A Case of Juvenile Dermatomyositis Presenting with Inverse Gottron’s Papules: A Case Report

Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy in children. It is characterized by various cutaneous manifestations and skeletal muscle inflammation [1, 2]. The pathognomonic cutaneous findings of dermatomyositis (DM) are heliotrope rash (periorbital erythema with edema), Gottron’s sign (erythematous macules or patches over the extensor elbows, knees, knuckles, and ankles), and Gottron’s papules (erythematous to violaceous scaly papules and plaques particularly over the metacarpophalangeal joints, proximal interphalangeal (PIP) joints, and/or the distal interphalangeal joints). Characteristic findings include nail-fold changes, shawl sign, V sign, holster sign, and scalp erythematous scaly plaques. Features compatible with DM are poikiloderma, periorbital edema, and facial swelling. Other less common features that are seen more frequently in JDM are cutaneous vasculitis and calcinosis cutis [3].

In rare cases, patients with DM may exhibit erythema or papules on the palmar surfaces of the hands. This manifestation is known as inverse Gottron’s papules (IGPs) and has been reported in association with interstitial lung disease (ILD) [4, 5]. However, the literature currently available on this finding in children is limited. Our report describes an instance of IGP in JDM in a Saudi patient.

A 5-year-old girl presented to the hospital with a history of progressive bilateral eyelid erythema and edema for 3 months. One month before presentation, the patient developed a mild erythematous rash over the face, painful palmar papules, and proximal muscle weakness manifesting as difficulty in sitting on the floor, difficulty in standing up from the sitting position, and difficulty in going up and down stairs. Additionally, the patient experienced mild intermittent fever, decreased appetite, and joint pain for 2 months with no swelling or morning stiffness. The patient also experienced intermittent abdominal pain with no reported vomiting, diarrhea, or hematochezia. There was no history of night sweats, significant weight loss, chest pain, palpitations, cough, shortness of breath, hematuria, headache, seizures, psychosis, or numbness. The family history of autoimmune connective tissue disease was negative.

On exam, the patient was found to have upper and lower eyelid erythema with mild edema and a few scattered petechiae, atrophic pink to hypopigmented macules over the upper eyelids, and scaling (heliotrope sign) (see Fig. 1). Also, atrophic hypopigmented papules with peripheral erythema over the distal interphalangeal joint (DIP) of the dorsal hands (Gottron’s papules), erythematous macules and patches with mild scaling and excoriation marks over the dorsal hands’ metacarpophalangeal joints, PIP joints and elbows (Gottron’s sign), and bilateral tender erythematous papules overlying the PIP and DIP joints over the palmar surface of the hands (inverse Gottron’s sign) were observed (see Fig. 2). A dermoscopic examination of the nailfold revealed ragged cuticles and no dilated capillaries were appreciated. Notably, the patient did not have a shawl sign, V sign, holster sign, oral ulcers, gingival telangiectasia, calcinosis cutis, cutaneous ulceration, lipoatrophy, or scalp involvement.

The laboratory investigations revealed an unremarkable complete blood count/differential except for white cell count 3.07 × 10³/μL (N: >4.30 to <11.30 × 10³/μL), and normal renal function tests, except for protein/urea ratio 0.1480 g/L (N: ≤0.1400). Hepatic function panel showed high levels of alanine transaminase 138 U/L (N: 0.00–55.00), aspartate transaminase 445 U/L (N: 5.00–34.00), lactate dehydrogenase 520 U/L (N: 125.00–220.00), normal total bilirubin 6.30 μmol/L (N: 6.10–15.30), and low alkaline phosphatase 128 U/L (N: 156.00–369.00). Other laboratory tests showed triglyceride 2.38 mmol/L (N: ≤1.70), LDL 2.75 mmol/L (N: <2.60), HDL 0.31 mmol/L (N: >1.55), cholesterol 3.580 mmol/L (N: ≤4.400), random glucose 3.70 mmol/L (N: 3.90–7.70), CRP 0.5 mg/L (N: ≤5.0), ESR 30 mm/h (N: 0–30), negative antinuclear antibody, negative anti-double stranded DNA antibody, rheumatoid factor <7.00 IU/MI (N: ≤12.50), C3 1.13 g/L (N: 0.9–1.8), and C4 0.52 g/L (N: 0.10–0.40). Muscle enzymes revealed elevated total creatine kinase of 162 U/L, myoglobin 69 μg/L (N: <47.00), and aldolase 11.0 U/L (N: 3.4–8.6). The myositis-specific antibodies MDA5 and Ro-52 were positive. High-resolution computed tomography (HRCT) of the chest revealed minimal dependent atelectasis, but no signs of ILD. Whole-body magnetic resonance imaging revealed bilateral upper limb subcutaneous edema with generalized myositis, observed most significantly at the pelvis and thigh muscles, with the overall findings suggestive of DM. No diagnostic challenges were faced.

The patient was diagnosed with JDM and initiated on intravenous methylprednisolone 30 mg/kg/day for 3 days followed by oral prednisolone 2 mg/kg/day for 2 weeks and then tapering by 3 mg every 2 weeks. She was also started on topical corticosteroid cream (mometasone furoate) twice daily over the active body lesions followed by tacrolimus 0.03% ointment twice daily. For the eyelids, the patient applied pimecrolimus 1% cream twice daily. A 1-month follow-up visit in the rheumatology outpatient department revealed good adherence to management and significant improvements in the patient’s condition especially the weakness and skin lesions. Notably, the patient failed to maintain follow-up with dermatology.

DM has various cutaneous manifestations, including heliotrope rash, Gottron’s papules, and Gottron’s sign, which are considered pathognomonic. The cutaneous findings of DM were classified into pathognomonic, characteristic, compatible, less common, rare, and nonspecific by DeWane et al. [3]. Hence, the characteristic findings include periungual changes (erythema, dilated capillary loops, cuticular hemorrhages, or overgrowth), shawl sign (violaceous erythema across the nape of the neck to the posterior shoulders and upper back), V neck sign (violaceous erythema seen in the V area of the neck and the upper chest), holster sign (symmetric poikiloderma of the hips and lateral thighs just below the greater trochanter), scalp involvement (atrophic erythematous scaly plaques that are sometimes pruritic). Poikiloderma (hypopigmentation, hyperpigmentation, telangiectasia, and atrophy usually over the upper chest and lateral upper arms), and periorbital edema and facial swelling are compatible with DM. Cutaneous less common features include vesiculobullous, necrotic, or ulcerative lesions; cutaneous vasculitis; and calcinosis cutis (the two latter features are seen more commonly in JDM). Rarely, mechanics hand (hyperkeratosis, scaling, and fissuring of the fingers and/or palms), deck chair sign (erythema sparing transverse skin folds), flagellate erythema, follicular hyperkeratosis, panniculitis, mucinosis, erythroderma, and oral mucosal changes can be seen [3]. Nonspecific findings comprise Raynaud’s phenomenon, nonscarring diffuse alopecia, and malar erythema [3, 6].

Gottron’s papules are commonly found on the dorsum of the metacarpophalangeal and interphalangeal joints, as over the wrist, elbow, and knee joints [7, 8]. Other rarely reported sites are the extensor forearm [9] and palmar creases [4]. Gottron’s papules over the palmar creases were given the name “IGP” by Quinter et al. [4] to differentiate these papules located on the palmar surfaces from other types of lesions. A review of the literature on IGPs in JDM revealed only 10 cases in children [4, 8, 10‒12], 2 of which were adolescents aged 16 years old [11, 12].

IGPs were found in conjunction with other cutaneous manifestations of DM in most of the reported cases of DM similar to our patient. However, Mao et al. [13] reported a case of DM in a 43-year-old male where IGP presented as the sole initial skin finding, with no accompanying dermatological lesions, thus leading to an initial misdiagnosis.

IGPs have been observed to occasionally exhibit flat-topped, lichenoid papules with a linear or triangular shape [4, 8, 12]. Furthermore, a proclivity toward interphalangeal joints has been noted in all the reported cases of JDM [4, 8, 10‒12], and interestingly, one case reported Gottron’s papules occurring over the radial aspect of index fingers [8]. Bishnoi et al. [12] reported a unique finding of extended Gottron’s papules presenting as erythematous to violaceous scaly plaques over the flexural aspects of the wrists, bilateral cubital fossa, axillae, popliteal fossae, and abdominal folds. Additionally, IGP may have atrophy [8, 12] and exhibit overlying hyperkeratosis [10]. In our patient, the palmar papules had a distinctive morphology of multiple tender erythematous round papules with mild atrophy overlying the PIP and DIP joints over the palmar surface of the hands.

Sasaki et al. [5] reported an association between palmar papules and ILD in adults with DM. Another study found a correlation between rapidly progressive ILD and the presence of a specific antibody targeting a 140-kDa polypeptide [13]. However, the reason for this association is unclear [4]. Many studies in adults with DM have observed a correlation among the presence of palmar Gottron papules, the presence of anti-MDA-5 (melanoma differentiation-associated gene-5) antibodies, and the development of ILD [8]. Our patient did not show evidence of ILD on the HRCT chest. In a review of all reported cases of palmar Gottron’s papules in children with JDM, 5 of 10 patients were found to have ILD [4, 8, 14]; however, a chest computed tomography scan was not conducted by Prithvi et al. [10]. The level of anti-MDA in JDM patients with IGPs was only assessed by Anjani et al. [11], showing positivity and ILD disease features on HRCT of the chest.

Histopathological examinations of palmar papules have revealed variable changes in different reports. Skin biopsy from IGP, as reported by Bishnoi et al. [12], showed the presence of melanin incontinence, basal cell vacuolization, inflammatory cell infiltrate, and hyperkeratosis. However, in another reported case [4], skin biopsy revealed a superficial lymphocytic infiltrate without interface changes or mucin deposition.

Our differential diagnosis included JDM, systemic lupus erythematosus, and mixed connective tissue disease. However, the patient’s muscle weakness, elevated muscle enzymes, pathognomonic skin lesions, positive anti-MDA5 antibodies, and negative anti-double-stranded DNA antibody, along with magnetic resonance imaging findings of myositis, strongly supported a diagnosis of JDM, our provisional diagnosis.

In our case, intravenous methylprednisolone at a dose of 30 mg/kg/day for 3 days was initiated by the rheumatology team as a first-line therapy to rapidly control inflammation, particularly due to the patient’s significant muscle weakness and elevated enzymes, hallmark features of active JDM. This was followed by oral prednisolone (2 mg/kg/day) with a gradual tapering regimen to maintain disease control while minimizing long-term corticosteroid side effects. Limitations to our study included the inability to conduct a skin biopsy for our patient due to the refusal of the parents.

IGPs are an uncommon cutaneous manifestation of DM, which are reported more commonly in adults than children with DM, and have a clear association with ILD in adult patients. The data from pediatric patients with JDM have shown a correlation between IGPs and ILD. Thus, patients with JDM and IGPs should be investigated for ILD due to the impact it may have on their management and prognosis. To our knowledge, our patient represents the first reported case of JDM with IGPs in Saudi Arabia. The CARE Checklist has been completed by the authors for this case report, attached as online supplementary material (for all online suppl. material, see https://doi.org/10.1159/000544816).

The ethical approval is not required for this study in accordance with local/national guidelines. Written informed consent was obtained from the parents of the patient for publication of the details of their medical case and any accompanying images.

The authors have no conflicts of interest to declare.

This study was not supported by any sponsor or funder.

Renad AlKanaan: writing of the manuscript. Iman I. Nazer and Monira AlNasser: writing and editing of the manuscript. All authors approved the version of the manuscript to be published.

No data have been submitted to any open-access databases. All data supporting the study are presented in the manuscript or available upon request. Further inquiries can be directed to the corresponding author.