|Year : 2021 | Volume
| Issue : 4 | Page : 333-335
Muscle weakness in a 4-year-old girl: A rare presentation of deep morphea
Mary Augustine, Sumedha Ballal
Department of Dermatology, St John's Medical College Hospital, Bengaluru, Karnataka, India
|Date of Submission||06-Apr-2020|
|Date of Decision||07-May-2020|
|Date of Acceptance||01-Jun-2021|
|Date of Web Publication||01-Oct-2021|
Department of Dermatology, St. John's Medical College Hospital, Sarjapur Road, Bengaluru - 560 034, Karnataka
Source of Support: None, Conflict of Interest: None
Introduction: Morphea is a rare fibrosing disorder of the skin and underlying tissues. Deep morphea involves the deep dermis, subcutis, fascia, muscle, and bone. The above structures may be involved independently or in combination. Case report: We describe a case of deep morphea presenting as muscle weakness, independent of skin lesions, in a child with generalized morphea. Discussion: Muscle weakness, even in the absence of overlying or progressive skin sclerosis, can be deep morphea, especially when segmental and associated with atrophy.
Keywords: Muscle weakness, scleroderma localized, atrophy, collagen, child
|How to cite this article:|
Augustine M, Ballal S. Muscle weakness in a 4-year-old girl: A rare presentation of deep morphea. Indian J Paediatr Dermatol 2021;22:333-5
|How to cite this URL:|
Augustine M, Ballal S. Muscle weakness in a 4-year-old girl: A rare presentation of deep morphea. Indian J Paediatr Dermatol [serial online] 2021 [cited 2021 Dec 6];22:333-5. Available from: https://www.ijpd.in/text.asp?2021/22/4/333/327454
| Introduction|| |
Morphea (localized scleroderma [LS]) is a rare fibrosing disorder of the skin and underlying tissues. Pediatric morphea has an incidence of 2.7 per 100,000 children per year; more prevalent in females, with a mean age of onset between between six and nine years.
According to the Pediatric Rheumatology European Society (PReS), there are five subtypes of morphea: linear morphea (LM), circumscribed morphea (CM), mixed morphea (MM), generalized morphea (GM), and pansclerotic morphea (PM); LM is the most frequent subtype, followed by PM, MM, GM, and DM.
| Case Report|| |
A four-year-old girl presented to a neurologist with weakness of the left shoulder of eight months duration. There was no history of any systemic medication, recent illness, intramuscular injections, or trauma. The patient had received immunizations appropriate for age, and there was no history of recent immunization. Examination revealed atrophy of the shoulder muscles with a muscle power of 2/5. Differential diagnoses considered were focal myopathies and brachial plexus injury. The patient had a history of hyperpigmented patches on the body for 2 years, which were not progressive at the time of the muscle weakness or after that. She was treated with topical Vitamin D3 analogs for the same. Dermatological examination showed multiple atrophic, indurated, hyperpigmented plaques over the trunk [Figure 1], neck [Figure 2], and limbs with linear lesions over the left forearm and left foot [Figure 3]. The skin overlying the affected muscles was, however, normal. The general physical examination was noncontributory. Nerve conduction studies were normal. Magnetic resonance imaging (MRI) did not reveal any cord pathology. However, MRI of the muscles showed fatty atrophy of the supraspinatus, infraspinatus, and posterior part of deltoid and distal fibers of biceps on the left side. Biopsy of the patches revealed dense homogenized bands of collagen in the dermis with perivascular and periadnexal lymphocytic infiltrate, consistent with morphea [Figure 4]. Routine investigations showed a hemoglobin of 12.9 g/dl, total leukocyte count of 7.29 × 103/μl (50% neutrophils, 44% lymphocytes, 4% eosinophils, 2% monocytes), platelet count of 365 × 103/μl, normocytic normochromic peripheral smear with relative neutrophilia, and an elevated erythrocyte sedimentation rate of 43 mm/h. A mild elevation of aspartate aminotransferase (49 U/L) with normal alanine aminotransferase (23 U/L) and alkaline phosphatase (203 U/L) was noted in liver function tests. Serum lactate dehydrogenase was mildly elevated (286 U/L) but serum creatinine kinase was normal (147 U/L). Antinuclear antibodies (ANAs) were detected, in a homogenous pattern. Moderate positivity to anti-double-stranded DNA (ds DNA) and anti-histone (AHA) antibodies was noted. With the skin lesions of morphea and the MRI findings of muscle atrophy in the absence of nerve pathology, a diagnosis of mixed morphea was made. The child was given a course of steroids (1 mg/kg body weight, for three months). She was also started on hydroxychloroquine and methotrexate (10 mg/week), along with physiotherapy. After year, the skin lesions have softened, and the muscle power has improved from 2/5 to 4/5.
|Figure 3: Linear hyperpigmented atrophic plaque over the dorsum of the left foot|
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|Figure 4: Histopathology demonstrating homogenization of collagen in the dermis along with a perivascular and periadnexal lymphocytic infiltrate, consistent with morphea [Hematoxylin and Eosin x40]|
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| Discussion|| |
Clinical forms of morphea according to the PReS classification include LM, CM, MM, GM, and PM.
Our patient is a case of MM with linear and circumscribed lesions, also fulfilling the generalized category criteria.
In morphea, muscle involvement can precede skin manifestations or/and may occur at sites unrelated to the skin lesions. Böckle et al. reported an adult presenting with weakness of the extensors of the left upper limb, followed by linear induration of the right hand and forearm, three years later, suggestive of LM. On the contrary, Voermans et al. reported a young adult who continued to have progressive muscle weakness three years after the skin disease became inactive, which suggests that disease activity of the skin may not correspond to that of the muscles.
In our case, the skin disease was nonprogressive at the onset of muscle weakness, and the skin overlying the affected muscles was clinically normal.
MRI of the muscles showed fatty atrophy of the muscle bellies of the left shoulder girdle, consistent with deep morphea. Given the age of the patient, invasive tests such as electromyography and muscle biopsy were deferred. MRI offers the advantages of being noninvasive and readily repeatable. MRI shows a wide range of muscle abnormalities in morphea, including fascial thickening around muscle groups, muscle inflammation, muscle atrophy, and fat infiltration. These changes may be seen even at sites distant from the skin lesions. MRI has detected musculoskeletal involvement in morphea, even when clinically not suspected or apparent. A recent study by Abbas et al., on comparison of MRI and clinical assessment using modified localized scleroderma skin severity index (mLOSSI) in deep morphea, showed that MRI revealed clinically occult muscle involvement, and mLOSSI scores did not correspond to features of activity on MRI. This highlights the inaccuracy of classifying lesions as inactive, using the mLOSSI alone, particularly in deep morphea. Muscle biopsy, in addition to being invasive, also has a risk of sampling error. Electromyography can be used to detect spontaneous activity to evaluate the effect of treatment. Ultrasound and MRI are useful in monitoring disease progression and selecting optimal site for biopsy.
These patients may have personal or family history of autoimmune diseases and multiple autoantibodies, especially ANA, AHA, and anti-single-stranded antibody (ss-DNA). ANA is associated with early disease and extracutaneous involvement, whereas higher titers of AHA and ss-DNA correlate with severe disease.
Our patient had active disease (progressive deep tissue involvement; documented by MRI), and moderately high levels of AHA and ds DNA, all of which warrant systemic treatment.,, Early systemic treatment may prevent end-stage myopathy and contractures.
Muscle weakness, even in the absence of overlying or progressive skin sclerosis, can be seen in deep morphea, especially when segmental and associated with atrophy. This can easily mimic several neuromuscular disorders. MRI of the muscles is a reliable noninvasive test and should be considered if there is no evidence of a neurological cause.
We would like to acknowledge Dr. Thomas Mathew, Professor and Head, Department of Neurology, St John's Medical College Hospital, Bangalore.
Declaration of consent
The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s) of the patient. In the form the parent(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]