Variant Of Scleroderma Research Articles

Generalized morphea: A rare variant of localized scleroderma

Morphea, a rare type of localized scleroderma, is a fibrosing disorder of skin and subcutaneous tissue. It has a bimodal presentation and is common in both children and adults. The patient may show positivity for antinuclear antibodies, rheumatoid factor, or antibodies to ssDNA. The disease lesions rarely undergo spontaneous resolution. The below given images depict the diverse disease presentations observed in a 35-year-old female affected with generalized morphea. The patient was having a history of skin thickening and discoloration over her forearms since 3 years. Physical examination revealed the occurrence of new lesions on the arms, abdominal surface, and legs. The patient fulfilled the Padua preliminary classification criteria for generalized morphea (≥4 large plaques and each >3 cm) on at least 2 of 7 anatomic areas: head/neck, right upper extremity, left upper extremity, right lower extremity, left lower extremity, anterior trunk, posterior trunk. 1 She had no active arthritis or myositis, though she complained of multiple joint pains. Her ANA was positive (1.9) and skin biopsy showed thick collagen deposition in dermis, flattened epidermis, and no inflammatory infiltrates.

PReS-FINAL-2127: Sclerodermatous graft versus host disease

Cutaneous graft-versus-host-disease (GVHD) is a common manifestation of GVHD post allogeneic haematopoietic stem cell transplantation (HSCT). It is characterised into lichenoid and scleroderma variants. Sclerodermatous GVHD is thought to be rare, with few reports in the paediatric population.

Nodular/Keloidal Scleroderma: Acquired Collagenous Nodules in Systemic Sclerosis

To the Editor: Systemic sclerosis (SSc) is characterized by diffuse fibrosis of the skin and internal organs, whereas localized scleroderma is defined by discrete areas of cutaneous fibrosis without systemic involvement. There are also reports of patients developing exophytic collagenous nodules, which are considered to be a rare variant of localized scleroderma. As in the plaques of localized scleroderma, these collagenous nodules can occur as an isolated skin disease or they can appear in the setting of SSc1,2. Histologically, these nodules can resemble scleroderma: thickened sclerotic collagen bundles without increased spindled fibroblasts intercalating between the collagen, and are therefore termed nodular scleroderma3. In contrast, there have also been reports of patients with scleroderma who develop nodules that histologically have the features of keloid: hypocellular zones of thick glassy hyalinized collagen bundles, which have been referred to as keloidal scleroderma4. We describe 2 cases of SSc, 1 diffuse (dcSSc) and 1 limited (lcSSc), with dramatic eruptive collagenous nodules appearing at different stages of the disease course. A 70-year-old woman presented in June 2003 because of development of Raynaud’s phenomenon and fibrotic skin thickening involving her hands that rapidly progressed to her face, chest, abdomen, and upper and lower extremities [modified Rodnan skin score (mRSS) was 33 (on … Address correspondence to Dr. F.M. Wigley, Division of Rheumatology, Johns Hopkins University, 5200 Eastern Avenue, Suite 4100, Mason F. Lord Building, Center Tower, Baltimore, MD 21224, USA. E-mail: fwig{at}jhmi.edu

Unilateral Generalized Morphea: A Case and Literature Review

Localized scleroderma is a connective tissue disorder generally involving de entire dermis and usually limited to the subcutaneous tissue; however, it may progress to large indurated plaques, growth retardation, muscle atrophy, and even to flexion deformities or poorly healing ulcers. Unilateral generalized morphea is an extremely rare variant of localized scleroderma which has seldom been reported in the literature. We report the case of a girl who developed unilateral generalized morphea on the right side of the body.

Idiopathic acquired progressive left facial hemiatrophy (Parry-Romberg syndrome) in a 21-year-old man in semi-urban, south-west Nigeria

Idiopathic progressive hemifacial atrophy, or Parry-Romberg syndrome, is a rare entity, seldom described in medical texts. Though first described in 1825, as yet there are no clear-cut diagnostic criteria. It is of interest mainly because of the numerous features with which it may be associated, which are largely in the central nervous system, and, more importantly, because it can easily be confused with localised scleroderma en coup de sabre. Some classify it as one of the trophoneuroses; others believe it is a variant of localised scleroderma. Most of the sufferers present because of the attendant cosmetic loss from the facial disfigurement. Treatment is multifactorial, and includes facial reconstructive surgery and immunosuppressants. Here we present the case of a 21-year-old Nigerian with idiopathic progressive left hemifacial atrophy. To the best of our knowledge, it is probably the first case from Nigeria to be reported in literature.

Linear Morphea-Induced Atrophy Treated with Hyaluronic Acid Filler Injections

Linear morphea in an en coup de sabre pattern is a variant of localized scleroderma that develops on the frontal or frontoparietal scalp. Approximately two-thirds of cases occur before the age of 18. The etiology is unknown, but the disease is thought to be most likely autoimmune in nature. Between 50% and 75% of these patients have been found to have a positive serum antinuclear antibody (ANA), although ANA positivity has not been noted to correlate with disease activity. In en coup de sabre morphea, trauma has also been cited as a possible trigger. Although lesions may be limited to the skin, en coup de sabre morphea is notorious for extracutaneous involvement, and lesions may extend deep into underlying tissues and may be associated with neurologic, ophthalmologic, and oral abnormalities.

Morfea generalizada unilateral: un caso y revisión de la literatura

Localized scleroderma is a connective tissue disorder generally involving de entire dermis and usually limited to the subcutaneous tissue; however, it may progress to large indurated plaques, growth retardation, muscle atrophy, and even to flexion deformities or poorly healing ulcers. Unilateral generalized morphea is an extremely rare variant of localized scleroderma which has seldom been reported in the literature. We report the case of a girl who developed unilateral generalized morphea on the right side of the body.

ANCA-associated vasculitis in scleroderma: a case series of fourteen patients

Antimyeloperoxidase (MPO), perinuclear antineutrophil cytoplasmic antibodies (pANCA), and/or clinically evident vasculitis in patients with scleroderma have been reported only rarely. The clinical significance and prognosis of ANCA-associated vasculitis in systemic sclerosis is uncertain. To report a case and identify the clinical characteristics of scleroderma patients with ANCA-associated vasculitis. Patients with both vasculitis and scleroderma occurring between 1976 to 2006 were identified using an electronic diagnostic index. These diagnoses were confirmed by retrospective review of complete medical records. Clinical features and outcomes recorded included age at vasculitis diagnosis, connective tissue disease (CTD) features, type of scleroderma (limited or diffuse); ANCA serology, vasculitic organ system manifestations; and death. Fourteen cases of scleroderma patients with ANCA-associated and/or small vessel vasculitis were identified. The majority (71%) were female, with mean age at vasculitis diagnosis 53 years. Seven patients (50%) had overlap CTD features, and the majority (79%) had limited variant of scleroderma. All of the 10 patients tested were MPO and pANCA positive. Seven patients (50%) had glomerulonephritis, 11 (79%) pulmonary involvement including 3 with pulmonary-renal syndrome, 6 skin purpura, and 5 mononeuritis multiplex and/or peripheral neuropathy. Six patients (43%) died during followup to 2008. The presence of pANCA-associated small vessel vasculitis is a rarely reported complication of scleroderma. It occurs most commonly in women with limited scleroderma and most commonly includes pulmonary and/or renal involvement, including severe organ-threatening manifestations and death. Further studies are needed to clarify the role and clinical impact of ANCA in scleroderma patients with and without vasculitis.

Eosinophilic fascitis: a report of two cases treated with ultraviolet A1 phototherapy

Eosinophilic fascitis (EF) (synonyms: Shulman's syndrome, diffuse fascitis with eosinophilia) is a disease characterized by a complex set of symptoms with scleroderma-like skin lesions, the absence of Raynaud's phenomenon and other non-mandatory symptoms including eosinophilia, elevated erythrocyte sedimentation rate, hypergammaglobulinemia and high levels of circulating immune complexes. EF is probably not a separate disease entity, but an acute variant of localized scleroderma. This rare disease of unknown etiology is usually seen in middle-aged adults. Sclerodermiform indurations without Raynaud's symptoms develop rapidly usually on the extremities and more rarely on the trunk or the face. The skin becomes hard, tightly bound to the underlying structures, so that contractures can develop in as little as a few weeks. The course of the disease is usually chronic but spontaneous remission is possible. Standard therapy includes high doses of corticosteroids, immunosuppressive drugs such as methotrexate, cyclosporin A, cyclophosphamide or azathioprine and others such as psoralen and ultraviolet A radiation.

Unilateral Eosinophilic Fasciitis

Symmetric skin thickening of the limbs with deep fascial inflammation is the hallmark of eosinophilic fasciitis. We describe a woman who presented with unilateral progressive skin thickening. Examination of a full thickness skin biopsy revealed an inflammatory process and fascial changes consistent with eosinophilic fasciitis. In contrast to other scleroderma mimics, eosinophilic fasciitis generally responds rapidly to glucocorticoid therapy. It is possible that unilateral eosinophilic fasciitis is under-recognized and can easily be misdiagnosed as another scleroderma variant if a full thickness biopsy is not reviewed by a dermatopathologist. Recognition of this subtype of eosinophilic fasciitis is important given the profound differences in prognosis of eosinophilic fasciitis and other scleroderma variants.

Intracranial Aneurysms in Patients With CREST Syndrome -Two Case Reports-

CREST syndrome is a variant of scleroderma characterized by calcinosis, Raynaud's phenomenon, esophageal hypomotility, sclerodactyly, and telangiectasia, and is a collagen vascular disease characterized by inflammation and fibrosis of multiple organs/tissues. Neurological and cerebrovascular abnormalities are uncommon in CREST syndrome. Here, we report two patients with CREST syndrome harboring intracranial aneurysms. A 53-year-old woman with a 6-month history of CREST syndrome had multiple intracranial aneurysms that arose from the right middle cerebral artery, the left middle cerebral artery, the choroidal segment of the left internal carotid artery, and the left anterior cerebral artery. A 64-year-old woman with a 2-year history of CREST syndrome had a fusiform aneurysm located on the insular segment of the left middle cerebral artery. These patients were treated surgically and good outcome was achieved in both cases. The pathogenesis of cerebral aneurysms associated with collagen diseases, including CREST syndrome, remains unclear. Early treatment of CREST syndrome and other collagen diseases may prevent arteritis from progressing to affect the intracranial arteries and thus reduce the occurrence of aneurysms. The prognosis for patients with collagen diseases after rupture of cerebral aneurysm seems to be poor because the multiplicity, atypical morphology, and atypical location of their aneurysms make treatment difficult. Thus, early detection and treatment are important to improve the prognosis.

Hypodermite à plasmocytes, variante histologique de la morphée profonde

Plasma cell panniculitis is a rare histopathological variant of morphea profunda. Its occurrence in two siblings has been reported once. We report a new case in which a brother and a sister with a family history of consanguinity presented plasma cell panniculitis of long duration. A man and his sister, 38 and 28 years old respectively, presented thick hyperpigmented indurations of the trunk and thighs since puberty. Previous investigations did not lead to any definitive diagnosis. Deep cutaneous specimens taken from both patients exhibited indistinct histological features of plasma cell panniculitis. Morphea profunda is a deep-localized variant of scleroderma. The presence of predominant plasma cell infiltrate suggests a rare type of morphea profunda named plasma cell panniculitis. Subcutaneous plasma cell infiltrate has been described in many diseases such as lupus profundus and lymphoplasmocytic panniculitis of Lyme disease. The family history of consanguinity, similar age of onset and identical clinicopathological presentation suggest a genetic role in this disorder. This is the second report of plasma cell panniculitis in two siblings with a history of consanguinity.

Nodular Scleroderma: A Report of 2 Cases

Nodular scleroderma, also known as keloidal scleroderma, is a rare form of scleroderma that may occur with either systemic sclerosis or localized scleroderma. Clinically, this disorder is characterized by keloidal nodules that form in sclerodermatous areas. These nodules may histologically show the presence of keloidal collagen. Because of the rarity of this condition, clinicians may not be familiar with the clinical and histologic features relevant to this scleroderma variant. In this report, we describe 2 cases of nodular scleroderma.

Response of Dystrophic Calcification to Intravenous Immunoglobulin

A 56-year-old woman with an 8-year history of CREST syndrome, a variant of scleroderma, presented with increasing calcium deposits that were causing inflammation and swelling of the index finger of her left hand (Figure 1), as well as Raynaud phenomenon, telangiectasia, and mild sclerosis of her fingers. She had intense pain and extreme morbidity and was severely handicapped in her office job. A barium swallow test revealed moderate esophageal dysmotility, and a computed tomographic scan demonstrated mild pulmonary fibrosis. Spirometry revealed normal values, particularly for carbon monoxide diffusing capacity and inspiratory vital capacity. There was no evidence of pulmonary hypertension, cardiac or renal manifestations, or systemic metabolic abnormalities in calcium regulation. Serologic tests were positive for antinuclear antibodies and anti–Scl-70 antibodies. Long-term treatment with D-penicillamine (30 weeks), warfarin sodium (13 weeks), and extracorporeal shock wave lithotripsy did not result in any improvement in the cutaneous calcifications or inflammation. The plastic surgeons refused to consider a surgical approach because of the risk of protracted and complicated wound healing.

Disabling Pansclerotic Morphea of Childhood Poses a High Risk of Chronic Ulceration of the Skin and Squamous Cell Carcinoma

Disabling pansclerotic morphea of childhood (DPMC) is a rare and severe variant of scleroderma. This report presents 3 cases that presented to the authors and studies 25 patients from the literature (English language only) for the presence of chronic nonhealing ulcers of skin and skin cancer. The authors identified a total of 30 patients (9 male and 21 female) aged between 1 and 37 years at time of presentation. All cases were less than 14 years old when the disease started. The majority of patients had an aggressive course with deep sclerotic lesions leading to joint contractures and immobility. Five patients suffered from chronic nonhealing leg ulcers (17%), but ulcers were present on other parts of the body (upper limbs, trunk, head) as well (n = 6). Four patients died because of complications of the disease such as sepsis or gangrene. Two patients developed a squamous cell carcinoma at the age of 16 years and 19 years, respectively (6.7%). The available treatment of DMPC-associated ulcers is unsatisfying. Only temporary improvements have been seen in a minority of patients. We report on marked improvement of chronic leg ulcers by a combination of sildenafil 3 x 20 mg/day and repeated application of a porcine small intestinal submucosal acellular matrix.

Arthropathy in Patients with CREST Variant Scleroderma

Background: Systemic sclerosis is a disease characterized by sclerosis of the skin, internal organs and vasculopathy. Articular manifestations are common, and include arthralgias, arthritis, and morning stiffness, which in some cases can be confused with rheumatoid arthritis (RA). Patients develop functional impairment and thickening of the skin including around the joints, with inflammation and fibrosis of tendon sheaths. However, articular inflammation is rare clinically, as is the development of articular erosions. Objective: To define the presence and characteristics of arthropathy in patients with scleroderma and distinguish it from RA. Methods: Case series of 106 Colombian patients with scleroderma evaluated between January 1998 and December 2004, of whom 5 had significant articular involvement and are the subject of this report. Results: All patients had the CREST variant of scleroderma. Their average age was 48.6 years (range 35-56). All had arthropathy affecting mainly the hands and feet. In the majority of cases the clinical picture resembled that of RA, with inflammation and subluxation of the metacarpophalangeal joints, and involvement of the feet with subluxation of the toes. Radiographs revealed joint space narrowing, subluxation, juxtaarticular osteopenia, carpal ankylosis and erosions. Rheumatoid factor was negative and antinuclear antibody (ANA) was positive with anticentromere antibodies in all patients. Conclusions: We conclude that there is a unique arthropathy of scleroderma which is due to inflammation and mechanical factors related to skin and periarticular involvement from the underlying disease. It is not due to coexisting RA. All of our cases had CREST variant scleroderma with erosive arthritis, negative rheumatoid factor, and positive ANA with centromere antibody. None fulfilled classification criteria for RA. This is a distinct subtype of scleroderma. Patients should be identified and treated promptly to avoid development of serious articular disease. The tendency to develop severe articular disease is likely immunogenetically linked.

Antihistone antibodies in linear scleroderma variants

Linear scleroderma occurs as two clinically distinct variants: the frontoparietal en coup de sabre type, and the torso-extremity type. Antihistone antibodies (AHAs), which traditionally are markers for drug-induced lupus, may also be linked to linear scleroderma. Retrospective review of all patients presenting with linear scleroderma who had AHA titers measured. A total of 35 patients were identified. Twenty patients with linear scleroderma of the torso and/or extremities comprised 14 pediatric patients (<or=18 years old; positive AHA, 10/14=71%; positive ANA, 3/13=23%) and six adults (four positive AHA; five positive ANA). Among the 15 patients with frontoparietal linear scleroderma, en coup de sabre type, 11 were pediatric patients (positive AHA, 5/11=45%; positive ANA, 4/11=36%) and four were adults (1 positive AHA/ANA). The two clinical variants of linear scleroderma are not only clinically distinct, but also may be serologically different. The AHA titers may be related to the extent of involvement as well as disease activity in linear scleroderma.

Beneficial Effect of Immunosuppressive Drugs on Parry-Romberg Syndrome: A Case Report and Review of the Literature

Progressive facial hemiatrophy, also known as Parry-Romberg syndrome (PRS), is characterized by slowly progressive atrophy of one side of the face, primarily involving the subcutaneous tissues and fat. Involvement of the central nervous system with impairment of neurologic function occurs infrequently. At present, there is no agreement as to whether PRS is a distinct entity or a clinical variant of linear scleroderma en coup de sabre. The exact reason for PRS has not yet been determined; therefore, no suitable treatment exists. We observed beneficial effects of immunosuppressive agents on neurologic lesions in particular in a patient with PRS who presented with immunoinflammatory findings and neurologic involvement, apart from cutaneous manifestations.

Histopathological and ultrastructural features of dermal telangiectasias in systemic sclerosis

To investigate the histological, ultrastructural and immunohistochemical features of the vascular lining of dermal telangiectasia, a characteristic clinical finding in scleroderma. Standard histological, electron microscopic and immunohistological techniques were used to examine dermal telangiectasias in five patients with limited scleroderma, the most common scleroderma variant in Caucasian populations. The telangiectasias were dilated postcapillary venules located in the papillary and superficial reticular dermis. The vessel walls consisted of non-fenestrated endothelial cells surrounded by a variable number of pericytes and smooth muscle cells. There were no unique ultrastructural features. Thickened collagen fibres in the reticular or deep dermis were seen in all but one patient, although in variable and generally minimal quantities. Surrounding infiltrating inflammatory cells were scarce. No enhanced endothelial staining was obtained with antibodies directed against endoglin, endothelin, E-selectin and ICAM-1 suggesting a resting or inactivated state. The immunohistological and ultrastructural features of the lining endothelium of established telangiectasias in long-standing, limited scleroderma appear benign. It would be of interest to examine telangiectasias in the early phase of their formation. Alternatively, other explanations need to be explored in understanding the aetiopathogenesis of telangiectasia in scleroderma.

Scleroderma with type III glomerulonephritis and MPO‐ANCA antibodies in the serum

Scleroderma is an autoimmune disease characterized by early inflammatory infiltrates followed by fibrosis in the skin and internal organs. CREST is a relatively benign cutaneous variant of scleroderma that features calcinosis, Raynaud's phenomenon, oesophageal dysfunction, sclerodactyly and telangiectases. Glomerulonephritis is a rare association of CREST. We are reporting a patient with CREST who developed glomerulonephritis and had anticentromere and antineutrophil cytoplasmic autoantibodies (ANCA) in her serum.