[Follicular atrophoderma, hypotrichosis, and multiple milia associated with minimal osteo-cartilaginous dystrophies. Familial study of 3 cases].
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Adult↗
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Multiple lower limb osteophytosis with macrodactyly: a case report.
A 39-year-old woman with restriction of movement and macrodactyly of the great toes was found to have severe juxta-articular multiple osteophytosis of the lower limbs. The pathogenesis of this unusual condition is unknown. It may be a variant of diffuse idiopathic skeletal hyperostosis.
Adult↗
Proteus syndrome: a newly recognized hamartomatous syndrome with significant craniofacial dysmorphology.
A new disorder describing multiple hamartomas distinct from neurofibromatosis and Klippel-Trenaunay-Weber syndrome was first reported in 1979. It was named Proteus syndrome after the Greek god Proteus, the polymorphous, who could change his shape at will to avoid capture. The clinical manifestations are extensive, including cranial exostoses; progressive enlargement, asymmetry and disfigurement of the skull; macrocephaly; exostoses of the ear canals, nasal bridge, and alveolar ridge; partial gigantism of the hands or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas, lipomas, lymphangiomas, varicosities, verrucous epidermal nevi, and long bone overgrowth. A case report of Proteus syndrome is presented and discussed along with a review of the pertinent literature.
Adolescent↗
Metachondromatosis.
OBJECTIVES: To draw attention to metachondromatosis, which may be misdiagnosed as multiple osteochondromatosis, and to point out several findings that have not been emphasized in previous reports. PATIENTS AND METHOD: The authors reviewed the relevant clinical and detailed radiographic findings for five patients from different countries, who underwent imaging at various ages during childhood. RESULTS: Deformities resembling exostoses and punctate calcification were distinctive and represent previously unemphasized features of vertebral involvement in metachondromatosis. Widespread metaphyseal changes were best seen in the femoral necks, which were broad and showed prominent cartilage columns in all of the patients. Flattening of the femoral heads was observed in three patients; in one of these the flattening progressed to epiphyseal necrosis and coxa magna. In one patient the hands and feet showed no enchondromatous involvement. CONCLUSION: Metachondromatosis is a generalized bone dysplasia predominantly affecting the tubular bones and, to a lesser degree, flat bones and the vertebral column. Significant complications may include avascular necrosis of the femoral head and progressive deformity of the small joints due to expanding local exostoses. The typical involvement of the hands and the feet may not always be seen.
Adolescent↗
Multiple huge osteomas of the mandible causing disfigurement related with Gardner's syndrome: case report.
As osteomas of the bones including the jaws may be the initial symptom or clinical finding in the Gardner's syndrome, this entity should always be included in the differential diagnosis. A 20-year-old boy was referred to our clinic from another medical center. Extra-oral examination of the patient revealed an obvious asymmetry and disfigurement of the left mandibular corpus, angle and ramus. A panoramic radiograph revealed two huge osteomas at the angle, ramus and two smaller osteomas at the inferior border of the mandible. At the same time, there were an impacted canine and premolar. Diffuse sclerosis of the whole mandible was also seen. Upon the suspicion of Gardner's syndrome, barium passage radiographs of the intestine were requested and multiple polyps were observed. All of these findings led us to the diagnosis of Gardner's syndrome. The oral and maxillofacial surgeon and the dentist needs to be aware of the components of this entity because manifestations in the head and neck including epidermoid cysts, osteomas, odontomas, exostoses, supernumerary and impacted teeth are common. At the same time, osteomas causing disfigurement on the face related with Gardner's syndrome with increased uptake in scintigraphic examination should be treated by surgical excision of the lesions.
Adult↗
Skin graft vestibuloplasty exostosis. A report of two cases.
Two cases of exostosis developing after mandibular vestibuloplasty and floor-to-mouth lowering with split thickness skin graft are presented, one with multiple recurrences. The lesion is clinically and microscopically described. Hypotheses with respect to the development of this phenomenon are proposed.
Aged↗
The Gardner syndrome.
The Gardner syndrome is characterized by polyposis coli and multiple hard and soft tissue tumors. A case of a 17-year-old male is presented who complained of painless and hard swellings on the angle of the mandible bilateraly. The patient presented the original triad of lesions of the Gardner syndrome. On the panoramic X-ray, characteristic radio-opaque lesions (exostoses and enostoses) on the jaws were shown and a compound odontoma was detected in the left side of the mandible.
Adolescent↗
Necrotizing otitis externa caused by Staphylococcus epidermidis.
We present a case of malignant necrotizing otitis externa (MNOE) caused by Staphylococcus epidermidis, which is usually a non-pathogenic microorganism. The patient is an otherwise healthy, nondiabetic 58-year-old white man. Contributory history began in 1994 after surgery for bilateral exostoses of the external auditory canals. Between April 1994 and May 1998 persistent otalgia occurred, with progressive mixed hearing losses, purulent discharge from both ears, spontaneous perforations of the tympanic membranes and ulceration of canal wall skin. From the beginning, Staph. epidermidis was isolated in all but one culture, but was not recognized as the pathological agent because of the presence of other more frequently involved bacteria and fungi. After multiple intravenous and oral antibiotics and antifungal treatments failed, further management involved frequent debridement of both external auditory canals and tympanic membranes, right tympanoplasty, bilateral mastoidectomy, revision tympanomastoidectomies and left modified radical mastoidectomy. Antistaphylococcal therapy including ceftazidime, vancomycin, teicoplanin, clindamycin and rifampicin was tried. Following the modified radical radical mastoidectomy, normalization of the status of his ears took approximately 2 months and has since remained stable to date. His left ear is deaf because of vancomycin administration, while magnetic resonance imaging and gallium scintigraphy have shown persistent inflammation of the skull base.
Aminoglycosides↗
Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome).
Tricho-rhino-phalangeal syndrome Type III (TRPS III) is a newly defined genetic entity. Only 9 patients in a family and one sporadic patient have been reported. We add another family in which 4 individuals in 3 generations are affected with this autosomal dominant trait. Although they manifested short stature, sparse hair, "pear-shaped" nose, and cone-shaped epiphyses, sharing these findings with TRPS Type I, the presence of a severe form of generalized shortness of all phalanges and metacarpals, and the absences of mental deficiency and exostoses in this family distinguish the disorder from the TRPS Types I and II. Their manifestations are quite similar to those of the patients reported as TRPS III (Sugio-Kajii syndrome).
Abnormalities, Multiple↗
Torus mandibularis among Icelanders.
Nine hundred and seventy-six Icelandic schoolchildren (489 male and 487 female) were surveyed for occurrence of torus mandibularis. No sexual dimorphism was observed but there was a statistically significant difference between areas. A highly significant positive association between age and frequency of occurrence and size was also observed. Single tori were more prevalent than multiple ones and also appeared earlier. Symmetrical occurrence predominated, but when unilateral, tori were more often found on the right side. Secular changes in the incidence of torus mandibularis among Icelanders suggest the strong influence of environmental factors.
Adolescent↗
Loss of chromosome band 8q24 in sporadic osteocartilaginous exostoses.
We have karyotyped eight sporadic osteocartilaginous exostoses (OCE), a tumor type not characterized cytogenetically before. Five tumors had only normal karyotypes, whereas three displayed the following abnormal karyotypes: 46,XY,del(8)(q24.1); 46,XX,del(8)(q22), t(8;14)(q24.1;q32); and 46,XY,der(8)t(1;8)(q21;q24),inv(12)(p11q13). All three aberrant cases thus had structural rearrangements leading to loss of the distal part of 8q. This is of particular interest because multiple OCE are part of the disease phenotype in patients with the autosomal dominant tricho-rhino-phalangeal syndrome type II (TRP II), many of whom have constitutional loss of genetic material from 8q24.1. We hypothesis that band 8q24.1 harbors a tumor suppressor gene, the homozygous inactivation of which is important in the genesis of both inherited and sporadic OCE. In the familial form, i.e., in TRP II, loss or functional inactivation of one allele is inherited and only the second mutation is due to a somatic event, whereas both mutations are somatic in the sporadic forms. This hypothesis can be tested by analysis of sporadic and inherited OCE for homozygous loss of 8q24 material with molecular genetic techniques.
Adolescent↗
Vascular anomalies in Proteus syndrome.
Proteus syndrome (PS) is a complex hamartomatous disorder defined by local overgrowth (macrodactyly or hemihypertrophy), subcutaneous tumours and various bone, cutaneous and/or vascular anomalies (VA). VA are manifold in PS, but their prevalence is unknown so far. In order to further characterize PS, we studied the prevalence of VA in 22 PS patients presenting to our outpatient clinic and reviewed 100 PS patients previously reported between 1983 and 2001. The diagnosis of vascular abnormalities was made on clinical grounds and supported with imaging studies and/or histology in 12 and seven patients out of 22, respectively. Thirty-five VA were identified in 22/22 (100%) of our patients, and more than one type of VA were present in 10 of them. Vascular tumours, portwine stains (PWS), and venous anomalies (varicosities, prominent veins) were equally common. A total of 118 VA were previously reported in 70/100 (70%) PS patients; vascular hamartomas were more prevalent (56/118 = 47.5%), whilst PWS (21.2%) and venous anomalies (22.9%) were slightly less common than in our series, but there is the possibility of under-reporting. Unlike Klippel-Trenaunay syndrome, where VA are mostly confined to the hypertrophic limb, major arteriovenous anomalies are rare, and - similar to the other hamartomas and naevi observed in PS (pigmentary naevi, epidermal naevi, subcutaneous tumours, exostoses) - VA appear to be distributed at random sites on the body. We conclude that VA are among the most common findings in PS. Their varying type and distribution lend further support to the concept of somatic mosaicism.
Abnormalities, Multiple↗
Proteus syndrome.
The term Proteus syndrome was coined in 1983 to describe a disorder of skeletal, hamartomatous, and other mesodermal malformations. The syndrome was named after the Greek god Proteus, whose name means "the Polymorphous." Clinical features of this new syndrome are currently being defined. Including the case reported herein, we have found 34 patients with Proteus syndrome described in the English literature. Major clinical findings, defined as those findings seen in more than half of the cases, include hemihypertrophy, macrodactyly, exostoses, epidermal nevi, characteristic cerebriform masses involving the plantar or palmar surfaces, a variety of subcutaneous masses, and scoliosis. Histologic examination of subcutaneous masses has identified a variety of lipomatous, hamartomatous, and angiomatous tumors.
Abnormalities, Multiple↗
A newly recognized pattern of canine osteochondromatosis.
Clinicopathological findings are described for a unique skeletal pattern of osteochondromatosis (syn. multiple osteochondromas) in three crossbred littermate dogs. Multiple nonpainful bilaterally symmetric skeletal lesions arose from focal semiannular and annular areas of periosteal thickening on the cortical surface of the metaphyses and diaphyses of long bones. Flat bones of the skull were spared. In radiographs osteochondromas in different stages of evolution were apparent. Grossly there were smoothly contoured, nodular subperiosteal masses of dense fibrocartilaginous and osseous tissue that were continuous with and overlying apparently normal but thin trabeculae of cancellous bone. Cortical compacta was attenuated or absent beneath exostoses. In histologic sections of the cartilage-capped exostoses a hyperplastic periosteum formed a focal semiannular or annular cap of proliferative hyaline cartilage tissue that underwent endochondral ossification and replacement by cancellous bone at its base. Intertrabecular spaces in the cancellous bone of exostoses were filled with fibro-osseous and hematopoietic tissue. A hereditary origin was suspected for the osteochondromas. Origin of some osteochondromas as semiannular or annular perturbations of the perichondrial ring of metaphyseal physes of long bones likely contributed to limb shortening and a pattern of billaterally symmetric angular limb deformities of all limbs as occurs in some children affected by osteochondromatosis.
Animals↗
[Proteus syndrome with cerebral vascular malformations].
INTRODUCTION: Proteus syndrome is a congenital hamartomatous dysplasia. This sporadic disorder involves the skeletal system, soft tissues, skin and vascular system. The most likely pathogenesis involves somatic mosaicism. Main manifestations included soft-tissue and epidermal nevi, partial gigantism, hemihypertrophy, exostoses, lipomas and vascular anomalies. The most common brain abnormalities are hemimegencephaly and migrational disorders. We present a case of Proteus syndrome with cerebral vascular anomalies which are not described previously. CLINICAL CASE: Our patient is a 61 year-old male who has hypertrophy of the four limbs, macrodactyly and hypertrophy of chest and abdomen asymmetric with mild facial asymmetry. Prominent and abundant of the four extremities and trunk, also asymmetric. Vascular tumors in the skin of trunk and left limb. Cerebral MRI shows venous angiomas and multiple cavernous malformations. CONCLUSION: Clinical diagnostic criteria of Proteus syndrome are documented in our patient. He also has brain vascular malformations which are not described previously in the literature. We consider that both findings are not a product of causality due to the high prevalence of systemic vascular hamartomatous malformations in these patients. We hypothesize that a single mutation, probably involving genes in relation with apoptotic control will be responsible of Proteus syndrome and cerebral vascular anomalies in our patient, due to a defect of angiogenesis.
Brain↗
The diagnostic significance and management of Gardner's syndrome.
Gardner's syndrome is a hereditary disorder characterised by gastrointestinal polyposis, bony osteomata, epidermoid cysts, desmoid tumours and unerupted teeth and odontomes. The major significance of the condition lies in the gastrointestinal polyposis and the high propensity of these polyps to undergo malignant change. The syndrome is no longer considered as a separate genetic entity to familial adenomatous polyposis (FAP) and the multiple stigmata are common to both conditions. A case of Gardner's syndrome is reported and the condition reviewed. The aim being to emphasise those features seen in the head and neck region and their particular importance in terms of early recognition and diagnosis of the underlying disease. The subsequent management of such patients is discussed.
Adult↗
Craniofacial characteristics of Proteus syndrome: two modes of abnormal growth.
The dysmorphic growth patterns of the craniofacial skeleton are summarized in five patients with the Proteus syndrome. Two different modes of abnormal growth are present. One mode involves focal overgrowth of membrane bones, producing multiple hyperostoses which result in progressive craniofacial disfigurement and asymmetry. The second mode involves overgrowth of cartilage in the condyle, resulting in dentofacial asymmetry. The phenotype of the craniofacial skeleton results from both processes. In terms of appearance, the mode involving hyperostosis seems more dramatic in most cases than the mode involving cartilage.
Adolescent↗
Familial basal cell nevus syndrome.
The basal cell nevus syndrome is characterized by multiple basal cell nevi and basal cell carcinoma, cysts of the jaw, anomalies of ribs and spine, abnormal calcifications, and additional anomalies of the facial skull. A German family is described with manifestations of the syndrome in the mother and her three daughters. Expressivity was variable, in part due to age effects. The observation conforms to the assumed autosomal dominant mode of inheritance with high penetrance.
Adult↗