Mucin Deposition Research Articles

Papular mucinosis (discrete papular lichen myxedematosus)

A 56-year-old woman presented with small, skin-colored papules on the trunk and thighs. Histopathologic findings were consistent with papular mucinosis. Laboratory evaluation did not show an associated paraproteinemia. Treatment with topical glucocorticoids was unsuccessful. Papular mucinosis, also known as localized lichen myxedematosus, has been categorized into 4 subtypes. The discrete papular form, as seen in our patient, is characterized by a few to multiple, 2-5-mm, skin-colored, firm, waxy, dome-shaped papules on the trunk and proximal aspects of the extremities. By definition there is no associated paraproteinemia, but this form may be associated with human immunodeficiency virus infection. Focal or diffuse mucinous deposits are seen on histopathologic examination. The usual clinical course is slow cutaneous progression without spontaneous resolution. Treatment is empiric and is usually unsuccessful.

Nephrogenic systemic fibrosis with septal panniculitis mimicking erythema nodosum

Nephrogenic systemic fibrosis/nephrogenic fibrosing dermopathy is an idiopathic fibrosing disorder recently described in patients with renal disease. The typical histology in nephrogenic systemic fibrosis consists of haphazardly arranged dermal collagen bundles with clefting, collagenous change which extends into the subcutaneous septa, mucin deposition, fibroblast proliferation, and increased elastic fibers with minimal inflammation. We present a 65-year-old female with classic clinical features whose biopsy demonstrated unique histologic features of septal pannicilitis with lymphocytic aggregates and Miescher's radial granulomas mimicking erythema nodosum.

Serial Serum Cytokine Measurement in a Patient with Systemic Scleromyxedema.

Systemic scleromyxedema (SSME) is a generalized and rare variant of lichen myxedematosus and is characterized by cutaneous papular mucinous deposits and extracutaneous manifestations. In 80% of the cases, SSME is associated with a monoclonal gammopathy and in approximately 10% with multiple myeloma. Pulmonary, gastrointestinal, rheumatologic and severe neurologic complications have been described. Clonal plasma cells are thought to stimulate excessive fibroblast proliferation resulting in the clinical presentation of this disorder, but little is known about the cytokine-mediated crosstalk between the monoclonal plasma cells and fibroblasts. For that purpose, we have sequentially measured the serum levels of the cytokines VEGF, FGF-b, TGF-b1 and IL-6 in a 39-year old male patient diagnosed with SSME and an IgG kappa paraprotein. The patient presented with repeated generalized epileptic insults, cognitive impairment, and progressively developed thickened skin furrows at the level of the glabella. The diagnosis of SSME was histologically proven. A transient neurologic improvement was seen after plasmapheresis and dexamethason pulse therapy and stem cells were subsequently mobilized with the CAD regimen (cyclophosphamide, adriamycin, dexamethason) and readministered after high dose melphalan. The neutropenic phase was complicated by sepsis and progressive neurological deterioration, after which the decision was taken to start with thalidomide at the dose of 200 mg/d. The patient gradually improved and one year later his cognitive function has normalized and the skin lesions have disappeared. A small M-spike remains visible on serum electrophoresis. Levels of VEGF, FGF-b, TGF-b1 and IL-6 were quantified by ELISA on platelet-poor serum and were measured at diagnosis and at six and twelve months after transplantation. Compared to the high pre-treatment levels of all four cytokines, a decrease was observed during the months after transplantation and at six months.Table 1:serum levels of VEGF, b-FGF, TGF-b1 and IL-6 in a patient with SSMEbefore ASCT6 months after ASCTone year after ASCTVEGF (pg/ml)227,87 (+/−33,3)110,81 (+/−24,8)189,61 (+/−13,5)b-FGF (ng/ml)17,77 (+/−0,32)1,93 (+/−0,29)1,64 (+/−0,37)TGF-b1 (ng/ml)37,94 (+/−1,21)20,45 (+/−0,85)18,95 (+/−0,49)IL-6 (pg/ml)92,82 (+/−3,2)33,2 (+/−5,3)32,0 (+/−4,5)value = mean of 5 serum samples +/− SDOne year after administration of high-dose melphalan and autologous hematopoietic stem cell transplantation (ASCT), the serum levels of FGF-b, TGF-b1 and IL-6 remain low. Remarkably, since the dose of thalidomide has been tapered because of persistent ulnar neuropathy, the serum concentration of VEGF is increasing but not reaching the pre-transplant levels. We conclude from this report that serum levels of VEGF, FGF-b, TGF-b and IL-6 follow the clinical evolution in this patient with SSME, suggesting a role for these cytokines in the pathogenesis of SSME.

Contact Lens Strategies for the Patient with Dry Eye

Dry eye is the most common reason for contact lens (CL) discontinuation, and the patient with pre-existing dry eye presents particular challenges to the CL fitter. Poor tear film quality/stability, oxygen deprivation, lens deposits, and adverse reactions to CL solutions all contribute to dry eye, and lid disease, allergies, environmental factors, and medications can further hamper successful CL wear by the patient with dry eye. Health and comfort of the ocular surface is affected by the water content, ionicity, oxygen permeability, and modulus of elasticity of the lens, as well as by surface characteristics, such as protein, lipid, and mucin deposition; protein adsorption; and wettability. The choice of CL cleaning solutions with regard to action, cytotoxicity, and biocompatibility are as important as the choice of the CL itself. With appropriate management of the lid, meibomian gland, and ocular surface conditions that produce dry eye, careful selection of lenses and solutions, and vigilant follow-up, successful CL wear should be achievable for the dry eye patient.

Micosis fungoide folicular. Estudio de cuatro casos

Folliculotropic mycosis fungoides is a variant of mycosis fungoides characterized by the presence of folliculotropic infiltrates, often with sparing of the epidermis, and preferential involvement of the head and neck. We report our experience with four cases of folliculotropic mycosis fungoides followed in our department in the last years. There are four patients (three men and one woman) aged 45 to 68 years. Clinically the lesions presented as cysts, comedones, follicular papules and plaques with follicular plugging. The histopathological study showed a peri and intrafollicular infiltrate with partial or total sparing of the epidermis. This infiltrate was mainly composed of atypical lymphocytes. Some cystic formations were also observed. Three cases showed mucin deposits and one showed syringotropism. The immunohistochemical analysis was positive for CD3, CD5 and CD4. All patients received different treatments based on the stage of their disease. One of them died of septic shock and the rest showed partial responses and frequent relapses.

Gadolinium and nephrogenic systemic fibrosis

Nephrogenic systemic fibrosis (NSF) is characterized by red skin areas or plaques that over several weeks successively develop to painful thickened skin with a 'woody' texture, resembling 'peau d'orange'. Starting at the extremities, it may spread to the trunk, and may progressively inhibit flexion of adjacent joints. In skin biopsies of affected areas, thickened collagen bundles, mucin deposition, and proliferation of fibroblasts and elastic fibers are seen. Originally described as nephrogenic fibrosing dermopathy (NFD) because of its primarily cutaneous manifestation, this entity was then named NSF because of systemic involvement of other organs like lungs, myocardium, or striated muscles. The pathogenesis of the disease is not yet known, but our observations suggest a close association between development of NSF and exposure to gadolinium-containing contrast agents, thereafter confirmed by other authors. Recently, gadolinium was demonstrated to be detectable in skin tissue samples of affected patients. In this short review, the development of NSF and its sequential association with the exposure to gadolinium-containing contrast agents is presented. The mechanisms likely to cause NFD/NSF are discussed.

Multiple eruptive myxoid dermatofibromas: report of first case and review of literature

Multiple eruptive dermatofibromas are a rare presentation of dermatofibroma which are frequently associated with underlying diseases such as human immunodeficiency virus infection or lupus erythematosus. Eruptive dermatofibromas generally present a characteristic histology with a poorly circumscribed lesion showing hyperplasia of the epidermis, prominent bundles of collagen and a diffuse proliferation of fibrocytes. We report an unusual case of multiple eruptive dermatofibromas showing massive depositions of mucin within the dermis. A 20-year-old woman presented with nearly 100 red to yellowish papules and nodules distributed symmetrically all over the integument which developed over a period of 9 years. Comprehensive clinical and laboratory diagnostics showed no signs indicating any underlying disease. To our knowledge this is the first report of multiple eruptive myxoid dermatofibromas. We consider this case to be a unique presentation of multiple eruptive dermatofibroma showing massive deposition of mucin.

Lupus‐like reaction to interferon at the injection site: report of five cases

Interferon therapy at the injection sites has been related to different cutaneous lesions including erythema and induration as the most frequent ones. While the glycoprotein induces fatigue, fever and is even believed to precipitate autoimmune disorders such as type I diabetes, thyroid disease and systemic lupus erythematosus, a lupus erythematosus-like histologic reaction at the interferon injection site has never been reported. To our knowledge, a microscopic self-resolving lesion mimicking lupus erythematosus at the injection site of interferon has not been described. We report five cases of cutaneous lesions at the inoculation site of interferon with a histopathologic lupus erythematosus-like pattern. Three of them were receiving interferon alfa therapy because of a malignant melanoma and the other two patients were receiving interferon beta-1b for multiple sclerosis. Biopsy specimens taken from different lesions showed similar microscopic findings consisting of dermal mucin deposits and dense lymphocytic infiltrates along hair follicles with hydropic degeneration of follicular basal layer. Multiple cutaneous lesions related to interferon at the injection site have been reported, but none of them with a histologic lupus-like presentation. In this study we describe five cases in which interferon therapy has induced a resolutive cutaneous lesion mimicking lupus erythematous. This peculiar microscopic pattern has been previously described once before, but interpreted as cutaneous mucinosis.

Signet-Ring Cell Adenocarcinoma of Sinonasal Tract: An Immunohistochemical Study of the Mucins Profile

Adenocarcinomas of the sinonasal tract are classified into 4 categories: salivary-type, intestinal-type, nonintestinal-type, and metastatic. Signet-ring cell carcinoma is the rarest form of intestinal-type adenocarcinoma. Only isolated cases have been reported in the literature. To evaluate clinical attributes, morphology, and immunohistochemistry in signet-ring cell carcinoma of the sinonasal tract. Seventy-three cases of primary sinonasal adenocarcinomas were retrieved from the files. Only 5 signet-ring cell adenocarcinomas (tumors composed of more than 90% signet-ring cells) were identified. In all cases, clinical data and histologic slides were available and were reviewed. Consecutive tissue sections were immunostained with monoclonal antibodies against MUC2, MUC5AC, MUC5B, MUC6, p53 protein, and MIB-1. Four of our 5 patients were woodworkers. They were treated by surgical excision and radiotherapy. Patient follow-up ranged from 11 to 84 months. Three patients presented an unfavorable evolution and died of metastatic spread. Microscopically, the tumors produced abundant mucin deposits, which accumulated in large extracellular pools. Tumor cells were predominantly signet-ring cells floating in the pools of mucin. The mucins profile was MUC2+, MUC5AC+, MUC5B+, and MUC6-. Eighty percent of cells were immunostained by p53 protein antibody and 60% cells with MIB-1 antibody. The mucin profile is similar to the profile described in digestive tract adenocarcinoma. It is not useful to differentiate between metastatic adenocarcinoma and primary intestinal-type sinonasal adenocarcinoma. Clinical data and immunochemistry with p53 protein and MIB-1 confirm that sinonasal signet-ring cell carcinoma is a high-grade and aggressive tumor.

Deutliche Besserung eines Skleromyxödem Arndt-Gottron durch hoch dosierte intravenöse Immunglobuline

Scleromyxedema is a rare chronic skin disorder of unknown etiology, often accompanied by monoclonal gammopathies. Clinically the disease is characterized by generalized thickening and stiffening of the skin due to dermal mucin deposition. We report on a 56-year-old women with scleromyxedema, whose skin findings markedly improved following high-dose intravenous immunoglobulin therapy (Sandoglobulin((R)), 2 g/KG). The pronounced clinical benefit was documented by increased flexibility of the fingers, reduction of skin induration, and a decrease in number and size of mucinous papules. All previous therapeutic approaches were ineffective. High-dose intravenous immunoglobulin appears to be a promising treatment option for patients with scleromyxedema. Clinical studies are desirable, but difficult to perform in such a rare disease. Long-term follow-up on individual patients so treated is desirable.

Nephrogenic fibrosing dermopathy/nephrogenic systemic fibrosis: a case series of nine patients and review of the literature

Nephrogenic fibrosing dermopathy/nephrogenic systemic fibrosis (NFD/NSF) is a fibrosing cutaneous disorder recently recognized to have systemic manifestations. The disease is characterized clinically by an acute onset of hardening and thickening of the skin of the extremities and trunk, often resulting in flexion contractures, and histologically by an increase in spindle-shaped cells, collagen, and sometimes mucin deposition in the dermis. The only common exposure amongst patients is acute or chronic renal failure. The pathophysiology of the disease remains to be elucidated, and there is currently no consistently effective treatment for this unremitting disease. We report a case series of nine patients seen at the University of Pennsylvania between 1998 and mid-2004. The clinical, laboratory, and pathologic data of these patients are reviewed. All patients had renal disease, received peritoneal or hemodialysis, and five had received at least one renal transplant. All patients had characteristic fibrotic cutaneous lesions involving the trunk, extremities, or both, and eight of the nine patients had scleral plaques. There were no other common findings amongst the histories, medications, or laboratory results of the patients. Our report confirms the clinical and histologic characteristics of NFD that have been described previously, and raises new issues regarding the possible subtypes. A review of the current literature stresses that further basic science and translational studies are necessary to understand the disease mechanism and to propose effective therapy, and emphasizes the importance of recognizing the systemic effects of NFD.

Scleroderma-like acute renal crisis in a patient with scleromyxedema

Scleromyxedema is a rare connective tissue disorder, characterized by generalized skin induration with waxy yellow–red papules. Histological features include cutaneous mucin deposition in the superficial dermis, specifically hyaluronic acid, and fibroblast proliferation. Most patients with this disorder present with monoclonal paraproteinaemia, mainly IgG lambda. Oesophageal abnormalities with dysphagia, muscle weakness, dyspnoea with abnormal diffusing capacity, restrictive lung disease and cor pulmonale, pericardial effusions, central nervous system abnormalities and neuropathies, arthralgias and Raynaud’s phenomenon have been observed, and may be associated with significant morbidity and mortality [1–3]. In postmortem studies, interstitial and vascular mucin deposition in inner organs has been found inconsistently [2,4]. Renal disease is rare in patients with scleromyxedema. In this article, we report a middle-aged female with scleromyxedema and a scleroderma-like acute renal crisis.

Pathology Quiz Case 2

A 35-YEAR-OLD WOMAN PRESENTED WITH AN 8-monthhistoryofprogressiverighteyeproptosis without nasal congestion, nasal discharge, or epistaxis. For several weeks, she had experienced horizontal diplopia along with intermittent pain in the right eye. Her medical and social histories were otherwise unremarkable. Nasal endoscopy revealed prominence of the right agger nasi, with a normal-appearing infundibulum and bulla ethmoidalis. A computed tomographic scan of the paranasal sinus showed a homogeneous soft tissue mass obliterating the frontal sinus and extending into the right orbit, with bony erosion (Figure1). The mass was pushing the right globe laterally without extension into the anterior cranial fossa or fovea ethmoidalis. The mass demonstrated high signal intensity on T2-weighted magnetic resonance images (MRIs) and low signal intensity on T1-weighted MRIs, with rim enhancement after contrast injection (Figure 2). The presumptive diagnosis of a mucocele was made, and endonasal endoscopy revealed a solid, soft tissue mass. A right eyebrow incision was used to reexplore and then completely resect the mass. Intraoperatively, it was noted that the mass was not encapsulated and that the bony wall between the frontal sinus and orbit had been eroded. Grossly, the mass was soft, grayish white, and gelatinous, similar in appearance to an edematous nasal polyp. Hematoxylineosin–stained sections revealed sparse, spindle and stellate cells surrounded by a loose, pale-pink myxoid stroma (Figure 3 and Figure 4). There were no mitotic or pleomorphic cells. Mucicarmine stains demonstrated prominent mucin deposition in the tumor stroma. Moreover, immunostaining of the specimen was positive for vimentin and negative for desmin, S100 protein, CD34, keratin, and cytokeratins (AE1/AE3). What is your diagnosis?

An ovarian tumour with a potential appendiceal origin

A 14-year-old girl underwent left oopherectomy for a multicystic ovarian mass. Histology revealed this to be an intestinal type mucinous borderline tumour (IMBT). In view of this, a semi-urgent laparoscopic appendicectomy was carried out. The appendix was histologically normal. IMBT of the ovary is a mucinous tumour with atypical proliferation of the goblet cell containing epithelium. It is known to occur simultaneously with tumours of the appendix. Paediatric surgeons need to be aware of this rare tumour and when operating on any ovarian pathology should always inspect the peritoneal cavity for mucinous deposits and examine the appendix.

Thyroid Adenoma with Extensive Extracellular Mucin Deposition: Report of a Case

A thyroid tumor with extensive extracellular mucin deposition is extremely rare. We herein describe a case of a thyroid adenoma with prominent myxoid stroma. A 63-year-old man presented with a mass in his right anterior neck. Radiological examinations showed this mass to be a thyroid tumor with a cystic component. The histopathological findings showed the stroma of this tumor to consist of abundant myxoid materials which stained gray-bluish for hematoxylin-eosin. The myxoid material was positive for alcian blue, whereas periodic acid-Schiff did not stain this material. No intracytoplasmic mucin was identified. In an immunohistochemical study, the tumor cells were negative for cytokeratin 19. Furthermore, positive staining was observed for thyroglobulin while a negative finding was seen for calcitonin.

Solitary Morphea Profunda with a Prominent Mucinous Deposit

Pediatric DermatologyVolume 24, Issue 2 p. 201-202 Solitary Morphea Profunda with a Prominent Mucinous Deposit AKIHIRO FUJISAWA M.D., AKIHIRO FUJISAWA M.D. Kyoto, JapanSearch for more papers by this authorKAZUMASA MORITA M.D., KAZUMASA MORITA M.D. Kyoto, JapanSearch for more papers by this authorM. MASAO YONEZAWA M.D., M. MASAO YONEZAWA M.D. Kyoto, JapanSearch for more papers by this authorYOSHIKI MIYACHI M.D., YOSHIKI MIYACHI M.D. Kyoto, JapanSearch for more papers by this authorATSUSHI UTANI M.D., ATSUSHI UTANI M.D. Kyoto, JapanSearch for more papers by this author AKIHIRO FUJISAWA M.D., AKIHIRO FUJISAWA M.D. Kyoto, JapanSearch for more papers by this authorKAZUMASA MORITA M.D., KAZUMASA MORITA M.D. Kyoto, JapanSearch for more papers by this authorM. MASAO YONEZAWA M.D., M. MASAO YONEZAWA M.D. Kyoto, JapanSearch for more papers by this authorYOSHIKI MIYACHI M.D., YOSHIKI MIYACHI M.D. Kyoto, JapanSearch for more papers by this authorATSUSHI UTANI M.D., ATSUSHI UTANI M.D. Kyoto, JapanSearch for more papers by this author First published: 25 April 2007 https://doi.org/10.1111/j.1525-1470.2007.00380.xCitations: 2Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume24, Issue2March/April 2007Pages 201-202 RelatedInformation

Nephrogenic Systemic Fibrosis/Nephrogenic Fibrosing Dermopathy: Clinical Aspects

Nephrogenic systemic fibrosis, previously known as nephrogenic fibrosing dermopathy, is a novel fibrosing disorder characterized by prominent cutaneous and systemic fibrosis in patients with renal failure. Although initially descriptions of this disorder was described to be purely cutaneous, numerous subsequent reports have shown remarkable systemic involvement with fibrosis of numerous internal organs, including striated muscles, myocardium, microvasculature, lungs, and others, accompanied by elevation of systemic inflammation markers, such as erythrocyte sedimentation rate and C-reactive protein. The cutaneous manifestations are characterized by erythematous to browny skin induration with a peau d'orange appearance, plaques, nodules, and papules. Histopathologically, there is dermal and subdermal thickening with abundant collagen fibers and mucin deposits and a striking increase in the number of spindle-shaped fibroblastic cells. The disorder is clinically distinct from scleromyxedema, systemic sclerosis, and other cutaneous fibrosing syndromes. The cause is unknown, and currently there is no uniformly effective treatment.

Nephrogenic systemic fibrosis/nephrogenic fibrosing dermopathy: A decade-old disease

Nephrogenic systemic fibrosis, also known as nephrogenic fibrosing dermopathy, is a rare fibrosing disorder of skin and internal organs that occurs in the context of renal insufficiency, particularly in those who have undergone dialysis. It was first described in 1997 in the United States. The first non Western series was reported from Kolkata, India in 2005 the etiology is unknown. High-dose erythropoietin and use of gadolinium-containing contrast media are currently acknowledged to be important risk factors. The pathogenesis is multifactorial. The current hypothesis supports the role of circulating fibroblast precursors (fibrocytes) and the elaboration of circulating fibrogenic factors ( e.g., transforming growth factor beta 1). The clinical characteristics resemble scleromyxedema with a typical distribution pattern of its own. The histopathological hallmarks are spindle-shaped cells in the background of dermal fibrosis and deposition of collagen and mucin. Dual immunolabelling with CD34 and procollagen is diagnostic. There are no standard, specific and universally satisfactory treatments. The natural history is progressive with systemic manifestations conferring a poor outcome.

Folliculotropic Mycosis Fungoides. Study of Four Cases

Folliculotropic mycosis fungoides is a variant of mycosis fungoides characterized by the presence of folliculotropic infiltrates, often with sparing of the epidermis, and preferential involvement of the head and neck. We report our experience with 4 cases of folliculotropic mycosis fungoides followed in our department in the last years. There are four patients (3 men and 1 woman) aged 45 to 68 years. Clinically the lesions presented as cysts, comedones, follicular papules and plaques with follicular plugging. The histopathological study showed a peri and intrafollicular infiltrate with partial or total sparing of the epidermis. This infiltrate was mainly composed of atypical lymphocytes. Some cystic formations were also observed. Three cases showed mucin deposits and 1 showed syringotropism. The immunohistochemical analysis was positive for CD3, CD5 and CD4. All patients received different treatments based on the stage of their disease. One of them died of septic shock and the rest showed partial responses and frequent relapses.

Cutaneous mucinosis associated with dermatomyositis and nephrogenic fibrosing dermopathy: fibroblast hyaluronan synthesis and the effect of patient serum

Dermal mucin is an amorphous gelatinous substance composed primarily of hyaluronan (HA) and sulphated glycosaminoglycans (GAGs). In primary cutaneous mucinosis, accumulation of mucin is a characteristic feature of lichen myxoedematosus, scleromyxoedema and reticular erythematous mucinosis. Secondary mucinoses are disorders where mucin deposition is an additional finding, and deposition is associated with lupus erythematosus, dermatomyositis, scleroderma and granuloma annulare. The underlying cause of the abnormal mucin deposition is unknown. An increasing number of cases of a fibromucinous scleromyxoedema-like disorder associated with renal dysfunction, recently termed nephrogenic fibrosing dermopathy (NFD), is being reported. To examine the synthesis of sulphated GAGs and HA by fibroblasts derived from uninvolved and involved skin of a patient with dermatomyositis and two patients with NFD, and the effect of patient serum. GAGs were quantified by a radiometric assay and HA was determined by an enzyme-linked HA-binding protein assay. We found that fibroblasts derived from active lesions of NFD synthesize elevated levels of GAGs, and in particular HA, compared with normal controls, while serum from the patient with dermatomyositis and the two patients with NFD stimulates GAG synthesis, including HA synthesis, by both control and patient fibroblasts. Fibroblasts from patients with active NFD are either activated to synthesize elevated levels of HA or contain another cell type, possibly derived from circulating fibrocytes. In both disorders, there is additionally a serum-derived factor that stimulates production of sulphated GAGs and HA by fibroblasts.