Esclerodermia localizada en escolar de 10 años / Localized scleroderma in a 10-year-old schoolgirl

Dentro del grupo de enfermedades reumáticas la esclerodermia es una de las de menor frecuencia de presentación, por lo que muchos autores la consideran una enfermedad rara. Aunque afecta predominantemente a pacientes adultos, en ocasiones se presenta en edades pediátricas y sus formas localizadas son las manifestaciones más frecuentes a estas edades. El objetivo del presente reporte es presentar el caso de una escolar de 10 años de edad, con un cuadro de lesión en la piel de 3 años de evolución a la cual se le diagnostica, mediante las características clínicas y los resultados de estudios anatomopatológicos una esclerodermia localizada profunda. En la actualidad la paciente se mantiene en régimen de seguimiento multidisciplinario. Este reporte de caso es importante para compartir con la comunidad médica los elementos básicos relacionados con el diagnóstico y tratamiento de esta enfermedad, como alternativa a la reducción de las complicaciones que genera(AU)

Within the group of rheumatic diseases, scleroderma is one of those with the lowest frequency of presentation; being considered a rare disease by many authors. Although it has a predominance of affectation in adult patients, it sometimes occurs in pediatric ages, its localized forms being the most frequent forms of presentation. The objective of this report is to present the case of a 10-year-old schoolgirl, with a 3-year history of skin lesions, which was diagnosed, through clinical characteristics and results of pathological studies, as deep localized scleroderma. The case report is considered important to share with the medical community the basic elements related to the diagnosis and treatment of this disease, as an alternative to reducing the complications it generates(AU)

Morphea mimicking facial capillary malformations: Two new cases and review of the literature.

Morphea and facial capillary malformations (port-wine stains) are distinct conditions that can affect the pediatric population. Early localized morphea mimicking a capillary malformation is an uncommon clinical presentation. We present two new cases of girls, aged 2 and 3 years, who presented with erythematous patches, initially diagnosed as capillary malformations, which were later diagnosed as morphea. We also performed a literature review, yielding 12 additional cases that underscore that the unusual presentation of morphea may delay correct diagnosis. Although early management of morphea reduces long-term sequelae, it is important to delay laser treatment for selected acquired vascular malformations, until the diagnosis of morphea is excluded.

Autoantibodies and scleroderma phenotype define subgroups at high-risk and low-risk for cancer.

OBJECTIVES: Recent studies demonstrate autoantibodies are powerful tools to interrogate molecular events linking cancer and the development of autoimmunity in scleroderma. Investigating cancer risk in these biologically relevant subsets may provide an opportunity to develop personalised cancer screening guidelines. In this study, we examined cancer risk in distinct serologic and phenotypic scleroderma subsets and compared estimates with the general population. METHODS: Patients in the Johns Hopkins Scleroderma Center observational cohort were studied. Overall and site-specific cancer incidence was calculated in distinct autoantibody and scleroderma phenotypic subsets, and compared with the Surveillance, Epidemiology and End Results registry, a representative sample of the US population. RESULTS: 2383 patients with scleroderma contributing 37 686 person-years were studied. 205 patients (8.6%) had a diagnosis of cancer. Within 3 years of scleroderma onset, cancer risk was increased in patients with RNA polymerase III autoantibodies (antipol; standardised incidence ratio (SIR) 2.84, 95% CI 1.89 to 4.10) and those lacking centromere, topoisomerase-1 and pol antibodies (SIR 1.83, 95% CI 1.10 to 2.86). Among antipol-positive patients, cancer-specific risk may vary by scleroderma subtype; those with diffuse scleroderma had an increased breast cancer risk, whereas those with limited scleroderma had high lung cancer risk. In contrast, patients with anticentromere antibodies had a lower risk of cancer during follow-up (SIR 0.59, 95% CI 0.44 to 0.76). CONCLUSIONS: Autoantibody specificity and disease subtype are biologically meaningful filters that may inform cancer risk stratification in patients with scleroderma. Future research testing the value of targeted cancer screening strategies in patients with scleroderma is needed.

Underdiagnosed and disfiguring - Radiation-induced morphea following breast cancer treatment.

OBJECTIVES: Radiation-induced morphea (RIM) is a rare, painful and disfiguring complication in women who receive adjuvant radiotherapy treatment for breast cancer. It is a distinct entity unrelated to radiation-induced fibrosis of the breast. MATERIALS AND METHODS: Between the years 2005-2016, approximately 12,000 breast cancer cases were treated with surgery and radiation in the central district of Israel. From that population, we have identified and managed the cases of breast RIM by a multidisciplinary team of dermatologists, breast surgeons, and plastic surgeons. Demographic, oncologic, diagnostic and treatment data were collected and reviewed. RESULTS: Three cases of breast radiation-induced morphea, with an estimated prevalence of 1:3000 cases of post-breast cancer radiation where identified. The first signs of morphea appeared years after the completion of standard RT. Early management leads to superior cosmetic results. CONCLUSIONS: Unfortunately, there are no known predictors for RIM. Early recognition by the oncologist, the breast surgeon or the reconstructive surgeon during follow-up enables expeditious provision of patient reassurance and helps guide potential treatment options.

Morphea and Eosinophilic Fasciitis: An Update.

Morphea, also known as localized scleroderma, encompasses a group of idiopathic sclerotic skin diseases. The spectrum ranges from relatively mild phenotypes, which generally cause few problems besides local discomfort and visible disfigurement, to subtypes with severe complications such as joint contractures and limb length discrepancies. Eosinophilic fasciitis (EF, Shulman syndrome) is often regarded as belonging to the severe end of the morphea spectrum. The exact driving mechanisms behind morphea and EF pathogenesis remain to be elucidated. However, extensive extracellular matrix formation and autoimmune dysfunction are thought to be key pathogenic processes. Likewise, these processes are considered essential in systemic sclerosis (SSc) pathogenesis. In addition, similarities in clinical presentation between morphea and SSc have led to many theories about their relatedness. Importantly, morphea may be differentiated from SSc based on absence of sclerodactyly, Raynaud's phenomenon, and nailfold capillary changes. The diagnosis of morphea is often based on characteristic clinical findings. Histopathological evaluation of skin biopsies and laboratory tests are not necessary in the majority of morphea cases. However, full-thickness skin biopsies, containing fascia and muscle tissue, are required for the diagnosis of EF. Monitoring of disease activity and damage, especially of subcutaneous involvement, is one of the most challenging aspects of morphea care. Therefore, data harmonization is crucial for optimizing standard care and for comparability of study results. Recently, the localized scleroderma cutaneous assessment tool (LoSCAT) has been developed and validated for morphea. The LoSCAT is currently the most widely reported outcome measure for morphea. Care providers should take disease subtype, degree of activity, depth of involvement, and quality-of-life impairments into account when initiating treatment. In most patients with circumscribed superficial subtypes, treatment with topical therapies suffices. In more widespread disease, UVA1 phototherapy or systemic treatment with methotrexate (MTX), with or without a systemic corticosteroid combination, should be initiated. Disappointingly, few alternatives for MTX have been described and additional research is still needed to optimize treatment for these debilitating conditions. In this review, we present a state-of-the-art flow chart that guides care providers in the treatment of morphea and EF.

Comorbid autoimmune diseases in patients with vitiligo: A cross-sectional study.

BACKGROUND: Few large-scale studies have quantified the burden of comorbid autoimmune diseases in patients with vitiligo. OBJECTIVE: We sought to determine the prevalence of comorbid autoimmune diseases in patients with vitiligo. METHODS: We conducted a manual chart review on a cohort of 1873 patients with vitiligo seen between January 2002 and October 2012 at the Henry Ford Health System in Detroit, MI. Patients were excluded if they had fewer than 2 dermatology notes (N = 595) or if they were never given a diagnosis of vitiligo by a dermatologist (N = 180). RESULTS: Of 1098 patients with vitiligo, nearly 20% had at least 1 comorbid autoimmune disease. Compared with the general US population, we found a higher prevalence of thyroid disease (12.9%, P < .001), alopecia areata (3.8%, P < .001), inflammatory bowel disease (0.9%, P = .046), pernicious anemia (0.5%, P = .007), systemic lupus erythematosus (0.3%, P = .048), Guillain-Barre syndrome (0.3%, P < .001), discoid lupus (0.2%, P = .003), linear morphea (0.2%, P < .001), myasthenia gravis (0.2%, P = .002), and Sjögren syndrome (0.2%, P = .011). LIMITATIONS: The study lacked a control group. This was a single-institution study with possible selection bias, and thus the findings may not be representative of the overall population of patients with vitiligo. CONCLUSIONS: We observed a high prevalence of comorbid autoimmune diseases in patients with vitiligo and report several new associations.

The frequency of pulmonary hypertension in patients with juvenile scleroderma.

Juvenile scleroderma (JS) represents a rarely seen group of connective tissue diseases with multiple organ involvement. Cardiac involvement in JSS is well known and, although rare in children, it may be an important cause of mortality and morbidity. Therefore, an early determination of cardio-vascular and pulmonary involvement is of the most relevance to reduce the mortality in patients with juvenile scleroderma. The aim of the study was to explore the non-invasive methods (Doppler echocardiography, pulmonary function tests), Forced vital capacity (FVC) and Carbon monoxide diffusion capacity (DLCO) in the assessment of the cardiopulmonary involvement in patients with JS. The assessment of pulmonary arterial pressure (PAP) and risk factors for pulmonary arterial hypertension (PAH) were made by the measurement of maximum tricuspid insufficiency (TI), end-diastolic pulmonary insufficiency (PI), ratio of acceleration time (AT) to ejection time (ET) (AT/ET), right atrial pressure (RAP) and contraction of vena cava inferior during inspiration. Thirty-five patients with confirmed JS were included in the study. The mean age of onset of the disease was 9.57 years (median 10 years, range 2-18 years). The mean disease duration and follow-up time was 2 years (median 1 year, range 0.5-8 years) and 3.57 years (median 2 years, range 0.5-14.5 years), respectively.The values of all the analyzed parameters including TI, PI, AT/ET, PAP, FVC and DLCO were found to be within normal ranges in all the patients tested, confirming an uncommonness of cardiopulmonary involvement in patients with juvenile scleroderma.

Overlap between linear scleroderma, progressive facial hemiatrophy and immune-inflammatory encephalitis in a paediatric cohort.

Linear scleroderma en coup the sabre (LSCS), progressive facial hemiatrophy (PFH) and autoimmune encephalitis are distinct clinical entities, although patients with overlapping features have been reported. We performed a multicenter retrospective review of a series of children with LSCS and/or PFH to explore the relation between these entities. The files of 16 children were reviewed, 11 presented with LSCS, 5 with PFH, with time overlapping cutaneous features were seen. Extracutaneous signs were found in both groups. ANA were present in more than 50 % of patients. Almost half of our patients presented with CNS manifestations comprising unilateral headache, migraine and epilepsy with or without abnormalities on MRI. Brain biopsy in one patient was consistent with Rasmussen encephalitis. In two other children, associated autoimmune manifestations were present. CONCLUSION: Our patient cohort brings more arguments to consider LSCS and PFH as a single disease entity with LSCS and superficial skin involvement at one end of the spectrum and PFH with involvement of subcutaneous deep tissue at the other end. In both entities, encephalitis can be observed. Our findings of circulating ANA, intradermal lymphocytes and IgG, intrathecal IgG production and clinical improvement with immunosuppressive therapy endorse the concept of a possible common immune-inflammatory pathogenesis. WHAT IS KNOWN: • LSCS, PFH and immune-inflammatory encephalitis are distinct clinical entities, but patients with overlapping features have been reported. WHAT IS NEW: • We present a unique paediatric cohort with LSCS, PFH and/or encephalitis. • We endorse the concept of a common immune-inflammatory disease process.

Drug induction in connective tissue diseases.

Connective tissue diseases (CTDs) are defined as a group of acquired disorders resulting from persistent immuno-mediated inflammation. Several classes of drugs seem to be capable of inducing or exacerbating CTDs. A drug-induced (DI) syndrome is defined as a condition temporally related to continuous drug exposure, which resolves upon drug discontinuation. Among CTDs, lupus erythematosus is the most widely known and investigated DI syndrome. However, in recent years, the association between the onset of other CTDs, such as dermatomyositis (DM) and morphea/systemic sclerosis (SSc) has increased in patients with preceding exposure to particular substances. Herein, we conducted a review of published case reports including DM and morphea/SSc, evaluating the real causality among drugs and these syndromes.

Lack of IgG antibody seropositivity to Borrelia burgdorferi in patients with Parry-Romberg syndrome and linear morphea en coup de sabre in Mexico.

BACKGROUND: Progressive hemifacial atrophy or Parry-Romberg Syndrome (PRS) is a rare, acquired, progressive dysplasia of subcutaneous tissue and bone characterized by unilateral facial involvement. Its etiology is unknown, but theories about its pathogenesis include infectious, degenerative, autoimmune, and traumatic causes among others. The causal relationship of PRS and linear morphea en coup de sabre (LMCS) with Borrelia burgdorferi infection remains controversial. Our goal was to serologically determine anti-B. burgdorferi antibodies in patients diagnosed with PRS and LMCS to establish a possible association as a causative agent. METHODS: We conducted a serology study with patients belonging to a group of 21 individuals diagnosed with PRS, six with LMCS, and 21 matched controls. Anti-Borrelia IgG antibodies were determined by ELISA. A descriptive statistical analysis and Fischer's exact test were done. RESULTS: In serological tests, only two cases had borderline values and were further analyzed by Western blot with non-confirmatory results. For both the PRS and LMCS group, the association test was not significant, suggesting a lack of association between PRS or LMCS and the presence of anti-Borrelia antibodies. CONCLUSION: In Mexico there are no previous studies on Borrelia infection and its relationship between PRS or LMCS. Our result showed a lack of association of either clinical entities with anti-Borrelia-antibodies. Former reports of this association may suggest coincidental findings without causal relationship.

The Localized Scleroderma Cutaneous Assessment Tool: responsiveness to change in a pediatric clinical population.

BACKGROUND: Lack of agreement on how to accurately capture disease outcomes in localized scleroderma (LS) has hindered the development of efficacious treatment protocols. The LS Cutaneous Assessment Tool (LoSCAT), consisting of the modified LS Skin Severity Index (mLoSSI) and the LS Damage Index, has potential for use in clinical trials. OBJECTIVE: The goal of this article is to further evaluate the clinical responsiveness of the LoSCAT. Based on the modifiable nature of disease activity versus damage, we expected the mLoSSI to be responsive to change. METHODS: At 2 study visits, a physician completed the LoSCAT and Physician Global Assessment (PGA) of Disease Activity and of Disease Damage for 29 patients with LS. Spearman correlations were used to examine the relationships between the change in the LoSCAT and the PGA scores. To evaluate contrasted group validity, patients were grouped according to disease activity classification and change scores of groups were compared. Minimal clinically important differences were calculated and compared with the standard error of measurement. RESULTS: Change in the mLoSSI score correlated strongly with change in the PGA of Disease Activity score, whereas change in the LS Damage Index score correlated weakly with change in the PGA of Disease Damage score. The mLoSSI and PGA of Disease Activity exhibited contrasted group validity. Minimal clinically important differences for the activity measures were greater than the respective standard errors of measurement. LIMITATIONS: Only 2 study visits were included in analysis. CONCLUSION: This study gives further evidence that the LoSCAT, specifically the mLoSSI, is a responsive, valid measure of activity in LS and should be used in future treatment studies.

Evaluation of cicatricial alopecia in Iran.

Cicatricle alopecia represents a diverse group of diseases characterized by a lack of follicular ostia and irreversible alopecia. This study aimed at evaluating cicatricial alopecia in Iranian patients. One hundred patients with cicatricial alopecia were studied. Patients disease was pathologically proven. All epidemiologic and clinicopathologic data were obtained through questionnaires. The results were analyzed by means of descriptive statistical methods. One hundred patients were consisted of 52 (52%) males and 48 (48%) females. 30 patients (24 males and 6 females) suffered from folliculate decalvans, 25 cases (10 males and 15 females) from DLE, 18 patients (6 males and 11 females) from brocq pseudopelade, 14 patients (4 males and 10 females) from lichen planopilaris, 8 patients (4 males and 4 females) from morphea and 5 cases (4 males and 1 female) from folliculate colloidalis. Early stage diagnosis by biopsy and proper treatment will reduce further progression and especially alleviate psychosocial disturbances.

Clinicohistopathological correlations in juvenile localized scleroderma: studies on a subset of children with hypopigmented juvenile localized scleroderma due to loss of epidermal melanocytes.

BACKGROUND: Localized scleroderma or morphea is a connective tissue disorder characterized by fibrosis of the skin and subcutaneous tissue. Excessive accumulation of collagen underlies the fibrosis, yet the pathogenesis is unknown. A subset of localized scleroderma/morphea, juvenile localized scleroderma (JLS), affects children and adolescents. OBJECTIVES: The clinical and microscopic features of JLS have not been fully characterized. The goal is to better characterize the microscopic features of JLS. METHODS: We collected a distinctive data set of 35 children with JLS, 19 (54%) of whom presented with hypopigmented lesions, and performed a retrospective chart and pathology review. We had adequate tissue for immunostaining studies on 8 of these individuals. RESULTS: We found that: (1) CD34 and factor XIIIa immunostaining, reported previously in adult morphea and scleroderma, when used with clinical information, is valuable for confirming a diagnosis of JLS; and (2) presence of hypopigmented lesions in JLS correlates with immunostaining studies. Decreased numbers of MelanA(+) melanocytes were present at the dermoepidermal junction in lesional skin in two of 3 children with hypopigmented JLS and in two of 4 children with nonhypopigmented JLS. LIMITATIONS: The number of cases is small, a function of the small number of children who have biopsy specimens with material sufficient for multiple immunostaining procedures. CONCLUSIONS: These results provide a useful immunostaining method for confirmation of the diagnosis of JLS. They suggest a complex autoimmune phenotype in some children with JLS.

A quantitative comparison of psychological and emotional health measures in 360 plastic surgery candidates: is there a difference between aesthetic and reconstructive patients?

This study examines the utility of the aesthetic and reconstructive categorization for making treatment decisions in patients seeking facial surgery. A total of 360 patients with aesthetic or combined functional aesthetic deficits were included. Validated psychological scales were used as outcome measures. All subjects showed clinically significant levels of appearance-related distress, with highest levels in the aesthetic and lowest levels in the functionally impaired group. Significant gender differences were not found on any psychological measures. A small negative correlation was found between age and distress. These findings challenge the validity of restricting treatment on the basis of an aesthetic distinction, since this is the group demonstrating the highest level of need. Neither age nor gender is a reliable discriminator. Subjective assessment of noticeability of disfigurement and associated psychological distress may be more useful in prioritizing treatment in systems with limited resources.

Juvenile scleroderma: experience in one institution.

BACKGROUND: Scleroderma is a chronic connective tissue disease characterized by hardened or scaly skin and widespread abnormalities of the viscera, which is rare in the pediatric age group. OBJECTIVE: In this study, we retrospectively reviewed 23 pediatric patients suffering systemic (SSc) and localized (LS) scleroderma. METHODS: Twenty-three patients were enrolled and were diagnosed with SSc or LS from March 1993 to September 2009 in the Department of Pediatrics at Mackay Memorial Hospital in Taipei, Taiwan. These diagnoses were based on the criteria of the American College of Rheumatology and the clinical manifestations of hard skin. Data recorded included sex, age-at-onset, age-at-diagnosis, laboratory data, family history, trauma history, treatment, and outcomes. RESULTS: Three patients suffered SSc and 20 patients had LS, including 16 girls and 7 boys. Mean age-at-onset was 6.55 +/- 3.28 years old. Antinuclear antibodies were positive in 15 patients. Tests for anti-Scl-70 antibodies were positive in 1 patient with SSc. One boy had en coup de sabre combined with a posterior fossa tumor. Twenty-two patients were treated with D-penicillamine. Oral prednisolone and methotrexate were added, if indicated. One girl with LS developed proteinuria after D-penicillamine treatment. All patients with localized disease ultimately documented a softening of their skin lesions. CONCLUSIONS: While scleroderma is rare in children, the prognosis of SSc is poor but better than for adults. The prognosis for LS is usually benign, however, the skin may become progressively indurated and it may not only be a skin disease. No progression from LS to SSc was observed in our study.

[Scleroderma cluster among type-setters]. / Cluster di connettiviti sclerodermiche nell'attività tipografica.

The etiology of systemic sclerosis, probably multifactorial, is not yet well defined. Among the many endogenous and exogenous factors probably involved, occupational elements may play an essential role. Here we report a cluster of local scleroderma and systemic sclerosis, which occurred in a small group of typography workers exposed to polyvinyl-acetate glues, containing up to 1% of vinyl-acetate. Vinyl acetate exposure has been associated with acidification of the intracellular environment, which is thought to produce cytotoxic and/or mitogenic responses that are the sentinel pharmacodynamic steps toward cancer. Autoantibody production in systemic sclerosis depends upon intracellular acidification. More studies are needed to clarify the relationship between vinyl acetate exposure and scleroderma.