Linear IgA Bullous Dermatosis: A Rare Clinicopathologic Entity with an Unusual Presentation

Linear immunoglobulin A bullous dermatosis is a rare autoimmune mucocutaneous disorder caused by immunoglobulin A autoantibodies produced against several different antigens in the basement membrane zone. Clinically, it is characterized by tense vesicles or bullae, which on histopathological exam demonstrate subepidermal blister with a predominantly neutrophilic infiltrate. A smooth, linear pattern of immunoglobulin A deposition in the basement membrane zone on direct immunofluorescence is considered the gold standard for establishing a diagnosis. Treatment consists of dapsone or sulfapyridine. The authors report a 60-year-old woman who presented with pruritic erythematous patches and plaques on her trunk, back, and legs without blisters, who was diagnosed with eczema for several months with no response to prior treatments. A biopsy was performed, which was consistent with linear immunoglobulin A bullous dermatosis and later confirmed by direct immunofluorescence studies. The authors present this case to increase awareness of this rare disease, which could manifest in a nonclassical, nonblistering fashion.Linear immunoglobulin A (IgA) bullous dermatosis (LABD), also known in the literature as linear IgA dermatosis, linear IgA disease, IgA pemphigoid, and linear dermatitis herpetiformis, was first described by Bowen in 1901; however, it was not recognized as a distinct entity from dermatitis herpetiformis (DH) until 1979. LABD is a rare autoimmune vesiculobullous disease with an incidence of 0.2 to 2.3 cases per million-population per year. Epidemiologically, there is an unestablished predominance of race or sex.1,2LABD has two clinical variants. In children, the disease is better known as chronic bullous disease of childhood (CBDC) with an average presentation occurring around 4.5 years.3 In adults, two peaks are identified—teenage years and the sixties.1     

Bullous amyloidosis of the oral cavity: a rare clinical presentation and review.

Bullous amyloidosis (BA) is a rare cutaneous manifestation primarily of systemic amyloidosis, a disease in which abnormal proteinaceous material is formed and deposited in response to inflammatory conditions and plasma cell dyscrasias. Hemorrhagic bullae indicative of BA are usually associated with purpura and may be the initial clinical signs of systemic amyloidosis or monoclonal gammopathies, such as multiple myeloma and Waldenstrom's macroglobulinemia. Bullous amyloidosis of the oral cavity is highly uncommon and can mimic other vesiculobullous lesions of the oral mucosa. This article highlights an unusual case of oral BA and reviews important aspects of the disease.     

Therapy of IgA nephropathy with mycophenolate mofetil--report of 3 cases

Mycophenolate mofetil is an immunosuppressive agent in transplantation which inhibits the purin neogenesis. Proliferating lymphocytes are suppressed and antibody production is decreased. Many cases of successful therapy in different kidney diseases are reported, such as diffuse proliferative lupus nephritis, pauci-immune necrotizing glomerulonephritis, focal segmental glomerular sclerosis and IgA nephropathy. We report 3 patients with IgA nephropathy who were treated with mycophenolate mofetil for more than 1 year. In all patients, proteinuria decreased significantly and the renal function remained stable. In 2 patients, kidney biopsy was repeated after 12 months and 18 months, respectively. There were no histological signs of progression of the disease. Two patients developed infections during treatment. One patient had a pneumonia, and a second patient an infection with varizella zoster. Based on our data, mycophenolate mofetil can be a potential treatment of IgA nephropathy. Further controlled studys are warranted to investigate the role of mycophenolate mofetil in IgA nephropathy.     

Oral challenge test for the diagnosis of gingival hypersensitivity to apple: a case report.

Food intolerance is the term used to describe a hypersensitivity reaction to a food component. These reactions refer to the drug-like side effects caused by a range of chemicals that may be present in food as natural or added components. The range of symptoms which can be induced by food intolerance are very similar to those caused by food allergy, oral allergy syndrome, acute infectious diseases and vesiculobullous disorders; so that on initial presentation, it can be difficult to differentiate between these conditions. A 48-year-old woman with complaints of allergic symptoms was examined with skin prick test (SPT), specific IgE analysis, and oral challenge test for definitive allergen determination. The patient was negative in both specific IgE detection and SPT with commercial extracts of apple, whereas the oral challenge test revealed positive objective symptoms with blister and ulcer formation. Apple has been reported to be the cause of food allergy. To our knowledge, there is no report of apple intolerance in which the lesions are only confined to gingival tissues.     

Autoimmune Disease Manifestations in the Oral Cavity

Immune-related disorders of the oral cavity may occur as primary disease process, secondary to systemic disease or neoplasm, or as a reaction to medications and other agents. The entities represented within this group may vary significantly by severity, clinical presentation, microscopic presentation, and special testing results. The selected immune-related conditions of the oral cavity in this article are categorized and presented by their prototypical tissue reaction patterns: vesiculobullous, including acantholytic and subepithelial separation; psoriasiform; spongiotic; and lichenoid reaction patterns.     

Generalized eruptive histiocytosis presenting with warty lesions on face

Generalized eruptive histiocytosis is a benign proliferative disorder of non-Langerhans cells. It is a very rare disease. The disease presents with soft to firm fleshy papules on face, neck and upper trunk. Biopsy is often needed to make the diagnosis because of its rarity and diverse presentation. There is tendency for the disease to regress spontaneously without treatment. Treatment, if any needed, suffices to topical modalities. We report here a case of generalized eruptive histiocytosis which presented with lesions of dual morphology. This is a very rare disease with diverse presentation being reported first ever in our country.     

IgA nephropathy presenting with renal failure and pulmonary hemorrhage

Pulmonary renal syndromes are unusual, but frequently life-threatening manifestations of a distinct group of disorders in the pediatric age group. Although IgA nephropathy is a common cause of hematuria, it is an extremely rare cause of pulmonary renal syndrome, causing high mortality, and has mostly been reported in adult patients. We describe the youngest patient with this presentation reported to date, a 14-year-old male, who presented with end stage renal disease and pulmonary hemorrhage and was found to have IgA nephropathy by renal biopsy and pulmonary capillaritis by open lung biopsy. His lung disease was successfully treated with immunosuppressive medications. Despite this being a rare manifestation of IgA nephropathy, clinicians need to be aware of this presentation as it is potentially fatal, but amenable to aggressive immunosuppression.     

Kidney Transplantation in Alström Syndrome: Case Report

The Alström syndrome is a rare genetic disorder, inherited in an autosomal recessive manner. It has recently been classified as a ciliopathic disorder. Alström syndrome is a multiorgan pathology characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dyslipidemia, short stature in adulthood, hypothyroidism, hypogonadism, dilated or restrictive cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. End-stage renal disease can occur as early as the late teens and is the leading cause of death. More than 900 people with Alström syndrome have been reported worldwide. We present a case of a 42-year-old man affected by this syndrome with end-stage renal disease, type 2 diabetes mellitus, and loss of visual function and hearing who received a kidney transplant from a cadaveric donor. Basiliximab and steroid were used as induction therapy. Tacrolimus, mycophenolate mofetil, and steroid were used as maintenance therapy. No complications were reported during the recovery. In selected patients affected by Alström syndrome, renal transplantation can be a successful treatment for chronic kidney disease.     

Rare oral cavity presentation of a B-cell lymphoblastic lymphoma. A case report and review of the literature.

Lymphoblastic lymphoma is an uncommon malignancy, with most cases showing a T-cell phenotype and presenting as a mediastinal mass. By contrast, B-cell lymphoblastic lymphoma/leukemia is a rare high-grade malignancy that comprises approximately 10% of all lymphoblastic lymphomas. Lymphomas of the oral cavity are rare and typically present as intraosseous lesions that are most commonly diffuse large B-cell type. Here we present what we believe is the first B-cell lymphoblastic lymphoma initially presenting in the oral cavity. The case involves a 46-year-old white woman who presented with a mass in the right mandible. This report discusses this rare malignancy, including clinical presentation, histopathologic features, immunologic profile, treatment, and prognosis. This case emphasizes the importance of recognizing rare entities that may present in the oral cavity and the impact of the disease and its management.     

Chronic ulcerative stomatitis: diagnostic and management challenges--four new cases and review of literature.

Chronic ulcerative stomatitis (CUS) is a recently described mucocutaneous disease characterized by involvement of mucosal surfaces and skin. The disease usually presents in the form of painful oral ulcers and has been seen predominantly among older women. Clinically, CUS patients may exhibit erosive or ulcerative lesions of oral mucosa resembling erosive lichen planus and/or other vesiculobullous lesions. Routine histology may exhibit features of lichenoid mucositis and is often nondiagnostic. Direct immunofluorescence studies of mucosal or skin biopsies usually reveal a unique pattern of IgG bound to nuclei of keratinocytes of the basal and parabasal cell layers. Chronic ulcerative stomatitis exhibits a unique resistance to standard treatments available, including topical and systemic corticosteroids and immunomodulatory medications. However, long-lasting favorable clinical responses may be achieved with hydroxychloroquine pharmacotherapy. We present the clinicoimmunopathologic findings of four cases of CUS and discuss the varied clinical, microscopic spectrum, and treatment for this chronic, debilitating, and often recalcitrant condition. A systematic review of the literature, including 35 previously reported cases, is presented.     

Oral radiographic and clinico-pathologic presentation of Erdheim-Chester disease: a case report.

A 69-year-old woman with unexplained fever and weakness was referred for evaluation of a solitary mandibular swelling adjacent to a severely resorbed edentulous mandibular ridge. The patient had coexisting craniofacial-skeletal lesions and diabetes insipidus. Histological and immunohistochemical staining of sections from mandibular lesions confirmed the rare diagnosis of Erdheim-Chester disease. The absence of cardiac, pulmonary, renal, and major neurological manifestations was suggestive of a diagnosis at an early stage of the disease. Early diagnosis has been rare with less than 100 reported cases. A review of the literature revealed only 2 cases that report detailed maxillomandibular radiographic findings. A seemingly benign clinical presentation of a potentially grave disease that presents with an osteolytic-sclerotic oral radiographic picture is reported.     

Rosai Dorfman disease of the spine causing lumbosacral radiculopathy: A case report

Rosai Dorfman disease (RDD) also known as sinus histiocytosis with massive lymphadenopathy (SHML) is a rare non-malignant proliferative disorder of unknown etiology.Here we present a case of Rosai Dorfman disease of the spine causing lumbo-sacral radiculopathy. CT and MRI revealed lytic expansile lesion in the left half of L4 vertebra mainly involving posterior aspect involving left pedicle and transverse process. Patient underwent surgery at L3-4 level by left fenestration. Histological examination confirmed the diagnosis of Rosai Dorfman disease.Skeletal involvement is a very rare presentation seen in 2% case with involvement of long bones including tibia, femur, humerus, clavicle and bones of hand. RDD affecting the spine has been rarely reported in literature.A team approach involving the radiologist, spine surgeon, pathologist and oncologist will lead to the early diagnosis and appropriate management of this rare clinical entity.     

Anomalous Origin of the Left Anterior Descending Artery from the Pulmonary Artery

An extremely rare congenital abnormality is reported in which the anterior descending coronary artery (LAD) originates from the pulmonary trunk. The clinical presentation, angiographic findings, and surgical treatment are discussed. This is the only reported case where surgical treatment included ligation of the LAD with internal mammary artery bypass grafting.     

Pyoderma gangrenosum occurring in a lower limb fasciocutaneous flap--a lesson to learn.

Pyoderma gangrenosum is a destructive cutaneous disease characterised by progressive painful ulceration. The occurrence of pyoderma gangrenosum at a surgical site is rare (especially if there is no predisposing illness), but is well recognised. We present a case of a 63-year-old man who developed erythematous ulcerative lesions due to pyoderma gangrenosum in and around a lower limb fasciocutaneous flap used to cover an exposed total knee prosthesis. The lesions were initially confused with postoperative wound infection. No predisposing disorder, other than the rarely reported association with osteoarthritis, was found. The diagnosis is important because its rapid detection not only avoids unnecessary treatment but also allows for prompt intervention with oral steroids. This case is presented to alert surgeons to the presence of pyoderma gangrenosum and its diagnostic confusion with postoperative wound infection.     

Long-standing spontaneous clinical remission and glomerular improvement in primary IgA nephropathy (Berger's disease)

Of the 244 cases of IgA nephropathy diagnosed at Necker Hospital before 1981, 9 patients (3.7%) developed spontaneous clinical remission of long duration. Three of these 9 patients presented with gross hematuria, while in the others the disease was discovered by the finding of proteinuria at routine urinalysis. During the disease course 5 patients had recurrent episodes of gross hematuria, lasting several years in 4. At the time of the first biopsy all patients had hematuria and permanent proteinuria. In 1 patient, renal biopsy showed only an increase in mesangial matrix while in the others segmentary lesions were observed, affecting less than 30% of the glomeruli in 6. Diffuse mesangial deposits of IgA were present in all. During the follow-up, proteinuria and microscopic hematuria gradually decreased and completely disappeared within 4-14 years after the onset of the disease. A repeat biopsy performed during remission in 4 patients showed, in 3, an improvement of glomerular lesions and a significant decrease in IgA mesangial deposits in parallel with clinical recovery. As in other types of 'primary' glomerulonephritis, these data indicate that the initial disorder in IgA nephropathy may be spontaneously reversible even after a long course of the disease.     

An unusual presentation of classic polyarteritis nodosa in a child

Classic polyarteritis nodosa (c-PAN) is a rare disease in adults and extremely rare in children. We report a 3-year-old girl with c-PAN who presented with disturbances of consciousness and hypertension. Cranial tomography showed a subarachnoid hemorrhage. Subsequent magnetic resonance imaging and magnetic resonance angiography demonstrated subarachnoid hemorrhage and acute ischemic lesions. Renal angiography revealed bilateral multiple aneurysms. Due to her constitutional symptoms and hypertension and radiological findings she was diagnosed as having c-PAN. She was successfully treated with hydralazine followed by angiotensin-converting enzyme inhibitor, calcium channel blocker, intravenous pulse methylprednisolone, and subsequently oral prednisolone and oral cyclophosphamide. To our knowledge this is the youngest patient with c-PAN presenting with subarachnoid hemorrhage. Malign hypertension at this young age deserves a meticulous investigation of the vascular origin. Furthermore, treatment with pulse methyl prednisolone followed by oral prednisolone and oral cyclophosphamide is a successful modality of treatment in such a life-threatening presentation of c-PAN in childhood.     

Cowden's syndrome affecting the mouth, gastrointestinal, and central nervous system: a case report and review of the literature.

Cowden's syndrome (CS) is a rare genodermatosis, of autosomal dominant inheritance and variable phenotype, principally characterized by the formation of hamartomas in various organs, including skin, thyroid, breast, brain, and gastrointestinal tract and by the increased risk for the development of malignancy. The present report details the features of a very rare presentation of Cowden's syndrome affecting not only the mouth and gastrointestinal mucosa but also the central nervous system.     

Exclusive Primary Lesion of Oral Leishmaniasis with Immunohistochemical Diagnosis

A case of oral leishmaniasis without cutaneous involvement affecting the upper alveolar ridge mucosa/gingiva and the hard palate is reported in a 41-year-old Brazilian man. Microscopic examination disclosed scarce amastigotes and the definitive diagnosis was facilitated by immunohistochemical analysis. The clinical presentation of this lesion is unusual and underlies the importance of considering leishmaniasis in the differential diagnosis of oral lesions, especially in endemic areas. A literature review of the cases of mucosal leishmaniasis with exclusive primary lesions of the oral mucosa was also performed.     

IgA nephropathy in cystic fibrosis

The kidney does not usually present specific lesions in cystic fibrosis (CF), although in recent years renal involvement has been reported, particularly amyloidosis and immune complex glomerulonephritis. IgA nephropathy is rare. We report four cases of IgA nephropathy out of five renal biopsies performed in the last three years in patients with CF and renal involvement and discuss the possibility of a relationship between IgA nephropathy and CF.     

A coronary aneurysm complicated by acute myocardial infarction. A case report

Coronary artery aneurysm (CAA) is a relatively rare disease that may cause angina, myocardial infarction, sudden death due to thrombosis, embolisation, or rupture. This report describes the case of a man aged 65 years old who had an anterior myocardial infarction due to left anterior descending artery (LAD) aneurysm. We attempted early percutaneous transluminal coronary angioplasty (PTCA) for treatment of acute myocardial infarction, but were not successful. He was then treated with intracoronary streptokinase. Serial coronary angiographies showed recanalisation and aneurysm on the LAD. The patient was operated on with coronary bypass surgery, and treated with an oral anticoagulant, nitrate, and blocker. He was well after one year of follow-up.