Treatment of Longitudinal Epiphyseal Bracket by Excision and Polymethylmethacrylate Insertion at the Preossified Disease Stage.

Longitudinal epiphyseal bracket is a rare ossification anomaly involving the tubular bones of the hand or foot that have a proximal epiphysis, which becomes deformed as a result of the bracket. Untreated, the deformity becomes worse with age, because longitudinal growth cannot occur. The present report discusses the use of polymethylmethacrylate at the preossified disease stage in 2 patients with first metatarsal involvement. A medical record and radiographic review was performed for 2 children (3 feet), aged 1 year and 2 years and 5 months, who were treated with insertion of polymethylmethacrylate after excision of the aberrant epiphyseal bracket. Two different radiographic parameters (i.e., the intraosseous angulation and the metadiaphyseal length index) were used to measure the effect of treatment on the subsequent longitudinal growth of the metatarsals. An excellent clinical result after a long follow-up period was observed in 2 feet, and a good result was documented in 1 foot, which developed hallux valgus angulation. The use of polymethylmethacrylate as an interposition material after excision of the aberrant metatarsal epiphyseal bracket appeared to be an effective method of treatment during the preossified first stage of the disease, despite the general recommendation to use a cement spacer during the third ossified stage. Normal longitudinal growth of the metatarsals was noted without complications or risk of deformity recurrence.

Congenital plate-like osteoma cutis in an infant.

Plate-like osteoma cutis is widely thought to be present at birth, but it has never been illustrated in early infancy until now. We report on an infant that presented with congenital plate-like osteoma cutis, showing the earliest clinical aspect of the lesion and its initial morphologic changes.

Congenital osteoma cutis of the lateral canthus.

Osteoma cutis is a rare condition involving the formation of bone in skin or subcutaneous tissue. This may be a primary event or, more often, secondary to an inflammatory, traumatic, or neoplastic process. There is little evidence in the literature of this condition involving the eye or ocular adnexal structures. The authors report two remarkably similar cases involving children with congenital isolated osteoma cutis involving the left lateral canthus.

Chronic ulcers, calcification and calcified fibrous tumours: phenotypic manifestations of a congenital disorder of heterotopic ossification.

Calcification is a rarely reported cause for chronic, cutaneous ulceration. Although dystrophic calcification occurs in chronic ulcers, idiopathic calcification and ossification leading to recurrent ulcerations is seldom reported. This report illustrates a challenging case with various non healing wounds, calcification/ossification and calcified fibrous tumours. A 56-year-old woman presented with chronic, painful wounds and calcified deposits in her feet, hands and abdomen, some dating back to childhood. The surgeries she had had for various unrelated conditions healed with hard, calcified deposits, which later ulcerated. Skeletal radiological imaging revealed multiple soft-tissue deposits, with calcification and areas of ossification, along with gross distortion of the bony architecture of her feet. All biochemical investigations were normal apart from raised serum alkaline phosphatase. The management has encompassed a combination of conservative and surgical measures (culminating in a left below-knee amputation) with varying degrees of success. Having ruled out other causes of subcutaneous calcification, three congenital disorders of heterotopic ossification fit this patient's presentation: Albright hereditary osteodystrophy (AHO), fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH). Although AHO and FOP are possibilities, POH is most likely. In addition to describing the diverse phenotypic manifestations of this disorder, this report discusses the diagnostic dilemmas, difficulties in optimising the management plan and issues relating to health-related quality of life in this patient.

Foramen esternal vs orificio por proyectil de arma de fuego / Sternal foramen vs orifice of a gunshot wound

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GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis.

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.

Pouter pigeon breast.

Pouter pigeon breast is a rare congenital deformity of the chest characterized by a protrusion of the manubriosternal junction and premature sternal ossification. The adjacent costal cartilages, usually from the second to fifth, also protrude. One third of the patients with pouter pigeon breast presented with concomitant depression of the lower third of the sternum. Several cardiovascular abnormalities have been associated with premature sternal ossification, with ventricular septal defect being the most common. All patients with pouter pigeon breast should undergo echocardiography in search of occult cardiac lesions. The measurement of the angle of Louis on lateral chest radiograms allows the objective assessment of the deformity and appreciation of the sternal fusion. Surgical correction includes the wide wedge transverse sternotomy at the angle of Louis and subperichondrial resection of the adjacent costal cartilages. When the deformity is part of a syndrome or in cases of severe depression of the lower sternum, we recommend the technique using Marlex mesh support as described by Robicsek. Preferable age for repair is 5 to 7 years old. Long-term outcomes are encouraging.

An accessory ossification centre in the calcaneus with talonavicular and second metatarsocuneiform coalitions.

We present the case of an 11-year-old girl with an accessory ossification centre of the calcaneus with talonavicular and second metatarsocuneiform coalitions, and bilateral os tibiale externum.

Congenital plate-like osteoma cutis of the forehead: an atypical presentation form.

Cutaneous ossifications or osteoma cutis can be found in many syndromes. Primary osteoma cutis, present since birth or the first months of life, in the absence of metabolic disorders or trauma, is found in congenital plate-like osteoma cutis and progressive osseous heteroplasia, coexisting in the latter with deep connective tissue ossifications. This report documents the case of a 7-year-old female with a plate-like cutaneous ossification of the forehead causing aesthetic deformities. Other dermal ossifications in the inguinal and preauricular region, as well as the left hand and a small focus in the extraocular muscles of the left orbit, were also present. These lesions did not show progression, and most of them were present since birth. The lesion of forehead was treated surgically. The lack of progression and the fact that the orbital lesion was solitary still fits the criteria for the diagnosis of plate-like osteoma cutis. Plate-like osteoma cutis and progressive osseous heteroplasia may represent varieties of the same disorder.

Congenital ossification of the stapedius tendon: diagnosis with CT.

PURPOSE: To describe the features of congenital ossification of the stapedius tendon at thin-section computed tomography (CT). MATERIALS AND METHODS: Thin-section CT scans, clinical records, and surgical findings were retrospectively evaluated in nine ears of five patients with surgically proved congenital ossification of the stapedius tendon. Thin-section CT scans of 50 control ears were also reviewed. RESULTS: On thin-section CT scans, a linear area of soft-tissue attenuation was demonstrated between the monopod stapes and the pyramidal eminence (nine ears), as well as thickening of the stapes footplate (two ears). In the 50 control ears, the normal stapes tendon was not clearly seen on thin-section CT scans. CONCLUSION: At CT, a linear area of soft-tissue attenuation that extends from the pyramidal eminence to the monopod stapes is suggestive of congenital ossification of the stapedius tendon or a bony bar adjacent to it.

Progressive osseous heteroplasia: a case report.

We report the case of a young female who, from infancy, suffered extensive, progressive, heterotopic ossification of her left lower limb. Heterotopic ossification, which was largely but not exclusively intramembranous in type, was most marked in subcutaneous fat but was also noted in muscle and deep connective tissue. The spectrum of changes noted suggests that this congenital disorder of soft tissues is similar to that recently described as progressive osseous heteroplasia.

[Bony bridges of the lumbar transverse processes]. / Knöcherne Spangen der Lendenwirbelquerfortsätze.

A traumatic osseous bridge between lumbar transverse processes is a bone formation occurring after severe or even mild trauma of the back. However, only few of the patients with a contusion of the back or a fracture of a lumbar transverse process develop such an osseous bridge. The localisation of the haematoma plays an important role in this process, but myositis ossificans is a mandatory condition. Anamnesis will not lead to traumatic aetiology in all cases, because sometimes the patient is not aware of the fact that a transverse process has been fractured. The diagnosis finally depends on the recognition of the different shapes. The traumatic osseous bridge is characterised by the kind of trauma that causes the fracture of the transverse process. The shapes can be classified as "h", "H", "K", or "Z". Among 72 patients with inter-transverse osseous bridges, only 11 patients have congenital bridges. The congenital osseous bridge shows typical features that can be explained by means of embryogenic and functional dynamic considerations. These symptoms are the O-shape, concavity of the lumbar spine of a pathological nature and the absence of degenerative changes in the corresponding intervertebral space.

The pathogenesis of congenital vertebral malformations. A study based on observations made in 11 human embryos and fetuses.

The pathogenesis of congenital vertebral malformations was investigated histologically in 266 human embryos and fetuses. Malformations were found in 11 specimens, and were grouped according to a detailed classification. All the malformations were observed as abnormalities of the cartilaginous anlage of the vertebral body, and permitted some conclusions as to their pathogenesis. A hemivertebra or other defect of formation of the vertebral body is considered to be caused by abnormal differential growth of the loose-celled area. Defects of segmentation are due to complete chondrification of the dense-celled area or to an absence of the dense-celled area. The notochord does not seem to be responsible for malformations. Compensatory growth of other vertebral bodies resulting from a partial defect or a peculiar shape of the body is already present in this very early stage of development. Some specimens show a relationship between the abnormal distribution of the intersegmental arteries and the abnormality of the vertebral segments. Considering the importance of the intersegmental artery in the formation of the definitive vertebral body anlage, as mentioned in a previous paper, it may be concluded that congenital vertebral malformations are likely to occur during the stage of resegmentation and to be related to the abnormal distribution of the intersegmental arteries.