Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu valgum. Laboratory tests showed no other relevant findings. Conventional radiography plain films revealed Erlenmeyer flask deformity in bilateral femorotibial metaphyses, metaphyseal flaring of long bones, and mild sclerosis of the skull base. The clinicoradiological dissociation, along with the characteristic imaging findings, was consistent with the diagnosis of Pyle's disease. Intervention is not required in most cases, but orthopedic treatment may be required for genu valgum or fractures. Therefore, these cases emphasize the pivotal role conventional radiography plays in the correct diagnosis of this rare entity, allowing for appropriate genetic counseling.

Introdução: Gangrena digital pode ser secundária a trombose ou vasculite de pequenos vasos. Doença vascular periférica levando a gangrena digital é uma complicação bem descrita da síndrome antifosfolípide (SAF), podendo também ser uma forma rara de injúria vascular do lupus eritematoso sistêmico (LES). Tal distinção pode ser difícil, especialmente em pacientes com associação de ambas as doenças. Relato de caso: Uma menina de 12 anos, previamente hígida, é trazida ao pronto-socorro com histórico de três dias de lesões purpúricas nos membros inferiores e gangrena digital em todos os dedos do pé direito e no segundo, terceiro e quarto dedos da mão esquerda. Houve rápida progressão para gangrena em todos os dedos acima mencionados, além de ulceração e gangrena de lesões purpúricas. O ultrassom Doppler arterial dos quatro membros não evidenciou alterações. A ressonância magnética de encéfalo mostrou infartos lacunares de provável etiologia microembólica. Os achados laboratoriais incluíram tripla positividade em altos títulos de anticorpos antifosfolípides, FAN e anti-DNA, além de hipocomplementenemia, sugerindo o diagnóstico de LES e SAF castrotófica provável. A biópsia das lesões cutâneas revelou vasculite cutânea de pequenos vasos não leucocitoclástica, levando à hipótese de vasculite lúpica. Foram realizadas pulsoterapia com metilprednisolona, ​​imunoglobulina humana, vasodilatadores e anticoagulação. Devido à presença de vasculite lúpica, optou-se pelo uso de ciclofosfamida. Houve interrupção da evolução do quadro vascular, mas a paciente evoluiu com autoamputação de algumas falanges distais acometidas dos dedos do pé direito e da mão esquerda. Após seis doses de ciclofosfamida em esquema quinzenal, iniciou-se azatioprina, estando a paciente atualmente assintomática com escore SLEDAI igaul a zero. Conclusão: Gangrena digital é uma manifestação rara tanto do LES como da SAF, no entanto, pode haver evolução para amputação digital em um importante número de casos. Apesar da raridade da apresentação e da dificuldade de distinção diagnóstica, o reconhecimento e tratamento precoces de ambas as doenças são essenciais para a redução de morbimortalidade.

BACKGROUNDJuvenile localized scleroderma (JLS), also known as morphea, is a spectrum of rare inflammatory pediatric disorders associated with skin and underlying tissue thickening and sclerosis. Clinical manifestations range from skin lesions to extracutaneous involvement that often vary with its subtype. Early recognition is important to reduce disease-related functional impact. METHODSReview of medical records of children and adolescents with diagnosis of JLS from 2015 to May 2022 and regularly followed up in the Pediatric Rheumatology Unit of a tertiary hospital in the state of Ceará was performed. Data included demographics, clinical manifestations, treatment and disease course. RESULTSTwenty patients were included and 13 (65%) were female. The median age at onset, age at diagnosis and time elapsed from symptom onset to diagnosis were, respectively, 6.60 (2-16.4), 9.05 (3.2-17) and 2.45 (0-10.5) years. The most prevalent subtype was mixed morphea (35%), followed by linear form (25%). Involvement was predominantly appendicular, distributing in upper and/or lower limbs in 75%. Five patients had disease restricted to the face, two with en coup de sabre variant and three with Parry-Romberg syndrome. Most of the patients (75%) already had characteristics of long-standing skin disease at diagnosis. Seventeen patients (85%) had extracutaneous manifestations, with a predominance of joint involvement (arthritis/arthralgia of small joints of the hands, wrists and knees) in 13 (65%) of them, followed by gastrointestinal tract (20%). Autoantibodies were positive in 9 (45%) patients, of which ANA (78%) and RF (22%) were the most prevalent. Eighteen patients used corticosteroids at diagnosis, with an average of 8.5 months treatment, and a partial response in 15 (83.3%) of them. Methotrexate was associated in 19 cases, allowing 12 (63.1%) patients to achieve remission. In refractory cases (35%), six received mycophenolate mofetil and two cyclophosphamide. After approximately 3 years of follow-up, 85% of patients had good disease control. CONCLUSIONThe female-to-male ratio (1.85) and the age at onset of symptoms (6.60) are in line with literature (1.7:1 to 3.7:1 and 6.1 to 8.1, respectively). Our study differs in the higher prevalence of mixed morphea subtype in relation to the linear one. Time until diagnosis was long, with most patients presenting already with chronic skin changes, warning about the lack of knowledge about the disease. Immunosuppressive standard treatment, mainly with methotrexate and corticosteroids, shows promising results in controlling the disease progression.

BACKGROUNDLeprosy, a chronic infectious disease caused by Mycobacterium leprae, affects the skin, peripheral nerves, upper respiratory tract, musculoskeletal system and eyes. As it presents a wide spectrum of clinical manifestations, it can be a diagnostic challenge, especially in early stages of disease. Some of these manifestations resemble pictures of rheumatic diseases that affect adults and children. Among the musculoskeletal manifestations of childhood leprosy are inflammatory chronic arthritis, mimicking juvenile idiopathic arthritis or spondyloarthritis, inflammatory swelling of the hands and feet, neuropathic arthritis, septic arthritis, arthralgias/ myalgias, soft tissue rheumatism and multisystem involvement similar to collagenases, including vasculitis and myositis. CASE REPORTWe report the case of a previously healthy 8-year-old boy admitted to the pediatric rheumatology unity due to the presence of puffy hands and fingers and hard and shiny edema of the lower limbs, suggesting systemic scleroderma diagnosis. He had an 11-month history of recurrent episodes of intermittent fever, plaque-like, erythematous, nonpruritic facial skin lesions and joint pain in the knees and ankles. On physical examination, he presented, in addition to the aforementioned findings, purpuric lesions on the toes, hepatosplenomegaly, arthralgias (wrist, small joints of the hands, knees and ankles) and erythematous plaques infiltrated in the bilateral malar region, nasal region and auricular pavilion. Complementary tests showed normocytic and normochromic anemia, leukocytosis, neutrophilia, thrombocytosis, elevation of inflammatory tests and negativity of ANA, RF, ANCA, anti-RNP and anti-Scl70. Due to the infiltrated skin lesions, lymph smear testing was performed, which was strongly positive, and a diagnosis of Virchowian leprosy associated with mixed leprosy reaction was made. There was clinical and laboratory improvement after initiation of multidrug therapy and systemic corticosteroid therapy. CONCLUSIONLeprosy is known as a great mimic of rheumatic diseases, often fulfilling diagnostic criteria for many of them. The multibacillary forms present greater musculoskeletal involvement. It should be considered in differential diagnosis of children with musculoskeletal symptoms, autoantibody positivity and cutaneous and/or neurological involvement.

BACKGROUNDCatastrophic antiphospholipid syndrome (APS) is a severe acquired thrombophilia characterized by rapid development of thromboses in several organs, in presence of antiphospholipid antibodies. For histopathologic confirmation, thrombosis should be present without significant evidence of vessel wall inflammation. APS is a known association of systemic lupus erythematosus (SLE) and, when present with lupus, has the worst outcome. Peripheral vascular disease leading to digital gangrene is a well-recognized complication of APS, particularly in patients with SLE. Digital gangrene in SLE is a rare form of vascular injury and generally leads to digital amputation. CASE REPORTA previously healthy 12-year-old girl is brought to the emergency department because of a 3-day history of purpuric lesions in the lower limbs and digital gangrene in all right toes and in the second, third and fourth fingers on the left hand. She had rapid progression to gangrene in all the aforementioned digits and ulceration and gangrene of purpuric lesions. Arterial Doppler ultrasound of the four limbs showed no changes. Brain magnetic resonance imaging (MRI) showed lacunar infarcts of probable microembolic etiology. Laboratory findings included triple positivity in high titers of antiphospholipid antibodies, ANA and anti-DNA and hypocomplementemia, suggesting SLE and probable catastrophic APS diagnosis. Biopsy of skin lesions showed nonleukocytoclastic cutaneous small vessel vasculitis, leading to the hypothesis of lupus vasculitis. Methylprednisolone pulse therapy, human immunoglobulin, vasodilators and anticoagulation were performed. Due to the presence of lupus vasculitis, it was chosen to use cyclophosphamide. There was a halt in the progression of the vascular condition, but the patient evolved with self-amputation of some of the affected distal phalanges of the right toes and the left hand. After six doses of cyclophosphamide in a biweekly schedule, azathioprine was started, and the patient is currently asymptomatic with a SLEDAI-2K score of zero. CONCLUSIONDigital gangrene may be secondary to thrombosis or small vessel vasculitis. This distinction can be difficult, especially in patients with lupus-associated antiphospholipid syndrome. Only 0.2% of patients with SLE presented initially as digital necrosis and less than 10% of pediatric APS patients present with small-vessel thrombosis. Despite the rarity of presentation and the difficulty in distinguishing the diagnosis, early recognition and treatment of both diseases are essential to prevent progression and reduce their morbidity and mortality.

No abstract

BACKGROUNDJuvenile spondyloarthritis is a chronic inflammatory disease that mainly affects boys over the sixth and under the 18 th year of life, accompanied by overlapping genetic susceptibility. It usually courses with arthritis, which is most commonly asymmetric, oligoarticular, involving the lower extremity large joints, associated with enthesitis, and may also progress with axial disease, especially sacroiliitis. In refractory cases, use of immunobiologicals of the tumor necrosis factor inhibitors (TNFi) class is mandatory. An increased risk infection is observed in patients undergoing biological treatment, including mycobacterial, fungal and viral infections. CASE REPORTA 17-year-old boy was previously diagnosed with juvenile spondyloarthritis 5 years ago with a history of chronic oligoarthritis of the lower limbs, including tarsitis, positive HLA-B27 and family history of ankylosing spondylitis, currently in use of adalimumab due to refractoriness to traditional disease-modifying antirheumatic drugs. He was admitted to the pediatric rheumatology ward due to worsening of joint condition and loss of 11 kg for 3 months. He was febrile, pale, with arthritis of the knees and ankles and deformity with rigid flat feet and flexion of toes. Complementary exams showed microcytic anemia, thrombocytosis and elevation of inflammatory tests. Initial infectious and neoplastic screening was negative, including tuberculin skin test. Tomography of chest and abdomen showed multiple calcified nodules in the hilum and paratracheal, mediastinal and subcarinal chains, pulmonary opacification suggestive of a tree-in-bud pattern, multiple foci of calcification in the liver and splenic parenchymas. Left ankle and knee magnetic resonance imaging (MRI) showed small oval lesions with postcontrast peripheral enhancement, identified in different bones of the ankle and in the anterior aspect of the tibia and fibula suggestive of dot circle sign. After discussion with an infectiologist, a hypothesis of disseminated fungal disease was raised. Serology for histoplasmosis was positive, amphotericin B deoxycholate was started with a good response and the use of adalimumab was discontinued.

Introdução: A histoplasmose é uma das micoses endêmicas mais prevalentes das Américas. Causada pelo Histoplasma capsulatum, acomete tanto pacientes imunocompetentes quanto imunossuprimidos após a inalação de micélios contidos no solo e em dejetos de aves e morcegos. Na infância, a apresentação clínica pode variar desde quadros assintomáticos até doença multissistêmica grave. Pacientes em uso de terapia imunobiológica anti-TNF, amplamente utilizada nas doenças reumatológicas, estão mais suscetíveis à infecção pelo H. capsulatum, uma vez que o TNF desempenha um papel crítico na resposta imune do hospedeiro. O tratamento da doença em sua forma disseminada envolve antifúngico inicialmente endovenoso e posteriormente oral, por tempo mínimo de um ano, além de suspensão de terapia imunobiológica até eliminação do fungo. Relato de caso: Adolescente de 17 anos com diagnóstico de espondiloartrite juvenil há cinco anos e em uso de terapia anti-TNF com adalimumabe há dois anos, foi admitido na enfermaria de reumatologia pediátrica de um hospital terciário por piora do quadro articular nos últimos três meses, associada a perda ponderal de 11 kg no período, além de palidez e tosse há 1 semana. Exames complementares mostraram anemia, leucocitose e plaquetose, elevação de provas inflamatórias, com pesquisa para tuberculose, sorologias virais e investigação para doenças neoplásicas negativas. Ultrassonografia abdominal flagrou granulomas esplênicos calcificados; tomografias computadorizadas de tórax e abdome total mostraram múltiplos nódulos calcificados em hilo e cadeias paratraqueais, mediastinais e subcarinais, além de múltiplos focos de calcificação em parênquimas hepático; e ressonância nuclear magnética de tornozelos evidenciou múltiplas lesões ovalares em ossos de tornozelo, tíbia e fíbula compatíveis com a hipótese de doença granulomatosa. Por fim, apresentou sorologia para histoplasmose com positividade da Banda M corroborando para o diagnóstico de histoplasmose disseminada. Foi suspensa terapia imunobiológica e iniciada terapia antifúngica com boa resposta clínica e laboratorial. Conclusão: O TNF possui papel essencial na resposta imune ao Histoplasma capsulatum e a histoplamose vem tendo cada vez mais importância na reumatologia por conta do uso de agentes biológicos, principalmente da classe anti-TNF. Por vezes, com manifestações clínicas inespecíficas ou que mimetizam outras doenças infecciosas ou neoplásicas, deve haver elevada suspeição diagnóstica para o reconhecimento precoce e tratamento adequado, além da suspensão da terapia imunossupressora, evitando assim desfechos desfavoráveis dessa micose.