Distinct Clinical Variants Research Articles

1963 – Difficulty in the psychopharmacological approach of fronto-temporal dementia- case report

Introduction The clinical syndromes related to fronto-temporal lobar degeneration are the second most common cause of pre-senile primary dementia. There are three distinct clinical variants: behavioral-variant fronto-temporal dementia (BvFTD), semantic dementia and progressive non-fluent aphasia. BvFTD is characterized by a significant change in the patients personality and social behavior, and impaired executive function. Objectives Review the current literature on both the pharmacologic and nonphar- macologic management of fronto-temporal dementia. Aims Brief literature review. Methods Case report and literature review. Results We describe case of a 65-years-old male with hyperactivity, desinhibition, aggressive, stereotyped and persevering behaviors with continuous walking and changes in eating habits (hyperphagia). He also presented distractibility, poor speech with loss of spontaneity, an indifferent attitude, mental rigidity, inflexibility, and lack of insight for his condition. This condition developed within one year, with a change in his personality and the appearance of an inadequate social conduct, with an insidious onset and gradual progression. He has family history of dementia. Computerized Tomography scan shows lobar fronto-temporal atrophy. During hospitalization no drugs has had effect, apart from paroxetine (partial response). Conclusion Concerning therapy, several drugs were used without proved effect in controlling the symptoms, highlighting the difficulty in the psychopharmacological approach of this disorder. The selective serotonin reuptake inhibitors have shown some effect on behavior.

Hypertrophic (Verrucous) Cutaneous Lupus Erythematosus of the Lip and Oral Cavity: A Series of 4 Cases

So-called “hypertrophic cutaneous lupus erythematosus (LE)” (also termed “verrucous cutaneous LE”) is a dis-tinct and rare clinical variant of chronic cutaneous LE that is characterized by intense tissue hyperplasia and hyperkeratosis. Hypertrophic LE causes marked disfigu-rement and is usually resistant to therapy (1, 2). Lesions occur more commonly on the face and upper limbs, with no specific mention in the literature of lesions occurring on the lips or oral mucosa. We describe here a series of 4 cases with a diagnosis of LE who presented with hypertrophic lesions on the skin and oral mucosa. Clinical and laboratory data are presented, together with detailed characterization of the mucosal involvement.CaSE REpoRtSClinical data for the 4 patients are shown in table SI (available from http://www.medicaljournals.se/acta/content/?doi=10.2340/00015555-1433). all patients presented hypertrophic cutaneous LE of longstanding duration. only patient 1 had multiple active cutaneous LE lesions at the time of examination (Fig. 1A, B). Skin lesions in patients 2 and 4 were mainly residual, with intense scarring. The lesion in patent 3 was confined to the lip area (Fig. 1C–F). Histopathology of biopsied oral lesions revealed marked hyperkeratosis, presence of a granular layer, focal hydropic degeneration of the basal layer, necro-tic basal keratinocytes, and melanophages of variable intensity (Fig. 1G, H). There were no signs of kerati-nocytic atypia. Dermal components included dilated papillary vessels, mucin, and scarce inflammatory in-filtrate, except for case 2, in which inflammatory cells were abundant in a superficial and deep pattern. Direct immunofluorescence findings were non-diagnostic.In patients 1, 2 and 3, LE activity was more pronoun -ced on the tegument. In addition to skin lesions, patient 4 had a several year history of lupus arthritis.DISCuSSIonthere are few published case series of oral compromise in LE. of these, some uniformity can be observed in the clinical picture, despite the great variety of descriptive terms employed (“oral discoid lesion”, “chronic pla-que”, “lupus cheilitis”, “acute ulcer”, “erythematous ulcer”, “ulcerated plaque”, “pebbly red areas”, “ho-neycomb lesions”, “keratotic white lesion”, “purpuric lesion”, and “diffuse palatal petechial erythema”, among others); a clinical characterization based on established dermatological criteria would be useful. Our group has proposed a method that simply compares mucosal LE lesions with their cutaneous counterparts (acute, subacute and chronic mucosal LE in analogy to acute, subacute and chronic cutaneous LE) in order to better understand those lesions (3).We describe here 4 patients with what is known as hypertrophic/verrucous LE (a subtype of chronic cuta -

Melanoma of the hand and foot: a distinct clinical variant of cutaneous melanoma

Melanoma of the hand and foot: a distinct clinical variant of cutaneous melanoma

FDG-PET findings in fronto-temporal dementia: A case report and review of literature

Fronto-temporal lobar degeneration (FTLD) is a clinically and pathologically heterogeneous syndrome, characterized by progressive decline in behavior or language associated with degeneration of the frontal and anterior temporal lobes. Three distinct clinical variants of FTLD have been described. Despite the difficulties, accurate diagnosis is critical because the clinical management differs for Alzheimer's disease (AD) and FTLD. Positron emission tomography with fluro-deoxy-glucose (FDG-PET) typically shows sufficient abnormalities that can be used to improve the accuracy of distinguishing AD from FTLD in individual cases. Though temporo-parietal hypometabolism is sensitive in diagnosis of AD, it is less specific. The importance of evaluating the cingulate and anterior temporal cortices for arriving at a diagnosis of FTLD is stressed.

Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management.

Frontotemporal lobar degeneration (FTLD) is a clinically and pathologically heterogeneous syndrome, characterized by progressive decline in behaviour or language associated with degeneration of the frontal and anterior temporal lobes. While the seminal cases were described at the turn of the 20th century, FTLD has only recently been appreciated as a leading cause of dementia, particularly in patients presenting before the age of 65 years. Three distinct clinical variants of FTLD have been described: (i) behavioural-variant frontotemporal dementia, characterized by changes in behaviour and personality in association with frontal-predominant cortical degeneration; (ii) semantic dementia, a syndrome of progressive loss of knowledge about words and objects associated with anterior temporal neuronal loss; and (iii) progressive nonfluent aphasia, characterized by effortful language output, loss of grammar and motor speech deficits in the setting of left perisylvian cortical atrophy. The majority of pathologies associated with FTLD clinical syndromes include either tau-positive (FTLD-TAU) or TAR DNA-binding protein 43 (TDP-43)-positive (FTLD-TDP) inclusion bodies. FTLD overlaps clinically and pathologically with the atypical parkinsonian disorders corticobasal degeneration and progressive supranuclear palsy, and with amyotrophic lateral sclerosis. The majority of familial FTLD cases are caused by mutations in the genes encoding microtubule-associated protein tau (leading to FTLD-TAU) or progranulin (leading to FTLD-TDP). The clinical and pathological heterogeneity of FTLD poses a significant diagnostic challenge, and in vivo prediction of underlying histopathology can be significantly improved by supplementing the clinical evaluation with genetic tests and emerging biological markers. Current pharmacotherapy for FTLD focuses on manipulating serotonergic or dopaminergic neurotransmitter systems to ameliorate behavioural or motor symptoms. However, recent advances in FTLD genetics and molecular pathology make the prospect of biologically driven, disease-specific therapies for FTLD seem closer than ever.

Genetics of sarcoidosis

Increased familial occurrences as well as different disease modes in different ethnic groups suggest a genetic influence in sarcoidosis. Also, genetic analyses have revealed a number of chromosomal regions and specific genes associated with sarcoidosis. This review brings up some recent discoveries on the genetic contribution to sarcoidosis. As a more detailed clinical classification of patients is performed, stronger genetic associations between distinct clinical phenotypes and specific gene variants have been revealed. The strong association between human leucocyte antigen DRB10301/DQB10201 and good prognosis in patients with Löfgren's syndrome is one such recent example. Linkage studies have revealed certain chromosomal regions of interest and furthermore pointed out specific genes of interest, for example, a variant of the butyrophilin-like 2 gene. Sarcoidosis is a complex disease which is influenced by a multitude of genes and environmental factors. The strongest genetic associations are found within the human leucocyte antigen region, in which several specific human leucocyte antigen alleles clearly associate with disease risk and phenotype, but additional genes in the same region may turn out to be important as well. Future studies on large, clinically well defined patient cohorts will help to elucidate the genetic impact on sarcoidosis.

Biology and treatment of Burkittʼs lymphoma

Burkitt's lymphoma is a unique hematological malignancy remarkable for its biological characteristics, including aberrant expression of the MYC oncogene, and its requirement for intensive treatment regimens. This review will focus on those features, and discuss recent advances in the molecular biology and advancing treatment options for the disease. Advances in molecular biology have provided many new insights into the biology and treatment options for Burkitt's lymphoma. Microarray technology has recently been used to define a molecular gene expression signature for Burkitt's lymphoma. This signature allows for the differentiation of Burkitt's lymphoma from other forms of non-Hodgkin's lymphoma such as diffuse large B-cell lymphoma. Recent advances in the use of biological agents, such as rituximab, have also allowed for a reduction in treatment toxicities while still offering comparable survival outcomes for patients. Burkitt's lymphoma is an interesting mature B-cell non-Hodgkin's lymphoma that has numerous distinct features and clinical variants depending on factors such as geographical location, immunological status and patient's age. Although the role of the MYC oncogene has been well studied, we are only now appreciating the defining molecular characteristics of this disease, and using these advances to improve treatment options for patients.

ATYPICAL CLINICAL VARIANTS IN NEW WORLD CUTANEOUS LEISHMANIASIS: DISSEMINATED, ERYSIPELOID, AND RECIDIVA CUTIS DUE TO LEISHMANIA (V.) PANAMENSIS

In recent times, there has been an increase in the number of reports for new and rare variants of cutaneous leishmaniasis (CL). Here, we describe three unusual clinical forms of CL identified in Ecuadorian children. A total of 131 patients with CL were diagnosed over a 2-year period of active search. In 3 (2.29%), the lesions were very unusual; these included erysipeloid, recidiva cutis (LRC), and disseminated leishmaniasis (DL). The erysipeloid case is characterized by erythematous and indurated plaque seen on the face of a 5-year-old boy; the LRC one is differentiated by slowly progressing red-brown papules around large scars of healed sores in a 6-year-old girl, and the DL case is characterized by dozens of cutaneous ulcers distributed in the whole body of a 1-year-old girl. Leishmania parasites were isolated by lesion aspirate and analyzed by the technique multilocus enzyme electrophoresis (MLEE). All three isolates were identified as Leishmania (Viannia) panamensis. These distinct clinical variants rarely have been reported previously in the American cutaneous leishmaniasis, and for the first time L. (V.) panamensis was identified as the etiologic agent. Our cases extend the spectrum of clinical presentations in New World leishmaniasis.

Anti-ganglioside antibodies and clinical outcome of patients with Guillain-Barré Syndrome in northeast Brazil.

The goal of this study was to investigate the frequency of GM1 antibodies and to assess whether exposure to Campylobacter jejuni was associated with a distinct clinical variant of Guillain-Barré Syndrome (GBS) or disease outcome in Rio Grande do Norte, Brazil. Forty-one patients with a presumed diagnosis of GBS were enrolled and prospectively studied between June 1994 and November 1999. Anti-GM1 was present in 51.2% (n = 21) of patients. The presence of anti-GM1 was significantly associated with acute axonal motor neuropathy when compared to acute inflammatory demyelinating polyneuropathy (P = 0.01). Patients with anti-GM1 antibodies presented distal muscle involvement and fewer sensory deficits. Age, time to nadir and ventilatory assistance were not associated with anti-GM1 antibodies. Eight out of 21 patients (32%) presented with anti-C. jejuni antibodies. Clinical features were similar for patients with GBS with positive and negative C. jejuni antibodies. Anti-GM1 antibodies were associated with C. jejuni infection (P = 0.0005). Presence of anti-GM1 and C. jejuni antibodies did not indicate a worse prognosis. Patients with GBS and anti-GM1 antibodies had more distal muscle weakness, fewer sensory deficits, more axonal degeneration and C. jejuni infection, but these findings were not associated with a worse prognosis.

Upper limb ischemia after vascular access surgery: differential diagnosis and management.

Hand ischemia following placement of upper limb arteriovenous accesses for dialysis may result in debilitating complications and contribute to morbidity and mortality on dialysis. Two distinct clinical variants of hand ischemia are recognized: vascular steal syndrome, in which a spectrum of severity of ischemic changes affect all tissues of the hand; and ischemic monomelic neuropathy, where ischemia is confined to the nerves of the hand. Early diagnosis and treatment of these complications (often including closure of the access) is imperative to prevent hand paralysis, and digital or hand amputation.

Wide Variation in Prognosis of Sézary Syndrome

Sezary syndrome is a distinct clinical variant of mycosis fungoides in which patients present with erythroderma as well as lymphadenopathy and circulating malignant lymphocytes. Overall, such patients have an extremely poor prognosis. To define the most important prognostic factors for this cohort, these investigators restrospectively studied 106 consecutive patients with erythroderma …

Giant dermatofibroma: A little-known clinical variant of dermatofibroma

Dermatofibroma is a common cutaneous lesion that usually appears as a slow-growing firm dermal nodule. Our purpose was to report the clinical and histopathologic characteristics of eight giant dermatofibromas and review the few cases of this variant of dermatofibroma reported in the literature. All clinical records of two Departments of Dermatology of University Hospitals from the past 5 years with a diagnosis of dermatofibroma were reviewed. Lesions that measured 5 cm or larger were considered for this study. Biopsy specimens were available from all lesions. Giant dermatofibromas are most frequently on the legs, especially below the knee. Often they have a pedunculated appearance. Because of their large size, the correct diagnosis is not suspected clinically; a diagnosis of malignancy is often made. Our findings indicate that giant dermatofibroma is a distinct but uncommon clinical variant of dermatofibroma that invariably exhibits a benign biologic behavior.

Malignant cyst of the lateral aspect of the neck: Branchial cleft carcinoma or metastasis?

A 58-year-old man had a left jugulodigastric mass, which was found to be cystic by computed tomography, and no evidence of other lesions. Grossly and histologically, the surgical specimen consisted of a thin-walled, fluid-filled cyst lined by squamous epithelium that varied in appearance from benign to invasive squamous cell carcinoma. The findings supported a differential diagnosis of branchial cleft carcinoma (BCCA) versus cystic growth of a lymph node metastasis from an occult malignancy. On this basis, guided biopsies of the upper aerodigestive tract were performed, with strong suspicion of a tonsillar bed lesion. Microscopic examination revealed the primary tumor within tissue excised from the left tonsillar fossa. Comparison of the current case with cases of BCCA and cystic tonsillar metastases from the literature illustrated the potential pitfalls in rendering a diagnosis of BCCA. Recognition of this lesion as a distinctive clinical variant of oropharyngeal carcinoma is warranted.

Persistent Neutrophilie Meningitis

Persistent neutrophilic meningitis is an unusual but distinct clinical variant of chronic meningitis characterized by CSF neutrophilia with hypoglycorrhachia which persists for more than 1 week on serial CSF studies. Documented etiologies include selected bacteria and higher bacteria such as Brucella, Nocardia and Actinomyces as well as "opportunistic" fungi such as Candida, Aspergillus, the Zygomycetes, and Pseudallescheria. Recognition of the syndrome is important, as empiric therapy (e.g., cotrimoxazole and amphotericin B) may differ significantly from that used for classic chronic meningitis.

Recent Developments in the Pathogenesis of Hemolytic Uremic Syndrome

With increasing experience it became obvious that HUS (hemolytic uremic syndrome) was a heterogenous entity with several distinct clinical variants and a definite overlap with TTP (tromotic thrombocytopenic purpura)

1230 OCULAR INVOLVEMENT IN NIEMANN-PICK DISEASE, TYPE B

Niemann-Pick disease (NPD) is a heterogeneous group of disorders usually designated types A-E. Each type is characterized by the accumulation of excessive sphingomyelin. This classification scheme fails for an ever-growing number of NPD patients. We report a 7½ year old male with type B Niemann-Pick disease with normal neurological and intellectual function, but who does have cherry red spots. This patient represents the fourth case of a child with the clinical and biochemical findings of type B NPD, but with evidence of involvement of neural tissue. These patients may represent a distinct clinical variant of NPD, in whom the natural history has not yet been elucidated. The existence of this subset of type B NPD has implications for genetic and biochemical studies in NPD, as well as for genetic and prognostic counseling of families.

Linear Porokeratosis

In eight cases of linear porokeratosis, the skin lesions appeared most commonly over the extremities during childhood and were clinically mistaken for linear verrucous epidermal nevus or lichen striatus. In a review of the literature, only seven instances of linear porokeratosis were found. We believe that linear porokeratosis should be recognized as a distinctive clinical variant and that the condition should be taken into consideration in the differential diagnosis of linear keratotic cutaneous eruptions.

Linear porokeratosis. A distinctive clinical variant of porokeratosis of Mibelli

In eight cases of linear porokeratosis, the skin lesions appeared most commonly over the extremities during childhood and were clinically mistaken for linear verrucous epidermal nevus or lichen striatus. In a review of the literature, only seven instances of linear porokeratosis were found. We believe that linear porokeratosis should be recognized as a distinctive clinical variant and that the condition should be taken into consideration in the differential diagnosis of linear keratotic cutaneous eruptions.

Hydatidiform keratinous cyst: clinical recognition of a benign proliferating epidermoid cyst.

Summary Attention is directed to the clinical recognition of early proliferative change in the lining of keratinous cysts. In the case reported, multiple small droplet excrescences could be observed on simple inspection. The term hydatidiform keratinous cyst is proposed as a designation for this distinctive clinical variant. Histologically it is to be distinguished from squamous cell epithelioma. It possibly represents an early clinically identifiable phase of the proliferative epidermoid cysts described by Wilson Jones (1966).