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PubMed1997

[Subungueal exostosis of fingers in hereditary multiple exostosis. 3 cases].

INTRODUCTION: The multiple exostosis syndrome is a rare disease transmitted by autosomal dominant inheritance. Bone growth projecting outward from the long bones is observed in multiple localizations during growth. Prognosis of this benign disease is worsened by the possibility of chondrosarcoma. We report three cases of subungueal exostoses observed in children revealing hereditary exostosis. CASE REPORTS: Clinical examination evidenced progressive deformation of several fingers. In all three patients. There was subungueal tumefaction raising a fissured nail with longitudinal crests. In two cases there were also skeletal deformations. Radiograms showed multiple exostoses of the long bones in all three cases and in one a tumefaction of the scapula in addition to visualizing the subungueal exostoses. There was a family history of such manifestations in all cases. DISCUSSION: Subungueal exostosis is frequent in young adults, usually located in the large toe. These three observations were particularly interesting due to the subungueal localization during the first decade of life. Such localization are rare and usually concern several fingers.

Adolescent↗
PubMed1982

Osteomas and exostoses of the external auditory canal - medical and surgical management.

Osteomas and exostoses have distinct clinical and histopathologic features. Osteomas are usually solitary, pedunculated, bony growths attached to the tympanosquamous or tympanomastoid suture line, characterized histologically by an internal structure of abundant discrete fibrovascular channels surrounded by irregularly oriented lamellated bone. Exostoses are usually multiple, bilaterally symmetrical, broad based elevations of bone involving the tympanic bone. They are histologically characterized by parallel, concentric layers of subperiosteal bone. The infrequent symptoms resulting from these lesions can usually be managed medically; however, on occasion surgical removal is indicated. While surgical removal of the osteoma is usually possible via the external auditory meatus, we recommend that an exostosis be removed utilizing a postauricular approach.

Adult↗
PubMed2001

Uncommon clinical course of multiple osteochondromatosis in a patient with a long-term history of Cushing's disease.

Cushing's disease (CD), the chronic endogenous hypercortisolism derived from an ACTH-secreting pituitary adenoma, and multiple osteochondromatosis (MO), a congenital mesoderm dyschondroplasia, represent two distinct rare neoplastic diseases. Clinical appearance of MO usually occurs during the first-second decade of life. In fact, the growth of osteochondromas parallels the patient's growth, then becoming quiescent after the closure of the epiphyses and the achievement of final stature. Here we describe an uncommon case of a patient with a long-term history of childhood-onset CD, who surprisingly developed MO during the third decade of life, after the remission of CD. Indeed, a female patient had been followed for CD from the age of 12 to the age of 24 years, when CD definitively remitted. At the age of 26 the patient complained progressively worsening backache and pain at level of hips and feet. Standard radiography of skeleton showed multiple bone dysmorphisms at level of the four limbs, spine and pelvis consistent with multiple osteochondromas and exostoses. A diagnosis of MO was performed. Total body bone scintigraphy with 99mTc-MDP revealed an increased uptake of the radioligand, suggesting an increased metabolic turnover in correspondence of the majority of the osteochondromas. However, the negativity of the majority of the lesions at 99mTc-DMSA scintigraphy and the histological diagnosis of benign osteochondroma of the only positive lesion at 99mTc-DMSA evidenced that the high metabolic activity of the osteochondromas was not due to malignant transformation. However, the activity of the lesions was highly surprising considering that they usually become quiescent after the achievement of the final stature. In last analysis, the uncommon characteristics of MO and, particularly, its occurrence after stable remission of hypercortisolism, suggests a possible role of glucocorticoids in influencing the clinical course of the skeletal disease. The inhibitory effect of hypercortisolism on bone growth and maturation could explain the block in the proliferation of skeletal lesions during the developmental age, where CD was in the active phase, and the opposite effect of stimulation of the ostochondromas growth during stable normalization of cortisol secretion, after CD remission.

Adrenocorticotropic Hormone↗
PubMed1996

Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.

To delineate further the clinical spectrum of Menkes disease, an X-linked recessive disorder of copper transport, we studied 4 related males, ranging in age from 4-38 years, with a unique phenotype that combines manifestations of classical and mild Menkes disease and occipital horn syndrome (OHS). The propositus, and 18-year-old man, was evaluated following an intracerebral hemorrhage at age 15 years and was noted to have marked hypotonia, motor delay with mental retardation, bladder diverticula, failure to thrive, and diarrhea from infancy; seizures from age 3 years; and abnormal hair (pili torti) and face, cutis laxa, and multiple joint dislocations. Radiographic abnormalities included occipital exostoses, tortuous cerebral blood vessels with multiple branch occlusions, and hammer-shaped clavicles. Biochemical studies demonstrated reduced copper and ceruloplasmin levels in serum, and abnormal plasma catecholamine ratios. We reported previously the molecular defect in this family, a splice-site mutation that predicts formation of approximately 20% of the normal Menkes gene product [Kaler et al., 1994: Nat Genet 18:195-202]. Here, we detail the clinical course and physical features and radiographic findings in these 4 individuals, and compare their phenotype with classical and mild Menkes and OHS. Unusual Menkes disease variants such as this may escape recognition due to anomalies that appear inconsistent with the diagnosis, particularly prolonged survival and later onset of seizures. Males with mental retardation and connective tissue abnormalities should be evaluated for biochemical evidence of defective copper transport.

Adolescent↗
PubMed1991

Incidence of brachydactyly and hand exostosis in hereditary multiple exostosis.

Forty-two radiographs and charts of twenty-two patients with a diagnosis of hereditary multiple exostosis and hand involvement were examined to determine the incidence of hand exostoses and association with brachydactyly. An average of 11.6 exostoses were found per hand. The proximal phalanges and metacarpals are affected in the majority of patients and the thumb and distal phalanges are rarely involved. Most exostoses were located in the juxtaepiphyseal region (61.8%) and typically involved less than 50% of the bone diameter. Brachydactyly can be seen in patients with hereditary multiple exostosis when no exostoses is present; however, the presence of an exostosis results in even more shortening. The location and size of the exostosis had no relationship to increased bone shortening. Operative treatment was required in four of twenty-two patients for debulking and impingement.

Child↗
PubMed2005

Multiple cartilaginous exostosis in a Golden Retriever cross-bred puppy. Clinical, radiographic and backscattered scanning microscopy findings.

Multiple cartilaginous exostosis was diagnosed in a six-month-old Golden Retriever cross-bred male with a history of forelimb lameness and isolated, but very painful, acute episodes. Physical examination revealed a right forelimb lameness with a firm, painful palpable mass on the cranial aspect of the forearm. The radiological examination showed the presence of bony masses at the humerus and radius as well as several masses in the ribs and spinous processes of the thoracic vertebrae. Based on the history and radiographic findings, multiple cartilaginous exostosis was diagnosed. Treatment with non-steroidal anti-inflammatory drugs was commenced for two weeks without any effect. Due to the lack of a response to the treatment as well as to the progressive physical deterioration of the animal, the owners requested euthanasia of the dog. Histology of the different exostoses demonstrated the presence of a hyaline cartilage cup surrounding a central area, formed mainly by bone and cartilage trabecullae. Signs of malignancy were not observed. Back-scattered scanning electron microscopy (BEI-SEM) study revealed well ordered and progressively calcified cartilage trabecullae present underneath the non-calcified cartilage cap. At a greater depth, those cartilage trabecullae became osteochondral trabecullae, and the innermost were formed exclusively by woven and lamellar bone. The histological and back-scattered electron scanning microscopy results conclude that it was a well-arranged normal endochondral ossification process that followed a centripetal pattern inside the bony mass, confirming the diagnoses of multiple cartilaginous exostoses.

Animals↗
PubMed1982

Familial T-cell lymphoblastic lymphoma: association with Von Recklinghausen neurofibromatosis and Gardner syndrome.

A family is described in which three of seven siblings developed a T-cell lymphoblastic lymphoma. Tumor cells formed rosettes with sheep erythrocytes, lacked surface Ig, and expressed human T- but not B-lymphocyte antigens. They lacked the enzyme terminal transferase suggesting a lymph node rather than thymic T-cell origin. Autopsy findings supported this conclusion. All three sibs, like their father, had numerous cafe'-au'lait spots indicative of Von Recklinghausen neurofibromatosis. One child had a subcutaneous fibroma, and another had multiple colonic polyps and exostoses characteristic of Gardner syndrome. Both are autosomal dominant conditions known to predispose to malignancies. The genetic factors responsible for these conditions may also predispose to the development of "post-thymic" T-cell lymphoblastic lymphoma.

Child↗
PubMed1987

Proteus syndrome in southern Africa: natural history and clinical manifestations in six individuals.

Six individuals with Proteus syndrome have been investigated; 2 were adults and the others ranged in age from 2 to 11 years. They had a wide spectrum of manifestations and severity together with the hitherto unreported anomalies of penile hypertrophy, macro-orchidism, goiter, and failure of breast development. These findings were associated with normal endocrine function. Bizarre digital overgrowth, hemihypertrophy, thickened palms and soles, exostoses of the skull, and multiple hamartomata were common anomalies. Early overgrowth of limbs and digits occurred in several instances but the ultimate stature of 2 adults was normal. Surgical intervention offers cosmetic and orthopedic benefits, but these must be assessed in the light of potential post-operative complications.

Adult↗
PubMed1984

Type IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic features.

The authors describe 7 male patients from two unrelated families who presented with what appears to be a heretofore undiagnosed X-linked variant of Ehlers-Danlos syndrome. Unlike the eight previously reported types, this variant is manifested by specific skeletal abnormalities, including occipital exostoses, widening and bowing of multiple long bones at tendinous and ligamentous insertion sites, and deformed clavicles. Major clinical complications include genitourinary problems, chronic diarrhea with malabsorption, and/or syncopal episodes. Laboratory tests suggest that this variant may represent the true lysyl-oxidase-deficient form of Ehlers-Danlos syndrome.

Adolescent↗
PubMed1993

Ophthalmologic examination in the diagnosis of Proteus syndrome.

PURPOSE: To describe the clinical features of Proteus syndrome, a rare recently recognized hamartoneoplastic malformation, with emphasis on the ocular findings. METHODS: Complete physical and ocular examination of two new patients with Proteus syndrome. RESULTS: The two reported cases illustrate the wide clinical polymorphism of Proteus syndrome and the overlap of its clinical manifestations with those of other overgrowth syndromes. Both patients had periorbital exostoses and epibulbar tumors. The ocular findings are compared with those in the literature. CONCLUSION: Considering the paucity of information in the ophthalmic literature, this article explores the role of the ophthalmologist in diagnosing this rare entity.

Abnormalities, Multiple↗
PubMed1998

[Intra-thoracic costal sites of osteogenic exostoses in the child].

PURPOSE OF THE STUDY: The authors report 2 cases of internal costal exostosis in children. OBSERVATIONS: Case 1: A 15-year-old boy with hereditary multiple exostosis presented for chest pain. Radiograph and CT scan showed an internal rib exostosis. It was removed by thoracotomy. Eighteen months later, the child was painfree. Case 2: An-11-year old boy presented with fever and a headache. A chest radiograph showed an image of pulmonary opacity interpreted as a pneumonia. The child was admitted for antibiotic therapy. Two months later, X-ray lesion persisted and a CT-scan was obtained. It showed a solitary costal internal exostosis which was removed by thoracotomy. At 12 months follow-up, he was asymptomatic. DISCUSSION: Internal costal exostosis can induce some complications such as hemothorax, diaphragmatic or pericardic wounds. In case of symptomatic exostosis, the authors recommend a surgical removal to avoid severe complications. If the exostosis is asymptomatic, abstention can be recommend. As a matter of fact, hemothorax, for instance, can occur even due to a round and smooth exostosis without any history of trauma.

Adolescent↗
PubMed2003

Discoid medial meniscus.

A discoid medial meniscus is an extremely rare anomaly. We present 4 cases of symptomatic discoid medial meniscus. Furthermore, magnetic resonance imaging (MRI) of the unaffected knee was obtained in 3 cases, and 1 patient had bilateral discoid medial menisci as well as a unilateral discoid lateral meniscus proven by MRI. Another patient had bilateral discoid medial menisci. In one of the other 2 cases, an MRI of the unaffected knee was not obtained. However, in the involved knees of both cases, medial and lateral menisci were discoid. The incidence of bilateral discoid medial menisci is unknown. In the past, the diagnosis of a discoid meniscus was made with an arthrogram or at arthrotomy. Therefore, whether some of the unilateral cases reported in the literature might have been bilateral is unknown. The reported prevalence of bilateral discoid medial menisci will probably increase, because when a discoid medial meniscus is encountered currently, an MRI is used to find knee disorders, including in the contralateral knee. Axial multiplanar gradient-recalled-echo imaging could provide images of the discoid meniscus, depicted in its entirety in one section. This would make the recognition of a discoid meniscus simple.

Abnormalities, Multiple↗
PubMed1980

Meningiomatous changes in the optic canan: a polytomographic study.

Eleven patients who had unilateral insidious compression of the optic nerve but exhibited no detectable abnormality on plain skull radiographs or non-tomographic views of the optic canal were studied. Paracanalicular meningioma was proved surgically in 10. Complex-motion tomography demonstrated characteristic alterations in the bone forming the optic canal in all cases. These changes consisted of canal enlargement, changes in contour, and an atypical radiographic appearance of the cortical bone, seen as (a) diffuse, spongy, non-homogeneous thickening of the canal margins; (b) multiple tiny saw-tooth-like exostoses projecting into the canal lumen; or (c) short, well-circumscribed areas of smooth bone thickening. Other techniques such as angiography and pneumoencephalography were not as helpful in the diagnosis as complex-motion tomography.

Adult↗
PubMedDate not supplied

[Disease picture of dysplasia epiphysealis hemimelica].

Dysplasia epiphysealis hemimelica - an epiphyseal developmental disturbance of the skeleton - is combined with exostose-like, tumor-simulating cartilaginous hypertrophy of bone tissue, mainly located at the epiphyses of the lower extremities and at the tarsal bones. In the case of multiple involvement the unilateral type prevails (hemimele type); within the epiphyses it is mostly the medial part which is undergoing changes. Rare sites are patella, head of the hip bone, shoulder joint, carpalia, more commonly affected are talus as well as other tarsal bones, distal femoral epiphysis and proximal and distal tibial epiphysis. Histologically, dysplasia epiphysealis hemimelica is identical to cartilaginous exostosis. Bone formation is taking place by enchondral ossification (epiphyseal osteochondroma). The ratio between male and female is 3:1. As a rule, this disease becomes manifest in early childhood or adolescence by indolent swellings of the joint region, restricted movement, axis shift, sometimes by differences in the length of the legs. Therapeutic guidelines are not unanimous. On one hand, correction osteotomy is not recommended until the completion of growth, while on the other hand excision of the cartilaginous hypertrophy in early childhood (before the age of 4) is postulated. Since there are less than 100 cases described in literature, another 8 cases of this extremely rare disease are to be presented here.

Adolescent↗
PubMed1988

Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis.

The Proteus syndrome (PS) and the Bannayan-Zonana syndrome (BZS) both have multiple hamartomata as prominent features. Hemihypertrophy, macrodactyly, exostoses, skin lesions, scoliosis, and sporadic occurrence are seen in PS, whereas patients with BZS have macrocephaly and related craniofacial findings. BZS has been observed in families as an autosomal dominant trait. Although the two syndromes can be distinguished in most patients, there are features in common to both that may pose a diagnostic dilemma in an isolated case. We report the case of a 3-year-old girl with macrocephaly, macrodactyly, and superficial and intra-abdominal hamartomata who illustrates the problem of differentiating between PS and BZS. We compare this patient and another recently reported patient with other published cases of PS and BZS. Patients with PS, in general, show more extensive systemic involvement, including skeletal and cutaneous manifestations. Macrocephaly, seen in all reported patients with BZS, is also found in 14% of patients with PS. Overlap among syndromes which include hamartomata as prominent features suggests that they might be etiologically or pathogenetically related. The present case also illustrates the usefulness of imaging techniques in the diagnosis of mixed mesodermal hamartomata.

Child, Preschool↗
PubMed2005

Ossicular discontinuity and exostoses in Proteus syndrome: a case report.

Proteus syndrome (PS) is a rare hamartomatous disorder characterized by mosaic overgrowth of multiple tissues that manifests early in life and is progressive. The presence of unilateral external auditory canal exostoses in a patient who is not a swimmer or surfer is suggestive of PS. However, hearing loss is not a typical feature. Here, we describe exostoses and ossicular discontinuity with conductive hearing loss in a patient with PS. The treatment consisted of canalplasty and ossicular chain reconstruction. A postoperative reduction was demonstrated in the patient's air-bone gap, from 21 dB to 13 dB for the pure tone average (four frequencies) and from 41 dB to 15 dB in the high-frequency range (6,000 to 8,000 Hz). Causes of ossicular discontinuity are discussed. Routine annual audiometric and otolaryngological evaluation should be considered in all patients with temporal bone involvement of PS.

Adolescent↗
PubMed1988

Cutaneous manifestations of the Proteus syndrome.

The Proteus syndrome is a rare disorder in which the major manifestations are skeletal overgrowth, digital hypertrophy, exostoses of the skull, and hamartomatous tumors. Numerous skin lesions also occur. We treated six individuals, all of whom had the features unique to this syndrome of marked hypertrophy of the skin of the soles. The palms were similarly involved in two patients. Light microscopy of biopsy material from thickened areas of the soles showed elongation of the cytoplasm of the basal cells. Large epidermal nevi were present in three persons, as were linear macular lesions with areas of depigmentation and hyperpigmentation.

Abnormalities, Multiple↗