Diagnosis Of Localized Scleroderma Research Articles

Localized Scleroderma Causes Peripheral Neuropathies and Persistent Elevated Cerebrospinal Fluid Protein: A Case Report

We present a case of peripheral neuropathies and persistent elevated cerebrospinal fluid protein that is attributed to localized scleroderma. This patient’s has been miss diagnosed for more than 14 years, and the diagnosis of localized scleroderma was finally set up by skin biopsy, providing further evidence for the value of skin biopsy in the clinical practice in peripheral neuropathies.

The First Presentation of Localized Scleroderma at Birth: Scleroderma as a Differential Diagnosis of Congenital Skin Lesion

Abstract Localized scleroderma is an uncommon autoimmune disease characterized by fibrosis of the skin and underlying tissue without involvement of blood vessels or internal organs. It usually affects children during later childhood, and early presentation of localized scleroderma during infancy is rare. In the current study, we report a child with localized scleroderma-related presentations occurring at birth. A 2-day-old male neonate presented with a firm, erythematous, and slightly pigmented plaque on his left thigh, leading to a change in the diameter of the affected foot and contracture of the left knee. At the age of 7 months, he was referred to our rheumatology clinic with normal growth and development. Laboratory studies, including urine and blood high-performance liquid chromatography assay, antinuclear antibodies, antitopoisomerase I, and rheumatic factor, were in the normal range. No signs of ocular involvement were noted during ophthalmological consultation. Skin biopsy showed mild acanthosis and collagen bundles, which replaced the fat around the sweat glands. A final diagnosis of localized scleroderma was made. Treatment was started with oral prednisolone, oral methotrexate (MTX), and colchicine. The skin lesion stopped progressing after 3 months of treatment. Steroid was then tapered over 6 months, while MTX and colchicine were continued for 2 years. Localized scleroderma during early infancy is a rare disease, but it should be considered as a differential in infants with erythematous and firm lesions on their body at birth because early treatment can prevent future complications.

New aspects of localized scleroderma pathogenesis: practical basis

BACKGROUND:Recently there has been an increase in the number of patients with scleroderma.
 AIM:This study aimed to investigate the pathogenesis and course and present the immunopathogenesis of localized scleroderma (LS) or morphea.
 MATERIALS AND METHODS:From 2010 to 2019, a prospective study of 77 patients with LS was conducted on the basis of the Leningrad regional center for specialized types of medical care. Based on histological examination, LS diagnosis was verified in 40 of 77 patients. Patients with LS (n = 40) were included in the first research group and were then divided into two subgroups based on the limitation period for the first symptoms of the disease: in subgroup I (n = 20), the disease manifested no later than 1.7 months before clinic visit; in subgroup II (n = 20), the limitation period was 1.5 years.
 RESULTS:Patients of both subgroups (n = 40) underwent immunohistochemical (IL-2, IL-4, CD4, CD8, vimentin, Toll-like receptor TLR7) tissue analysis and immunological blood tests to determine autoantibodies. To improve the differential diagnosis of LS, a comparative assessment of clinical manifestations and histological signs was performed in patients with LS (n = 40) and patients with clinically similar dermatoses (n = 37): annular granuloma (n = 12, 7 women and 5 men, average age 44 12 years), small plaque (n = 15, 6 women and 9 men, average age 42 4 years), and large plaque (n = 10, 5 women and 5 men, average age 59 8 years) parapsoriasis. According to the results of the histological examination, inflammatory changes are dominant in patients with LS manifestation period of 1.7 months from the onset of the disease, while fibrotic changes are apparent in patients with a manifestation period of 1.5 years. The expressions of CD4, CD8, IL-2, and TLR7 were more pronounced in subgroup 1, while those of IL-4, CD4, and vimentin were high in subgroup 2. No autoantibodies were detected in the blood of patients with LS. The results allow us to divide the pathogenesis of LS into two phases: inflammatory and fibrotic. Immune dysregulation and fibrosis occur simultaneously, but with phase dependant predominance.
 CONCLUSIONS:In the future, a detailed understanding of the pathogenesis of LS will help improve diagnostic and therapeutic algorithms and reduce the frequency of relapse and complications.

Progressive facial hemiatrophy (Parry-Romberg syndrome): short case report

Introduction: The Parry Romberg syndrome (PRS) is a mosaic disease of unknown aetiology which mostly affects women. The facial hemiatrophy generally begins during the early childhood. It has a great impact on social life, and aesthetic rehabilitation is a major challenge. Observation: A 38 years-old-female patient presented with an enucleation of the left eye, due to multiple hamartomas and progressive facial hemiatrophy. The placement of 2 extraoral implants was proposed to bear an ocular epithesis. Comments: PRS develops between the 2nd and 20th year of life, and stabilizes at the adult age. Its main characteristic is a progressive facial hemiatrophy, which involves skin, fat tissues, muscles and osteocartilaginous tissues. 20% of patients have neurological symptoms, and epilepsy is often described as a side effect of the disease. Conclusion: Diagnosis of localized scleroderma has to be eliminated, as these 2 entities are very similar. Major facial reconstructive surgery is often proposed to restore aesthetics.

284. A Study of Morphea in Systemic Sclerosis: Defining Links Between Localized and Systemic Sclerosis

Background: Some patients with SSc develop skin features of localized scleroderma. One clinical subtype, keloid/nodular morphea, is particularly challenging to treat and may offer insight into key pathogenetic mechanisms. We have identified a cohort of SSc cases with concurrent localized scleroderma and examined their clinical and laboratory features and undertaken gene expression analysis to define the underlying pathogenic mechanism. Methods: We examined a clinical database of 2200 patients with SSc to identify all patients with a clinical or histological diagnosis of localized scleroderma and SSc overlap. The demographics, clinical features and serology of these patients were examined in detail. We undertook gene expression analysis of forearm and keloid/nodular morphea lesional skin biopsies from six patients by RT-PCR for matrix genes including COMP and thrombospondin-1, skin biopsies from patients with early or established diffuse cutaneous SSc provided a control group. Results: 49 patients (2.2%) had evidence of localized scleroderma and SSc. Demographic and clinical data from this group were broadly comparable to the SSc cohort, excepting higher prevalence in females (female: male ratio 11:1). Limited: diffuse cutaneous SSc ratio was 2:1 which is representative of this SSc cohort. Three subtypes of localized scleroderma were prevalent in this patient group: plaque morphea in 32 patients (67%); linear morphea of trunk and limbs in 4 patients (8.0%) and keloid/nodular morphea in 12 patients (25%). 28 out of 32 patients with plaque morphea and 3 out of 4 patients with linear morphea had limited cutaneous SSc, while 11 out of 12 subjects with keloid/nodular morphea had diffuse cutaneous SSc (P<0.001). There were no clear serological associations when correcting for subset. Black ethnicity, as could be expected, was prevalent in patients with keloid/nodular morphea (58% of keloid patients compared with 4% in our SSc cohort). Keloid nodules were localized on the upper chest, breast and upper limbs. Demographic, clinical and serological data are summarized in Table 1. Gene expression analysis defined key markers of matrix over expression compared with early stage or established SSc lesional skin. Conclusion: This is the largest analysis of localized scleroderma in SSc to be presented. There are particular associations of subtypes of localized scleroderma with subsets of SSc which are not related to serology. Paired gene expression of keloid and non-keloid SSc skin will contribute to an understanding of pathogenesis of this rare but important complication. Disclosure statement: The authors have declared no conflicts of interest.

Bath psoralen–UVA photochemotherapy for localized scleroderma: experience from a single institute

Localized scleroderma (LS) comprises a spectrum of sclerotic autoimmune diseases primarily affecting the dermis. Various treatment modalities have been recommended for the management of LS, but only a few studies exist regarding the efficacy of bath PUVA photochemotherapy in the treatment of LS. To evaluate the efficacy of bath PUVA photochemotherapy in the management of LS in a retrospective study. Twenty-eight patients (23 women and five men) with a diagnosis of LS, confirmed by histology, were included in the study. Patients were treated with a thrice-weekly regimen of bath immersion in 0.2 mg/1 water solution of 8-methoxypsoralen, followed by irradiation with UVA. Eleven patients (39%) showed complete remission (complete softening of the sclerotic plaques with or without postinflammatory hyper- or hypopigmentation) after a mean of 71 treatments (range 33-170) and a mean cumulative dose of 115 J/cm(2) (range 11-232). Partial softening and regression of the sclerotic plaques was observed in 14 patients (50%). Three patients (10.7%) showed no effect, and in none of the patients was worsening noted during treatment. In our experience, bath PUVA photochemotherapy is an effective and well-tolerated treatment option for LS and should be considered as one of the first-line treatment modalities.

Multiphoton laser scanning microscopy of localized scleroderma

A real-time, non-invasive method will confer a benefit for the diagnosis and treatment of localized scleroderma (LS) in the clinic. The aim of this work was to demonstrate the potential of multiphoton laser scanning microscopy (MPLSM) for diagnosing LS and monitoring the treatment response in vivo. Three sclerodermatous skin specimens and two normal skin specimens were investigated using MPLSM based on two-photon excitation fluorescence (TPEF) and second harmonic generation (SHG). MPLSM consists of a femtosecond Ti:sapphire laser and a scanning inverted microscope. Several parameters such as the epidermal thickness, the orientation ratio index of collagen bundles (ORICB), the spacing of collagen fibrin as well as the SHG to TPEF index of the dermis (STID) were developed to quantitatively discriminate the sclerodermatous skin from the normal skin. The morphological differences were visualized obviously in the TPEF/SHG images of human skin (normal and sclerodermatous). The values of the developed parameters in normal skin were significantly different from that in sclerodermatous skin (P<0.05). MPLSM could discriminate the sclerodermatous skin from the normal skin. With the advent of the clinical portability of typical MPLSM, this technique has great potential for application in the in vivo diagnosis of LS as well as for monitoring the treatment response.

Localized scleroderma: A series of 52 patients

Background Localized scleroderma also called morphea is a skin disorder of undetermined cause. The widely recognized Mayo Clinic Classification identifies 5 main morphea types: plaque, generalized, bullous, linear and deep. Whether each of these distinct types has a particular clinical course or is associated with some patient-related features is still unclear. Methods We report here a retrospective series of patients with localized scleroderma with an attempt to identify features related to the type of lesion involved. The medical records of all patients with a diagnosis of localized scleroderma were reviewed by skilled practitioners. Lesions were classified according to the Mayo Clinic Classification. The relationship between each lesion type and various clinical features was tested by non-parametrical methods. Results The sample of 52 patients included 43 females and 9 males. Median age at onset was 30 y (range 1–76). Frequencies of patients according to morphea types were: plaque morphea 41 (78.8%) (including morphea en plaque 30 (57.7%) and atrophoderma of Pasini–Pierini 11 (21.1%)), linear scleroderma 14 (26.9%). Nine patients (17.3%) had both types of localized scleroderma. Median age at onset was lower in patients with linear scleroderma (8 y (range 3–44)) than in others (36 y (range 1–77)) ( p = 0.0003). Head involvement was more common in patients with linear scleroderma (37.5%) than in other subtypes (11.1%) ( p = 0.05). Atrophoderma of Pasini–Pierini was never located at the head. Systemic symptoms, antinuclear antibodies and the rheumatic factor were not associated with localized scleroderma types or subtypes. Conclusion These results suggest that morphea types, in adults are not associated with distinct patient features except for age at disease onset (lower) and the localization on the head (more frequent), in patients with lesions of the linear type.