female; Humans; Incidental Findings; Male; Osteopoikilosis; Pedigree; Prognosis; Radiography; Siblings; Skin Diseases, Genetic
PubMed: 25184645
DOI: No ID Found -
Cureus Sep 2018Osteopoikilosis is a rare condition that is characterized by multiple small non-aggressive appearing sclerotic foci in a periarticular distribution. Typically, it does...
Osteopoikilosis is a rare condition that is characterized by multiple small non-aggressive appearing sclerotic foci in a periarticular distribution. Typically, it does not cause any symptoms and is diagnosed incidentally on imaging studies done for other reasons. We present a case of osteopoikilosis in a 37-year-old male, which was diagnosed incidentally on radiographs.
PubMed: 30430046
DOI: 10.7759/cureus.3253 -
Molecular Imaging and Radionuclide... Feb 2018Osteopoikilosis is an inherited condition with autosomal dominant trait resulting in sclerotic foci throughout the skeleton. It has been suggested that loss-of-function...
Osteopoikilosis is an inherited condition with autosomal dominant trait resulting in sclerotic foci throughout the skeleton. It has been suggested that loss-of-function mutations of LEMD3 gene located on 12q14.3 result in osetopoikilosis. A bp heterozygote deletion was detected in our patient at the cytosine nucleotide at position 1105 with molecular genetic analysis. Although this mutation has not been previously described, it was considered to be the most likely cause of the disease in our patient due to frame shift and premature stop codon formation. As in our case, three phase bone scintigraphy and whole body imaging did not reflect the true extent of lesion sites and lesion activity. SPECT/CT images could reflect lesion location and activity more accurately, and could be a good alternative for differential diagnosis of unexplained bone pain and sclerotic lesions in one examination.
PubMed: 29393055
DOI: 10.4274/mirt.25743 -
Anais Brasileiros de Dermatologia 2016Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated...
Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is critical for a diagnostic conclusion. This report describes the case of a 7-year-old male patient with lesions diagnosed as elastoma, with absence of bone changes in the radiological imaging. This study aims to report the clinical presentation and histological examination of such unusual disease.
Topics: Biopsy; Child; Dermis; Diagnosis, Differential; Elastic Tissue; Humans; Male; Nevus; Osteopoikilosis; Rare Diseases; Skin Diseases, Genetic
PubMed: 28300889
DOI: 10.1590/abd1806-4841.20164541 -
Acta Radiologica Open Dec 2019Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome (BSCL), is a part of lipodystrophic syndromes that constitute a heterogeneous group of genetic...
Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome (BSCL), is a part of lipodystrophic syndromes that constitute a heterogeneous group of genetic or acquired generalized or partial body fat loss disorders. It is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. CGL is classified as type 1-4, depending on the gene involved, and bone lytic lesion is found frequently in type 1 especially in long bones, but reported to be rare in type 2. Here we report an active lifestyle 25-year-old woman with type 2 CGL showing multiple bone lytic and pseudo-osteopoikilosis lesions in hands and feet. Radiograph bone survey showed no apparent abnormality in pelvic bone or axial skeletons. Bone marrow was completely absent and extra-skeletal general fat loss was also evident in whole-body magnetic resonance imaging sparing the orbital, axial, sole, and palmar regions. Radiographic bone survey is important even for type 2 CGL to find the change of bones to provide direction of preventing excessive overload or activity.
PubMed: 31853371
DOI: 10.1177/2058460119892407 -
JAAD Case Reports Mar 2015
PubMed: 27051689
DOI: 10.1016/j.jdcr.2015.01.004