Severe Skin Involvement Research Articles

Menor incidencia de daño grave en órganos diana en pacientes mexicanos con esclerosis sistémica con afección cutánea difusa

Objective: To determine the cumulative incidence of severe organ involvement in Mexican patients with systemic sclerosis (SS) and diffuse scleroderma at 3 years from the onset of SS symptoms, and to compare it with the cumulative incidence observed in a cohort of white patients with SS. Patients and method: Patients with SS and diffuse scleroderma were evaluated within the first 2 years from the onset of SS symptoms and were included. An estimation of the cumulative incidence of severe involvement to the skin, kidney, heart, lungs, and gastrointestinal track at 3 years from the onset of SS symptoms was carried out. This cumulative incidence was compared with that of white SS patients with diffuse scleroderma, using the one sample test for a binomial proportion. Results: Sixty-three patients were included. The cumulative incidence of severe involvement to the skin was 3.17% (2/63) (95% CI, 0.04%-11); kidney involvement in 4.17% (3/63) (95% CI, 0.99%-13.29%); heart involvement in 1.6% (1/63) (95% CI, 0.04%-8.5%); lung involvement in 11.11% (7/63) (95% IC, 4.5%-21.5%); and gastrointestinal involvement in 4.7% (3/63) (95% IC, 0.99%-13.3%). Mexican patients had a lower incidence of severe skin involvement (P=.0001), kidney involvement (P=.03) and heart involvement (P=.03) compared to white SS patients with diffuse scleroderma. Conclusions: The cumulative incidence of severe organ involvement in SS Mexican patients with diffuse scleroderma was determined. The incidence of severe skin, kidney and heart involvement is lower than in white SS patients with diffuse scleroderma

Lower Incidence of Severe Damage to Target Organs in Mexican Patients With Systemic Sclerosis and Diffuse Skin Affection

To determine the cumulative incidence of severe organ involvement in Mexican patients with systemic sclerosis (SS) and diffuse scleroderma at 3 years from the onset of SS symptoms, and to compare itwith the cumulative incidence observed in a cohort of white patients with SS.Patients with SS and diffuse scleroderma were evaluated within the first 2 years from the onset of SS symptoms and were included. An estimation of the cumulative incidence of severe involvement to the skin, kidney, heart, lungs, and gastrointestinal track at 3 years from the onset of SS symptoms was carried out. This cumulative incidence was compared with that of white SS patients with diffuse scleroderma, using the one sample test for a binomial proportion.Sixty-three patients were included. The cumulative incidence of severe involvement to the skin was 3.17% (2/63) (95% CI, 0.04%-11); kidney involvement in 4.17% (3/63) (95% CI, 0.99%-13.29%); heart involvement in 1.6% (1/63) (95% CI, 0.04%-8.5%); lung involvement in 11.11% (7/63) (95% IC, 4.5%-21.5%); and gastrointestinal involvement in 4.7% (3/63) (95% IC, 0.99%-13.3%). Mexican patients had a lower Reumatol Clin. 2008;4(1):3-7 3 02 ORIG 2582 (3-7).qxp 23/1/08 11:09 Página 4 Rojas-Serrano J et al. Incidencia de daño grave en pacientes mexicanos con esclerosis sistémica incidence of severe skin involvement (P=.0001), kidney involvement (P=.03) and heart involvement (P=.03) compared to white SS patients with diffuse scleroderma.The cumulative incidence of severe organ involvement in SS Mexican patients with diffuse scleroderma was determined. The incidence of severe skin, kidney and heart involvement is lower than in white SS patients with diffuse scleroderma.

Scleroderma patients nailfold videocapillaroscopic patterns are associated with disease subset and disease severity

To evaluate in a large group of scleroderma patients, the association of nailfold videocapillaroscopic patterns with both demographic and clinical features. One hundred and three Italian patients (91 women and 12 men, mean age 54.3 years, median disease duration 7 yrs, 68 with limited and 35 with diffuse subset of disease), consecutively enrolled for the study, underwent nailfold videocapillaroscopy; the microvascular alterations were classified into three different patterns, early, active and late. The nailfold videocapillaroscopic patterns were correlated with such numerous clinical features as sex, age, disease duration, disease subset, disease activity, haematochemical data, involvement of skin, heart, lung and peripheral vessels. Nailfold videocapillaroscopic patterns were significantly associated with disease subsets (P = 0.018). Severity of skin, lung, heart and peripheral vascular involvement progressively increased across nailfold videocapillaroscopic patterns, from early to late pattern (P < 0.001 for cutaneous and peripheral vascular involvement; P = 0.003 and 0.002 for lung and heart involvement, respectively) as well as homocysteine plasma levels (P = 0.02). Patients with late pattern showed an increased risk to have an active disease [OR (odds ratio) 3.50; 95% CI (confidence interval) 1.31-9.39], to present digital ulcers (OR 5.74; 95% CI 2.08-15.89) and moderate to severe skin (OR 5.28; 95% CI 1.93-14.19), heart (OR 5.75; 95% CI 2.04-16.21) and lung involvement (OR 4.41; 95% CI 1.63-11.92). Our study showed that scleroderma microangiopathy correlates with disease subset and severity of peripheral vascular, skin, heart and lung involvement; patients with late pattern showed an increased risk to have an active disease and to show a moderate/severe skin or visceral involvement compared to patients with early and active patterns. Therefore nailfold videocapillaroscopy, a simple, non-invasive and non-expensive investigation, is useful in staging scleroderma patients and also provides prognostic information.

Treatment of severe esophageal Crohn's disease with infliximab

Esophageal ulceration with fistula is an uncommon manifestation of Crohn's disease. Typical presentation of symptomatic esophageal Crohn's disease may include dysphagia, odynophagia, weight loss, and chest discomfort. We present a patient with severe esophageal and skin involvement of Crohn's disease that was progressive despite conventional therapy including prednisone and 6-mercaptopurine. The diagnosis of Crohn's was based on the presence of typical clinical, endoscopic, and pathologic findings, including granulomas in the skin ulcer and the absence of infectious etiologies. The patient had a nearly complete resolution of her esophageal disease with a single infusion of infliximab.

Keratitis?ichthyosis?deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by the association of skin lesions, hearing loss and vascularizing keratitis. KID syndrome is caused by autosomal dominant mutations in the connexin 26 gene (GJB2). To establish whether there is a correlation between genotype and phenotype in KID syndrome. Clinical examination and molecular analysis of GJB2 were performed in a cohort of 14 patients with KID syndrome originating from 11 families. We also reviewed the 23 cases with molecular analysis previously reported in the literature. The patients displayed the classical signs of KID syndrome with the additional finding of inflammatory nodules in six patients (43%); this clinical finding has not been described previously in the literature. One patient presented at the age of 18 years with a fatal carcinoma of the tongue, an extremely rare reported complication. For seven of the 11 families (64%) the disease was sporadic, whereas it was familial in the remaining four families (36%). Twelve patients (86%) were heterozygous for the p.Asp50Asn mutation and two patients (14%) were heterozygous for the p.Ser17Phe mutation. Surprisingly, a family in which we personally examined the healthy parents had two affected children heterozygous for the p.Asp50Asn mutation, suggesting germinal mosaicism. Compared with patients with the p.Asp50Asn mutation, the two patients with the p.Ser17Phe mutation had more severe skin involvement. One of these two patients experienced a carcinoma of the tongue. Familial cases appear to be more frequent than reported in the literature. The possibility of germinal mosaicism must be taken into account for genetic counselling. This study also suggests that patients with the p.Ser17Phe mutation may have a more severe phenotype and could be at higher risk for tongue carcinoma.

Hématome intramusculaire sévère au cours du purpura rhumatoïde

Introduction. – Henoch-Schönlein purpura is one of the most frequent systemic vasculitis in children. In adults, muscle involvement is extremely rare and not very well characterized. We report a case of Henoch-Schönlein purpura with severe skin and renal involvement in witch multiple intramuscular haematoma leaded to severe anaemia. Histological examination confirms the muscle localization of the disease. Exegesis. – A 68 years old man treated by oral anticoagulation for multiple venous thrombosis, was admitted with necrotic vasculitis of the skin, abdominal pain and segmental IgA glomerulopathy. The diagnosis of Henoch-Schönlein purpura was rapidly made and intensive steroid therapy started. After rapid improvement, a haemorrhagic shock due to voluminous intramuscular haematoma was diagnosed by MRI. Histological examination of the muscle, confirms the localization of the disease. Conclusion. – Intramuscular haematomas are very uncommon in Henoch-Schönlein purpura. There are usually a consequence of muscular immune complex vasculitis. In our patient, high dose corticosteroid was not unable to control the disease.

Severe organ involvement in systemic sclerosis with diffuse scleroderma.

To determine the natural history and timing of severe involvement of the kidney, heart, lung, gastrointestinal (GI) tract, and skin in patients with systemic sclerosis (SSc) and diffuse cutaneous involvement. This study used the Pittsburgh Scleroderma Databank and included patients with diffuse scleroderma who were seen between January 1, 1972 and December 31, 1995. Patients had frequent follow-ups, and a 95% accountability for these patients was maintained. Severe organ involvement was defined as the presence of any of the following: 1) in the kidney, scleroderma "renal crisis"; 2) in the heart, cardiomyopathy, symptomatic pericarditis, or an arrhythmia requiring treatment; 3) in the lung, pulmonary fibrosis on chest radiograph and a forced vital capacity of <55% of predicted; 4) in the GI tract, malabsorption, repeated episodes of pseudoobstruction, or severe problems requiring hyperalimentation; and 5) in the skin, a modified Rodnan skin score >40. The timing from disease onset to survival for each case of severe organ involvement was determined. Of the 953 patients with diffuse scleroderma, kidney involvement developed in 177 (19%), heart involvement in 143 (15%), lung involvement in 151 (16%), GI tract involvement in 74 (8%), and skin involvement in 233 (24%). Severe skin and kidney involvement occurred during the first 3 years in 70% of those who ever developed these problems throughout a mean of 10 years of followup. Severe heart, lung, and GI tract involvement developed during the first 3 years in 45-55% of those who were ever affected. The survival of patients with severe organ involvement was poor. The 9-year cumulative survival rate of all patients with severe organ involvement was 38%, compared with 72% in patients without such involvement (P < 0.0001). This study demonstrates that severe organ involvement in SSc patients with diffuse scleroderma most often occurs early in the course of the disease. Survival for patients with severe organ involvement is markedly reduced. Patients should therefore be monitored very closely during the first 3 years of disease for signs and symptoms that may signal the subsequent development of severe organ damage. Potential disease-modifying therapies must be initiated early to modify the natural history of SSc and to improve survival. Patients who survive the first few years without developing severe organ involvement are less likely to develop such life-threatening involvement later in the disease course.

Are lipoprotein profile and lipoprotein (a) levels altered in men with psoriasis?

Previous studies have demonstrated that patients with psoriasis may have an increased risk of a variety of noncutaneous diseases, including arterial and venous occlusive diseases. Changes in plasma lipid and lipoprotein composition in patients with psoriasis may be the reason for the increased risk of atherosclerosis in these patients. Lipoprotein (a) (Lp(a)) is a genetically determined lipoprotein associated with an increased prevalence of atherosclerotic and thrombotic cardiovascular diseases. The aim of this prospective study was to determine the lipid profile and to define the significance of Lp(a) levels in men with psoriasis. The other purpose was to learn whether a correlation exists between psoriasis area and severity index score and serum Lp(a) or other lipids. Serum Lp(a) levels were measured with a commercially available noncompetitive enzyme-linked immunosorbent assay in 32 men with psoriasis and in 13 healthy men. Total serum cholesterol, triglyceride, high-density lipoprotein, low-density lipoprotein, apolipoprotein A-I and apolipoprotein B levels, and atherosclerotic risk factors other than hyperlipidemia were determined. Secondary hyperlipidemia from various diseases and drugs was ruled out in both groups. Serum Lp(a) levels were higher in men with psoriasis than in healthy male subjects, but the difference was not significant (p = 0.063). Serum fasting glucose levels were also found to be higher in the psoriasis group (p < 0.05). Higher serum Lp(a) and fasting glucose levels tended to occur in patients with extensive and severe skin involvement. No statistical differences were observed in the total cholesterol, triglyceride, high-density lipoprotein, low-density lipoprotein, apolipoprotein A-I, and apolipoprotein B levels between the two groups (p > 0.05). Our results suggest that the increased Lp(a) level might be a factor involved in occlusive vascular disorders in patients with psoriasis and that patients with extensive and severe skin involvement are more predisposed to relatively high Lp(a) levels.

Epibulbar Squamous Cell Carcinomas in Brothers With Xeroderma Pigmentosa

We report two brothers aged 6.6 and 5 years old with the De Sanctis-Cacchione variant of Xeroderma Pigmentosa. They had typically severe skin, and ocular and neurologic involvement. Both had epibulbar squamous cell carcinomas. The oldest presented with a large, invasive, epibulbar mass of the left eye which required enucleation. He also had an invasive squamous cell carcinoma of the right lower lid. The younger brother presented with a smaller papillomatous lesion at the medial limbus of the right eye. After removal, this was found to be squamous cell carcinoma in-situ. Flow cytometry done on the tumors revealed diploidy. The case descriptions, histopathology, and discussion of ocular manifestations are presented.

Topical nitrogen mustard: An effective treatment for cutaneous Langerhans cell histiocytosis

In 16 children with multisystem Langerhans cell histiocytosis (mean age 22 months, range 5 to 36 months) severe symptomatic skin involvement was treated with topical nitrogen mustard (mechlorethamine hydrochloride). In each case, rapid clinical improvement occurred within 10 days; subsequent complete healing was observed in 14 children, and partial healing in 2 others in whom treatment was a component of palliative care. Mean duration of treatment was 3.5 months (range 2 to 6 months). Systemic treatment was averted in 11 patients because response to topical therapy was so favorable, but bone marrow or respiratory failure led to a fatal outcome in 5 other patients. Adverse effects were minimal. One patient developed contact allergy to topical nitrogen mustard after 2 years of intermittent therapy, but was successfully desensitized and was then able to continue treatment. We conclude that the topical application of nitrogen mustard is an effective treatment for cutaneous Langerhans cell histiocytosis. Although adverse effects were minimal in the short term, there remains concern about the possibility of long-term cutaneous carcinogenicity.

Variable Expression of Albinism Within a Single Kindred

We studied the albinotic characteristics in 13 members of a white family (age range, 2 to 73 years), which were graded according to severity and were correlated with visual acuity. Clinical, electrophysiologic, and biochemical characteristics of this family do not fit any known category of human albinism. The degree of heterogeneity in expression of albinotic features was unexpected. The correlation between visual acuity and nystagmus was particularly strong. The brown-haired propositus had severe skin involvement, iris transillumination, fundus hypopigmentation, and foveal hypoplasia. He had no manifest nystagmus, however, and his visual acuity was nearly normal. These observations suggest that nystagmus imposes a visual deficit beyond that related to foveal hypoplasia alone.

Lethal chondrodysplasia punctata, Conradi Hünermann subtype A, one case

Lethal Conradi Hünermann disease is described in a patient with severe skin and skeletal involvement. Skin lesions, now considered as a peculiar form of ichthyosis, consisted of adnexal and pilar follicle hyperkeratosis, polymorphonuclear exocytosis, irregular keratohyaline distribution and frequent paranuclear vacuoles in stratum Malpighi. Numerous chondrocyte clusters and calcified masses were found in the epiphyseal cartilage. The growth plate was disorganised. There was a bilateral cataract. This severe lethal form of Conradi Hünermann disease corresponds to the subgroup A denomination of Spranger and may be a severe manifestation of X-linked Chondrodysplasia punctata.

Racial Differences in Breast Cancer Patients&lt;xref ref-type="fn" rid="FN2"&gt;2&lt;/xref&gt;

One thousand seventy-eight patients diagnosed with primary breast cancer were examined for racial differences in histopathologic and clinical parameters. There were no observed differences in tumor histopathologic type or tumor endocrine status between races. There were no differences with respect to time to breast tumor recurrence observed between black and white patients. However, differences were observed in factors that contributed to tumor stage at diagnosis and to tumor grade. Survival differences observed in univariant analysis of blacks vs. whites were explainable by the presence of more severe skin involvement, tumor grade, and tumor size at diagnosis in the black patients.

Histopathology and Cytology of Oral Lesions of Pemphigus

Oral lesions of pemphigus are a common manifestation of the disease, and often precede the severe skin involvement. The histopathology of the oral lesion is invariably diagnostic for pemphigus. The oral cytologic smear is highly suggestive of the disease. Where a diagnosis with grave implications is to be made, as for pemphigus, all available diagnostic criteria should be utilized. These should include both the oral biopsy and the oral cytologic smear.

Acute disseminated lupus erythematosus with seven-year recovery—Case report

<h2>Summary</h2> A case of acute disseminated lupus erythematosus with severe skin and visceral involvement and a septic complication is reported. Spontaneous resolution of the disease occurred, and the patient is healthy and vigorous after seven years.