MAGAZINE: December 2
REDUCED MAGAZINE: RevDosDic
ISSN: 2788-6786
RECEIVED: 2024/01/23
ACCEPTED: 2024/06/29
PUBLISHED: 2024/07/14
VOLUME: 7
3
CITE AS: Gallego Sánchez JA, García Gallego C, Hernández Peña A, Román Rodríguez A. JUVENILE DERMATOMYOSITIS WITH CALCINOSIS UNIVERSAL. A CASE REPORT . Revdosdic [Internet]. 2024 [cited: access date];7(3): e481 [approx. # p.]. Available from: https://revdosdic.sld.cu/index.php/revdosdic/article/view/481

JUVENILE DERMATOMYOSITIS WITH UNIVERSAL CALCINOSIS. REPORT OF A CASE

Jose Alfredo Gallego Sanchez1*
Camila García Gallego1
Arismel Hernández Peña1
Alejandro Román-Rodríguez2
1 Dr. Zoilo Enrique Marinello Vidaurreta University of Medical Sciences .Puerto Padre Medical Sciences Branch, Las Tunas.
2 Artemisa University of Medical Sciences.Artemisa, Cuba.

Abstract

Introduction: juvenile dermatomyositis with universal calcinosis is a rare disease in pediatric ages, especially in male sex. Objective: to present a case of juvenile dermatomyositis with universal calcinosis in a ten years old male teenager. Presentation of the case: male adolescent, white, ten years of age and urban origin; Product of an eutotic delivery, of controlled pregnancy, with a gestation time of 39.4 weeks and a weight of 2750 grams and Apgar at birth of 8/9. He went to the consultation accompanied by his mother, who said that his son presented Asttenia, with lesions on the skin of the face and elbows and joint pain, as well as difficulty walking due to muscle weakness. A series of complementary exams was performed that together with the clinical manifestations allowed the final diagnosis. Conclusions: the case of an adolescent with clinical and paraclinical characteristics of juvenile dermatomyositis was presented, this condition was diagnosed through the clinical elements and the performance of the complementary examinations described.

Keywords

Calcinosis, Dermatomyositis, Joints, Muscle Weakness

Introduction

Juvenile dermatomyositis (JDM) is a systemic autoimmune disease characterized by a symmetrical inflammatory myositis predominantly affecting proximal muscles with characteristic cutaneous lesions ( 1) . JDM is the most common idiopathic inflammatory myopathy of childhood, accounting for approximately 85% of cases. It has an annual incidence ranging from two to four cases per million per year [2] .

The disease has a peak onset between 5.7-6.9 years, but up to 25% of patients present with symptoms before age 4. Females are affected more frequently than males, with a ratio of 2.3 to 1 [3] .

Several diagnostic criteria for the disease are described; however, they all have in common the presence of proximal and symmetrical muscle weakness, elevated enzymes, neuromuscular abnormalities, pathognomonic dermatological manifestations, and certain histopathological changes in muscle biopsy. Confirmation of three of the five criteria confirms dermatomyositis. (4.5) .

Calcinosis occurs in approximately 30 to 70% of patients with JDM. Calcification is dystrophic and by definition occurs at sites of tissue injury with generally normal blood calcium and phosphorus levels, so it is not associated with disorders of calcium and phosphorus metabolism [6] .

There are various therapeutic regimens; however, unlike other rheumatic diseases, it is urgent to vigorously combat muscle inflammation, hence treatment is started with high doses of steroids and other disease-modifying drugs (DMARDs) such as methotrexate are administered. In case of complications, the use of antimalarials, immunoglobulins and immunosuppressants is also recommended [5], [7] .

Biological therapy, despite its effectiveness, has been reserved for patients with an unfavorable response or contraindication to DMARDs; the high cost and large number of adverse events are the main reasons for this decision [5], [7] .

This disease is not frequently found in children, and even less so in males. This is why this article aims to present a case of juvenile dermatomyositis with calcinosis universalis in a 10-year-old adolescent.

Case presentation

is presented as a 10-year-old white male adolescent from urban areas. He was born after a normal, controlled pregnancy, with a gestation period of 39.4 weeks, a weight of 2750 grams, and an Apgar score of 8/9 at birth. At eight months of age, he presented with attacks of transient wheezing in infancy and at one year of age, was diagnosed with grade II bronchial asthma, for which he received treatment during the attacks with salbutamol syrup (2 mg/5 ml). At seven years of age, he presented headaches and visual impairment, was diagnosed with myopia, and was treated with glasses. He attended the consultation accompanied by his mother, who reported that her son was experiencing weakness, skin lesions on his face and elbows, joint pain, and difficulty walking due to muscle weakness. Since he had no other symptoms, he was admitted to the hospital for further evaluation and treatment.

Physical examination:

Skin: Presence of erythematous facial lesions with mild heliotrope erythema around both eyes. Disseminated erythematous lesions on the trunk and upper and lower limbs. Presence of boils on the upper limbs ( IMAGE 1 ).

Figure 1: Boils on the upper right limb.
Imagen de resultado

Subcutaneous tissue: slight increase in volume in the left foot, up to the ankle, as well as in both knees.

Osteomyoarticular system: limitation of secondary extension and lateral rotation movements of the cervical spine. Limitation of shoulder abduction (45 degrees) and extension, as well as elbow extension. Difficulty walking and limitation of plantar extension. Proximal and symmetrical muscle weakness at the pelvic girdle, grade 2/5. Pain on movement of both wrists and knees. Pain on digitopression of the second and third bilateral proximal interphalangeal joints .

Based on the data obtained during the history and physical examination, the onset of systemic lupus erythematosus, a dermatologic syndrome, juvenile dermatomyositis, or a mixed connective tissue disease is clinically suspected.

The results of the complementary tests showed adequate levels of hemoglobin (12.6 g/ dL ), leukocytosis (13.6 mm x 109/L) with polymorphonuclear predominance (56%) with eosinophilia (6%). The erythrocyte sedimentation rate was found to be slightly accelerated (11 mm/h).

The simple chest radiograph in posteroanterior projection ( IMAGE 2 ) revealed that the cardiac contour and vascular silhouette showed dimensions of slight vascular dilation.

Figure 2: Chest X-ray in posteroanterior projection .
Imagen de resultado

radiographs of the lower ( IMAGE 3 -A) and upper limbs were performed , revealing bone edema at the ends of the long bones, which could be indicative of an inflammatory process. A decrease in periarticular bone density was also observed, as well as the presence of high-density subcutaneous calcifications (calcinosis) in the anterior tibial and fibula regions, with possible thickening of the soft tissues around the patellar joint. An X-ray of the left upper limb ( IMAGE 3 -B) also showed subcutaneous calcifications, a finding similar to that seen on the lateral projection plain skull radiograph ( IMAGE 4 ).

AB

Figure 3: X-rays A-Right lower limb. B-Left upper limb.
Imagen de resultado
Figure 4: X-ray of the skull and cervical spine in a lateral plane.
Imagen de resultado

Other complementary tests were performed, the results and reference values of which are shown in TABLE 1 .

Table 1: Complementary examinations performed.
TG-EDT: PUBLISHERS
Angel Miguel Aguiar Gonzalez; https://orcid.org/0000-0002-8227-363X

Based on the history, physical examination, and additional testing, the patient was diagnosed with juvenile dermatomyositis. Treatment was initiated with prednisone (5 mg), two tablets daily, methotrexate (2.5 mg), six tablets weekly, and folic acid (1 mg), one tablet daily except on the day of the methotrexate . A chest CT scan revealed hyperdense, calcific density images in the anterior wall of both hemithoraxes, indicating universal calcinosis. Electromyography revealed tibial nerve damage.

Following diagnosis, and due to the patient's condition, human gamma globulin was added to the treatment at a dose of 400 mg/kg for five days, in monthly cycles for 6 months.

Other therapeutic measures that were maintained were methotrexate and prednisone, nifedipine (10 mg) was added, a quarter of a tablet every 6 hours, and the use of ozone therapy.

The patient is being monitored regularly in the rheumatology outpatient clinic, and blood levels of liver and muscle enzymes have gradually normalized. Current treatment is with tocilizumab 162 mg once every 15 days, with good results.

Discussion

Juvenile dermatomyositis is an inflammatory disease that primarily affects muscles, skin, and blood vessels. It is reported to have a peak incidence between 5 and 10 years of age, with a predominance of females [7] . In the case presented here, the disease was also diagnosed at 10 years of age, but in a male, slightly similar to the reports by Chávez González et al. [8] and Álvarez Mena et al. [9] , in a girl aged 5 to 10 years, respectively, which is what is internationally reported as the most frequent age and sex of involvement.

Internationally, the presence of muscle weakness and dermatological lesions are described as the main clinical manifestations of the disease; these clinical data are consistent with those of the patient described.

The diagnosis is clinical and, classically, the classification criteria proposed by Bohan and Peter in 1975 [10], [11] have been used , based on: proximal and symmetrical muscular weakness of the pelvic girdle, elevation of serum muscular enzymes, electromyographic changes , characteristic muscular biopsy and characteristic skin lesions; for the definitive diagnosis, with a sensitivity and specificity of approximately 45-90 and 90%, there must be more than three criteria with characteristic skin lesions.

In 2017, the new classification criteria were published by the IMACS group ( The International Myositis Assessment and Clinical Studies ) , which include as a main novelty that, depending on whether the patient has a compatible biopsy or not, a different score is given and the corresponding probability of presenting a specific idiopathic inflammatory myositis. In addition, patients with pathognomonic skin lesions of JDM do not necessarily need a muscle biopsy to be classified [12] .

The diagnosis of the disease was made by confirming several criteria; in this case, the following were present: proximal and symmetrical muscle weakness, slow and progressive development, the presence of pathognomonic dermatological manifestations such as heliotrope rash and Grotton 's papules , and elevated liver and muscle enzymes. These three criteria, plus abnormalities in electromyography and muscle biopsy, are used in medical practice to diagnose the disease [13] .

Elevated liver and muscle enzymes are highly valuable diagnostic tools; a synovial biopsy was not possible in this case; however, elevated muscle enzymes (CPK and LDH) facilitate diagnosis, as these tests are more readily available than other methods. ANA is detected in 60% of patients, although these are not disease-specific [12] . In children, an association with anti-Mi-2 antibodies (5% of cases and associated with a good response to treatment), antisynthetase antibodies (5–25%, associated with an acute course and potential complications such as arthritis or interstitial lung disease), and anti-p155 or anti-TIF1 γ antibodies (20–30% of patients) has also been described [12], [14] .

For the treatment of the disease, the use of steroids and DMARDs is described as the main drugs [10], [11] . In this case, the administration of human gamma globulin was added, a therapeutic option described in this type of cases [13] . Antimalarials (hydroxychloroquine or chloroquine) have been classified as effective for the treatment of diseases that present with significant dermatological symptoms [15] .

Intravenous immunoglobulins (2 g/kg every 2 weeks, 3 doses) are used in cases of corticosteroid resistance or dependence and in refractory skin disease and are well tolerated [14] . Cyclophosphamide is considered in severely ill patients with skin ulcerations, gastrointestinal and pulmonary involvement [11], [12], [14] .

The prognosis of patients with juvenile dermatomyositis has changed significantly in the era of corticosteroids; mortality has decreased from 30% to 10% since their introduction. Currently, the global mortality rate is reported at 5–8%. Factors that play a determining role in mortality are the presence of antibodies against aminoacyl- tRNA synthetase , greater disease severity at diagnosis, greater weight loss during the course of the disease, and delayed diagnosis. [16] .

Conclusions

We present the case of an adolescent male with clinical and paraclinical features of juvenile dermatomyositis. The diagnosis was established based on clinical data combined with a series of complementary tests. He responded effectively to treatment with corticosteroids.

AUTHORSHIP CONTRIBUTION

JAGS: conceptualization-ideas, data curation, formal analysis, research, methodology, project administration, supervision, writing-original draft.

CGG: conceptualization-ideas, research, methodology, writing-review.

AHP: conceptualization-ideas, research, methodology.

ARR: conceptualization-ideas, research, methodology, writing-review.

CONFLICTS OF INTEREST

The authors declare that there are no conflicts of interest.

FINANCING

The authors did not receive funding for the development of this article.

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Copyright 2024 Jose Alfredo Gallego Sanchez1 et al.

Este es un artículo publicado bajo una licencia del Creative Commons