Unusual Clinical Features Research Articles

Sarcoidosis in the aged: review and management

We intend to update the data of various clinical features and management of sarcoidosis in the aged. Subclinical or inapparent systemic involvement of sarcoidosis was found at autopsy in elderly patients who died from sarcoidosis, complication of malignancy, or cerebrovascular accidents. Sarcoidosis in the aged presents with unusual intrathoracic and extrapulmonary clinical features. Occasionally, these features may masquerade as malignancy. Sarcoidosis may appear or reactivate in patients receiving treatment with tumor necrosis factor antagonists or antiviral treatment. In elderly patients, antitumour necrosis factor treatment is effective for refractory sarcoidosis, methylphenidate hydrochloride for fatigue, and bosentan for sarcoidosis-associated pulmonary hypertension. Inhaled prostacyclin has been found to be effective in some patients with pulmonary hypertension. Sarcoidosis and malignancy can coexist. Autopsy studies revealed that both apparent and subclinical or inapparent systemic involvement of sarcoidosis might exist in aged patients with sarcoidosis. Aged sarcoidosis patients often present with unusual clinical features of sarcoidosis. Occasionally, these features resemble malignancy. New treatment with tumor necrosis factor antagonists for intractable sarcoidosis, methylphenidate hydrochloride for fatigue, and bosentan for sarcoidosis-associated pulmonary hypertension may be effective in sarcoidosis in the aged. Sarcoidosis and malignancy may coexist.

Limb-Shaking Transient Ischaemic Attacks in Patients With Internal Carotid Artery Occlusion: A Case-Control Study

Conclusion: Transient ischemic attacks (TIAs) marked by limb-shaking are associated with high-grade carotid stenosis or internal carotid artery occlusion and can be recognized by short duration and precipitation by rising or exercise. They are also accompanied frequently by paresis and indicate an impaired hemodynamic state of the brain. Summary: Case-reports have described limb-shaking as an unusual clinical feature of TIAs (Klijn CJ, et al [Neurology 2000; 55: 1806-12] and Firlik AD, et al [Neurosurgery 1996;39:607-11]). The limb-shaking characterizing these TIAs consists of brief, jerky, and coarse involuntary movements involving an arm or a leg and has been associated with high-grade stenosis or occlusion of the internal carotid artery (ICA). An unanswered question is whether patients with high-grade ICA stenosis or occlusion who have limb-shaking TIAs have a worse hemodynamic flow state than patients with ICA stenosis or occlusion who do not have limb-shaking TIAs. In this study the authors sought to describe clinical characteristics of limb-shaking in patients with TIAs or moderately disabling strokes associated with occlusion of the ICA. They also sought to investigate whether the hemodynamic state of the patients with limb-shaking is worse than in patients with symptomatic ICA occlusion without limb-shaking. The authors studied 34 patients (82% men; mean age, 62 ± 7 years) who had limb-shaking associated with ICA occlusion and 68 age-matched and sex-matched controls who had hemispheric TIAs or minor disabling strokes and ICA occlusion but who did not have limb-shaking. They investigated collateral pathways using contrast angiograms and also studied carbon dioxide reactivity measured by transcranial Doppler imaging. Limb-shaking TIAs were found to last <5 minutes and were often accompanied by paresis of the involved limb. Patients with limb-shaking TIAs compared with controls more frequently had symptoms precipitated by exercise or rising (odds ratio [OR], 14.2; 95% confidence interval [CI], 4.2-47.9). Patients with limb-shaking TIAs also more frequently had recurrent ischemic deficits after ICA occlusion before inclusion in this study (OR, 8.2; 95% CI, 2.3-29.3). Patients with limb-shaking TIA's also tended to have lower carbon dioxide reactivity (mean, 5% ± 16% vs 12% ± 17%; OR. 0.97 per 1% increase; 95% CI, 0.94-1.00). Patients with limb-shaking TIAs had a greater dependence on leptomeningeal collaterals (OR, 6.8; 95% CI, 2.0-22.7). Comment: Limb shaking as a manifestation of a TIA is a relatively unknown to most vascular surgeons. Most of these patients have ICA occlusion; 10% of patients with ICA occlusion will have limb-shaking TIAs. Some of these patients, however, have high-grade ICA stenosis rather than occlusion and therefore are of interest to the peripheral vascular surgeon. It is important to note that this particular form of TIA is likely hemodynamic and not embolic. Patients with limb-shaking TIAs undergoing carotid endarterectomy therefore, perhaps, should be strongly considered for shunting during the performance of the endarterectomy when technically feasible.

Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature

Background and Case PresentationA patient with nevoid basal cell carcinoma syndrome (Gorlin syndrome) presented with two unusual clinical features, i.e. adenocarcinoma of the small bowel and extensive mesenchymal proliferation of the lower gastrointestinal tract.ConclusionsWe discuss the possibility that these two features are pathogenetically linked to the formerly undescribed patient's PTCH germ line mutation.

Localized Idiopathic Internal Resorption in the Primary Dentition.

We present the clinical and histological findings in a case of a six year old male patient who had unexplained sequential spontaneous abscesses associated with an unusual pattern of resorption, resulting in the loss of his non-carious second primary molars. Despite a wide differential diagnosis, the case represents unusual clinical and histological features of resorption in multiple primary teeth.

Immunoglobulin G4 related systemic sclerosing disease involving the temporal bone

To report a rare condition affecting the temporal bone. Immunoglobulin G4 related systemic sclerosing disease is a recently described autoimmune condition with manifestations typically involving the pancreas, biliary system, salivary glands, lungs, kidneys and prostate. Histologically, it is characterised by T-cell infiltration, fibrosis and numerous immunoglobulin G4-positive plasma cells. This condition previously fell under the umbrella diagnosis of inflammatory pseudotumour and inflammatory myofibroblastic tumour. We present the case of a 58-year-old woman with multiple inflammatory masses involving the pharynx, gall bladder, lungs, pelvis, omentum, eyes and left temporal bone, over a seven-year period. We describe this patient's unusual clinical course and pathological features, which resulted in a change of diagnosis from metastatic inflammatory myofibroblastic tumour to immunoglobulin G4 related systemic sclerosing disease. We also review the literature regarding the management of inflammatory pseudotumours of the temporal bone, and how this differs from the management of immunoglobulin G4 related systemic sclerosing disease. We would recommend a full review of all histological specimens in patients with a diagnosis of temporal bone inflammatory pseudotumour or inflammatory myofibroblastic tumour. Consideration should be given to immunohistochemical analysis for anaplastic lymphoma kinase and immunoglobulin G4, with measurement of serum levels of the latter. Management of the condition is medical, with corticosteroids and immunosuppression, rather than surgical excision.

Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features

Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features

Multiple intracranial abscesses due toCryptococcus neoformans: an unusual clinical feature in an immunocompetent patient and a short review of reported cases

We present a case of multiple intracranial abscesses caused by Cryptococcus neoformans in a patient who presented with no symptoms of immunodeficiency.

Pityriasis amiantacea-like eruptions in scalp: A novel manifestation of pityriasis rosea in a child

Unusual clinical features are known in pityriasis rosea (PR). We report a case of a child who presented with onset of PR in scalp, clinically mimicking pityriasis amiantacea. Careful clinical observations and follow-up led us to appropriate diagnosis.

Tuberculosis verrucosa cutis developing over a keloid: A rare presentation

Cutaneous tuberculosis can present as either primary or secondary infection, or it can be associated with systemic tuberculosis. It can present with unusual clinical and histological features causing delay in diagnosis and treatment. Tuberculosis verrucosa cutis occurs as a single verrucous lesion over exposed areas of the body along with inflammatory borders and discharging sinus. Here, we are presenting a rare case of tuberculosis verrucosa cutis developing over a keloid. There is no report of such case in literature so far.

An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel geneSCN4A

Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium channel gene SCN4A, leading to an Arg222Trp mutation in the channel protein. The patients described here presented unusual clinical characteristics that included a severe respiratory phenotype, an incomplete penetrance in female carriers, and a different response to medications.

Isolated degeneration of the posterior column as a distinct entity—A clinical and electrophysiologic follow-up study

Objective The aim of the study was to better describe the long term clinical course and electrophysiologic and radiologic findings in isolated degeneration of the posterior column. Methods Four patients with the presenting symptoms of a progressive tabetic ataxia were followed up clinically and electrophysiologically over up to 15 years between 1997 and 2008. They received standardized neurological examinations, electrophysiologic testing with SEP, MEP, NCV, EMG, autonomic testing and cardiac evaluation, head and spine MRI, laboratory evaluation including CSF analysis. Results Progressive gait ataxia due to pallhypasthesia and loss of position sense with areflexia remained the only symptoms. Pes cavus deformity was a notable clinical feature in all cases. There was no involvement of other systems and all patients remained fully ambulatory. There was no cardiac involvement. Electrophysiology was characterized by absent cortical tibial SEP with normal lumbar complexes and normal nerve conduction studies and transcortical magnetic stimulation as well as sympathetic skin response. MRI of the cord was normal. Laboratory analysis and CSF were unrevealing. Conclusion Isolated degeneration of the posterior column is a rare condition with a clinically benign course without progression involving other systems and characteristic electrophysiologic findings (isolated loss of cortical tibial-SEP with normal lumbar leads). Pes cavus deformity seems to be an unusual but typical clinical feature. The etiology is most likely a sporadic degenerative disease of the cord.

Primary cutaneous diffuse large B cell lymphoma relapsed solely as a huge lung tumor mimicking a primary pulmonary lymphoma

Primary cutaneous large B cell lymphoma, leg type (PCLBCL-leg) has recently been identified and recognized as a specific entity. Patients with PCLBCL-leg have a higher relapse rate and a poorer prognosis than the other types of primary cutaneous B cell lymphomas, and disease relapse is confined to the skin in the majority of cases with rare exclusive extracutaneous progression. The late occurrence of lymphoma in patients with a prior history of lymphoma may represent a relapse/progression or a distinct tumor unrelated to the original one. The distinction is of important clinical and therapeutic implications. Here, we report the case of a 90-year-old lady with a history of PCLBCL-leg in complete remission after radiotherapy that developed a huge, solitary pulmonary lymphoma without lymphadenopathy 14 months later. The latter was initially considered as stage IE primary pulmonary lymphoma and was treated with combination chemotherapy resulting in complete remission. Retrospective pathologic review and B cell clonality study revealed that the pulmonary tumor was a diffuse large B cell lymphoma of the same clonal origin as the PCLBCL-leg. This case is unique in the exclusive pulmonary relapse and illustrates the importance of expert pathological review and molecular study in the management of lymphoma patients with unusual clinical features.

Thoracic vasculitis presenting as surgical problems

We present four patients with vasculitis manifesting with unusual clinical or pathological features, generating surgical problems. Two cases presented with pulmonary hypertension, with investigations and radiological evidence prompting clinical suspicion of pulmonary thrombo-embolic disease. First case, with an antecedant history of Wegener's granulomatosis (WG), demonstrated following "embolectomy", WG involving the large pulmonary elastic arteries. The second case of inoperable "pulmonary thrombo-embolic disease" was subsequently found at limited post mortem to have giant cell arteritis, which affected widespread small peripheral pulmonary arterial vessels. The other two cases were of aortitis occurring in the background of immune-mediated disease, which had been treated with aggressive immunosuppression regimens. The first of these was a case of Cogan's syndrome complicated by descending aortitis, a rarely reported phenomenon, with co-existent acute endocarditis of the aortic valve leaflets. Most cases of endocarditis in this context occur secondary to and in continuity with ascending aortitis. That this case, and a case of ascending aortitis occurring in the context of relapsing polychondritis occurred in the face of aggressive immunosuppression with an apparent clinical response, underscores the need to not accept a clinical picture at face value. This has implications for clinical management, particularly in the follow-up of surgical prosthetic devices such as grafts which may be used in these cases. All four cases emphasise the continued importance of histology and the post-mortem examination in elucidating previously undetected or unsuspected disease.

Unmasking of PML by HAART: Unusual clinical features and the role of IRIS

For patients with HIV/AIDS, highly active antiretroviral therapy (HAART) is currently the only effective therapy for progressive multifocal leukoencephalopathy (PML), a viral-induced demyelinating disease caused by polyomavirus JC. Immune reconstitution inflammatory syndrome (IRIS) following initiation of HAART can cause paradoxical clinical deterioration in patients with established PML. Because the onset of PML follows soon after initiation of HAART in some cases (unmasking), we investigated the role IRIS plays in unmasked PML. We reviewed records of 20 PML cases seen from 1997–2006 at the UCSD HIV primary care clinic. Eight cases presented with PML symptoms within 6 months of initiating HAART (referred to hereafter as unmasked PML), six patients were diagnosed with PML before initiating HAART, and six were diagnosed more than 6 months after starting HAART. Patients with unmasked PML constituted 40% of our series, had relatively long survival, and commonly (50%) had lesions exclusively in the posterior fossa, a localization not previously reported with such a high prevalence. Only 3 of the 8 patients with unmasked PML had IRIS reactions as evidenced by contrast enhancement around lesions on MRI, suggesting that IRIS is not necessary for the pathogenesis of this syndrome.

Myopericytoma in Patients With AIDS

Myopericytoma is an uncommon, benign perivascular myoid cell tumor that occurs almost exclusively in somatic soft tissues. We report 2 cases occurring in patients with acquired immunodeficiency syndrome who show unusual clinical and biologic features. One patient presented with a bronchial mass and the other developed mass lesions of the tongue, vocal cord, and brain. Histologically, oval to plump spindly tumor cells with uniform nuclei and scanty cytoplasm formed sheets or cuffs around gaping or narrow vascular spaces. Focally, these areas merged into fascicles of more elongated cells with eosinophilic cytoplasm. The tumor cells were immunoreactive for actin but not desmin, and showed uniform labeling for Epstein-Barr virus (EBV) encoded RNAs on in-situ hybridization. Both patients were alive 5 years after incomplete excision of the lesions. In conjunction with another case reported in the literature, myopericytoma occurring in acquired immunodeficiency syndrome patients exhibits several features distinct from sporadic myopericytoma: presentation in anatomic sites other than somatic soft tissues, frequent presence of multifocal disease, and association with EBV. This tumor type therefore also broadens the spectrum of neoplasms associated with EBV.

A case of epidermolysis bullosa acquisita with unusual clinical features

A 30-year-old woman developed epidermolysis bullosa acquisita (EBA) with unusual clinical features. Initially, only prurigo-like nodules were seen, which lasted for > 2 years and then blisters appeared. Eruptions resembling the rash in systemic lupus erythematosus were also seen on the face. Histopathological examination of a biopsy specimen revealed subepidermal blisters containing eosinophils and neutrophils. Direct immunofluorescence examination, indirect immunofluorescence examination using skin split with 1 mol/L sodium chloride, and immunoblotting analysis using extracts of normal human dermis gave results compatible with EBA. This case shows that EBA can present with nodular lesions as seen in pemphigoid nodularis or epidermolysis bullosa pruriginosa.

Human Paragonimiasis in North America following Ingestion of Raw Crayfish

Paragonimiasis (human infections with the lung fluke Paragonimus westermani) is an important public health problem in parts of Southeast Asia and China. Paragonamiasis has rarely been reported from North America as a zoonosis caused by Paragonimus kellicotti. Paragonimus species have complex life cycles that require 2 intermediate hosts, namely, snails and crustaceans (ie, crabs or crayfish). Humans acquire P. kellicotti when they consume infected raw crayfish. Humans with paragonimiasis usually present with fever and cough, which, together with the presentation of hemoptysis, can be misdiagnosed as tuberculosis. Only 7 autochthonous cases of paragonimiasis have been previously reported from North America. Our study describes 3 patients with proven or probable paragonimiasis with unusual clinical features who were seen at a single medical center during an 18-month period. These patients acquired their infections after consuming raw crayfish from rivers in Missouri. It is likely that other patients with paragonimiasis have been misdiagnosed and improperly treated. Physicians should consider the possibility that patients who present with cough, fever, hemoptysis, and eosinophilia may have paragonimiasis.

T-Cell Project: an international, longitudinal, observational study of patients with aggressive peripheral T-cell lymphoma

Peripheral T-cell lymphomas (PTCLs) comprise a heterogeneous group of neoplasms that are derived from post-thymic lymphoid cells at different stages of differentiation and with different morphological patterns, phenotypes, and clinical presentations. PTCLs are highly diverse, reflecting the diverse cells from which they can originate and are currently sub-classified using World Health Organization (WHO) 2008 criteria. Peripheral T-Cell Lymphomas account for 5%-10% of all lymphoproliferative disorders in the Western hemisphere, with an overall incidence of 0.5-2 per 100,000 individuals per year, and have a striking epidemiological distribution, with higher incidence in Asia. The clinical features of PTCL are extremely heterogeneous. PTCLs express even more clinical diversity than B-cell non-Hodgkin's lymphomas, and there is a close, though not absolute, relationship between some unusual clinical features and certain histological subtypes.

Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family

Introduction Familial cortical myoclonic tremor with epilepsy (FCMTE) is defined by an autosomal-dominant inheritance, adult onset of myoclonus of the extremities, infrequent epileptic seizures, a non-progressive course, polyspikes on electroencephalography (EEG), photosensitivity, giant somatosensory-evoked potentials (SEP), enhancement of C-reflex and a premyoclonus spike detected by jerk-locked EEG back-averaging. Two genes yet to be identified are mapped to 8q23.3-q24.1 and 2p11.1-q12.2. Methods The present study involved five generations of a French family presenting with FCMTE, including 76 family members. Clinical analyses were performed in 39 living subjects and electrophysiological studies in five patients. Altogether, 27 relatives (21 living and six deceased) had the clinical characteristics of FCMTE, 17 of whom were analyzed. Linkage analyses were performed with microsatellites encompassing the two known loci (8q 23.3-q24.1 and 2p11.1-q12.2). Results Mean age at onset in the 17 living patients was 28.8 years (range 24–41). All had myoclonus/cortical tremor, and 11/17 had generalized tonic-clonic seizures. Other clinical symptoms were photosensitivity (16 cases), partial seizures (five cases), sensitivity to starvation/exercise (six cases) and vibration (four cases), ophthalmic migraine (six cases) and gait disorders (10 cases). Electrophysiological studies confirmed the FCMTE diagnosis in the five studied patients. Of the remaining relatives, 14 were considered healthy (asymptomatic subjects aged more than 40 years) and eight were of unknown status (asymptomatic aged lesser than 40 years). The pattern of inheritance was consistent with autosomal-dominant inheritance, although the two loci responsible for FCMTE were excluded. Conclusion This large family highlights some unusual clinical characteristics and suggests the presence of a third gene. Genetic research is ongoing to identify the mutated gene.

Unusual cutaneous features of syphilis in patients positive for human immunodeficiency virus

Dermatologists commonly find it difficult to diagnose syphilis, because of its protean clinical features. In cases of co-infection with human immunodeficiency virus (HIV) syphilis may present particularly unusual clinical features, further confounding the diagnosis. We report two cases of syphilis/HIV co-infection in Japanese patients showing uncommon skin features that made the diagnosis of syphilis difficult. These cases underline the need for dermatologists to be more aware of atypical cutaneous features of syphilis in patients positive for HIV.