Adult onset Still disease is a rare multisystemic autoinflammatory pathology of unknown etiology. Its clinical picture is very diverse, including fever, evanescent maculopapular rash and elevated inflammatory biomarker. It is associated with diseases such as arthritis, rheumatic fever, rheumatoid arthritis.

We present the case of a woman with clinical and laboratory data that met the Yamaguchi classification criteria for adult-onset Still disease who was successfully treated with corticosteroids and methotrexate.

• Adult-onset still disease; Arthritis; Fever

Efraín S, Wilma V, Carla R, Bedón R, Eduardo V, et al. (2024) Still’s Disease of the Adult. J Dermatolog Clin Res 12(2): 1161.

HIV: Human Immunodeficiency Virus; HCV: Human C Virus; BUN: Blood Ureic Nitrogen; Enzyme URO-D: Enzyme Decarboxylated Urobilinogen; IgA: Inmunoglobuline A; IgG: Inmunoglobuline G; IgM: Inmunoglobuline M

Adult-Onset Still Disease (AOSD) is a rare, multisystem inflammatory disease of unknown etiology characterized by intermittent high fever, evanescent rash and polyarthritis [1].

There is little epidemiological data on the disease; a French retrospective study estimated the annual incidence of Still’s disease in adults to be 0.16 cases per 100,000 people [2].

Because of its low frequency and the absence of a specific diagnostic test, it is considered a diagnosis of exclusion. Several classification criteria have been proposed for diagnostic support, however, the most widely used are the Yamaguchi classification criteria (Table 1) which allow an appropriate diagnostic approach with a sensitivity of 96.2% and a specificity of 92.1% [3].

Table 1: Yamaguchi classification criteria for adult still's disease.

A 39-year-old woman with history of: Diabetes mellitus type 2, presented with polyarthritis, which had started in the left ankle 22 days ago, and progressively involved the knee, wrist, right carpus, shoulders, asymmetrically accompanied by fever (39º C), predominantly in the morning, general malaise, odynophagia and erythematous and pruritic skin lesions that started in the upper extremities and spread to the thorax and thighs (Figure 1). During episodes of fever, joint pain intensified and the dermal rash was more evident.

Figure 1: A). Symmetrical disseminated dermatosis on the anterior chest, abdomen, upper and lower extremities characterised by erythematous-violaceous maculopapules with regular borders, indurated, painful on palpation. B,C: Close-up of the lesions.

Laboratory values: Leukocytes: 25,000 mm3, Neutrophils: 91.8%, Hemoglobin: 12.2 g/dl, Hematocrit: 37.5%, Platelets: 297,000 mm3 , Creatinine: 1.2 mg/dl, Glucose: 192 mg/dl, Rheumatoid factor: negative, C-reactive Protein: 19.47 mg/dl, Erythrocyte Sedimentation Rate: 28 mm/h, Blood Cultures: no bacterial growth.

Anti-nuclear antibodies, anti-double-stranded DNA, anti cyclic citrullinated peptide were negative, complement fractions C3 and C4 levels were normal, Serum Ferritin: 2,000 mg/ml. Abdominal ultrasound revealed splenomegaly.

Dermatopathology demonstrated epidermis with discrete acanthosis, spongiosis, dyskeratosis, dermis with superficial perivascular inflammatory infiltrate and areas of karyorrhexis (Figure 2).

Figure 2: A,B: Epidermis shows discrete acanthosis, spongiosis, dyskeratosis, in the dermis there is a significant superficial perivascular inflammatory infiltrate composed of lymphocytes, occasional eosinophils, polymorphonuclear areas of karyorrhexis and occasional extravasation of erythrocytes

The definitive diagnosis was AOSD, as she fulfilled 4 major and 3 minor Yamaguchi criteria. She was treated with prednisone (1mg/kg/day in a descending pattern) and methotrexate (15 mg weekly), in addition to topical betamethasone 0.05% on the skin lesions. Fever and arthritis subsided within 72 hours and the dermal lesions resolved after two weeks.

AOSD is a multisystem inflammatory disease of unknown etiology. It is believed that in a genetically predisposed individual, an infectious agent triggers a generalized inflammatory state, in which several cytokines predominate such as: interleukin (IL)- 1, IL-6, IL-8, interferon gamma, tumor necrosis factor, among others [4].

The clinical condition of our patient coincides with the description of published case series of AOSD. The most frequent clinical manifestations of the disease are fever (100%), arthritis (93%), rash (84%) and odynophagia (38%). Most patients have leukocytosis with neutrophilia (81%) and in all cases there is elevated C-reactive protein and erythrocyte sedimentation rate [5].

In South America, Carreño et al describeD a series of 20 Chilean patients with AOSD, most of whom (80%) had marked elevation of serum ferritin >1000 mg/ml and prevalence of splenomegaly of about 40% [6].

There is no specific test for the disease, but elevation of total serum ferritin and its glycosylated fraction may provide further diagnostic specificity. The combination of a five-fold or greater elevation in serum ferritin and a glycosylated fraction of ≤ 20% has a sensitivity of 43% but a relatively high specificity of 93% [7].

In patients with mild clinical manifestations such as fever, rash or arthralgias, initial treatment with non-steroidal anti- inflammatory drugs is suggested. In patients with severe clinical manifestations, such as disabling joint pain, treatment with systemic corticosteroids in combination with methotrexate is necessary. When there is no response to the maximum tolerated dose of methotrexate, the therapeutic options are biologic drugs: such as IL-1 receptor antagonists (Anakinra), IL-6 receptor antagonists (Tocilizumab), or tumour necrosis factor antagonists (Infliximab) [8].

Due to the rarity of the disease, direct evidence of treatment efficacy has not been obtained from clinical trials, and therapeutic recommendations are based on observational studies, case series and expert recommendation.

This is the first case report of an Ecuadorian woman whose clinical features and laboratory findings are consistent with described cases of AOSD. In patients with atypical arthritis, it is necessary to consider this pathology, even more so if accompanied by skin rash and systemic involvement. Therefore, a proper differential diagnosis with infectious, neoplastic, autoimmune and systemic autoinflammatory pathologies should be made, emphasizing the need for interdisciplinary work between the specialties physicians of Internal Medicine and Dermatology.

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