RESUMO
Borrelia-specific antibodies in serum did not contribute to the diagnosis of Borrelia arthritis or Borrelia-associated dermatitis in a young woman with ongoing treatment with rituximab due to multiple sclerosis. The diagnosis was confirmed by the detection of Borrelia-DNA in a skin punch biopsy. The patient history did not reveal any tick exposure. She had suffered for several months from fluctuating pain and swelling of the right knee as well as skin involvement with redness and oedema around the ankle of the same leg. Monoarthritis was confirmed by a rheumatologist. Knee puncture was performed but the synovial fluid was only sufficient for microscopic examination of crystals. Neither monosodium urate crystals nor calcium pyrophosphate crystals were found. Borrelia serology in blood revealed borderline levels of immunoglobulin (Ig)M and IgG, respectively. Treatment with doxycycline resulted in resolution of the joint and skin manifestations within a month. This case highlights that Borrelia-specific antibody levels cannot be reliably interpreted in patients who have received B-cell depleting therapy. Under these circumstances, detection of the bacterial genome in different body fluids, such as in the skin, can be a useful complement to the diagnosis of Lyme disease. In this young female, the diagnosis would certainly have been further delayed without the detection of Borrelia-DNA in the skin.
RESUMO
Specific gene mutations leading to dysregulation of innate immune response produce the expanding spectrum of monogenic autoinflammatory diseases (AIDs). They are characterized by seemingly unprovoked, recurrent episodes of systemic inflammation in which a myriad of manifestations usually affect skin. Novel genetic technologies have led to the discovery of new AIDs and phenotypes that were not previously clinically described. Consequently the number of AIDs is continuously growing and their recognition and the disclosure of their pathophysiology will prompt early diagnosis and targeted treatment of affected patients. The objective of the present work is to review those newly described AIDs with prominent dermatologic manifestations that may constitute a major criterion for their diagnosis.
Assuntos
Doenças Hereditárias Autoinflamatórias , Doenças Autoimunes , Criança , Dermatologia , Doenças Hereditárias Autoinflamatórias/complicações , Doenças Hereditárias Autoinflamatórias/patologia , Humanos , Imunidade Inata , Inflamação , Fenótipo , PeleRESUMO
UNLABELLED: Cutaneous leishma iasis (CL) is zoonosis with a spectrum of cutaneous manifestations caused by protozoan parasites of thegenus Leishmania.Manifestation varies according to the parasite virulence and the host immune response. Pentavalent antimonials (sodium stibogluconate and meglumine antimoniate) have been used as a first-line therapy for the last 70 years around the world.We report a case of a 1-year-old boy with two small yellowish papules mimicking juvenile xantogranuloma diagnosed with cutaneous leishmaniasis after a biopsy. Patient underwent treatment with 2 sessions of intralesional (IL) meglumine antimoniate (Glucantime®) with complete clearance of both lesions. CONCLUSION: Cutaneous leishmaniasis treatment is difficult to standardize; treatment options in children include wound careand watchful waiting, intralesional pentavalent antimonials, topical paramomycin, or oral miltefosine.