Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient.

PURPOSE: CARD9 deficiency is an inborn error of immunity that predisposes otherwise healthy humans to mucocutaneous and invasive fungal infections, mostly caused by Candida, but also by dermatophytes, Aspergillus, and other fungi. Phaeohyphomycosis are an emerging group of fungal infections caused by dematiaceous fungi (phaeohyphomycetes) and are being increasingly identified in patients with CARD9 deficiency. The Corynespora genus belongs to phaeohyphomycetes and only one adult patient with CARD9 deficiency has been reported to suffer from invasive disease caused by C. cassiicola. We identified a Colombian child with an early-onset, deep, and destructive mucocutaneous infection due to C. cassiicola and we searched for mutations in CARD9. METHODS: We reviewed the medical records and immunological findings in the patient. Microbiologic tests and biopsies were performed. Whole-exome sequencing (WES) was made and Sanger sequencing was used to confirm the CARD9 mutations in the patient and her family. Finally, CARD9 protein expression was evaluated in peripheral blood mononuclear cells (PBMC) by western blotting. RESULTS: The patient was affected by a large, indurated, foul-smelling, and verrucous ulcerated lesion on the left side of the face with extensive necrosis and crusting, due to a C. cassiicola infectious disease. WES led to the identification of compound heterozygous mutations in the patient consisting of the previously reported p.Q289* nonsense (c.865C > T, exon 6) mutation, and a novel deletion (c.23_29del; p.Asp8Alafs10*) leading to a frameshift and a premature stop codon in exon 2. CARD9 protein expression was absent in peripheral blood mononuclear cells from the patient. CONCLUSION: We describe here compound heterozygous loss-of-expression mutations in CARD9 leading to severe deep and destructive mucocutaneous phaeohyphomycosis due to C. cassiicola in a Colombian child.

Sarcoidosis cutánea / Cutaneus sarcoidosis

La sarcoidosis en una enfermedad granulomatosa que puede afectar casi cualquier órgano. Se presenta más frecuentemente entre la tercera y la cuarta década de la vida y hasta el momento su etiología es desconocida, aunque se sugiere que factores ambientales, exposición a algunos microrganismos y la predisposición genética pueden ser importantes en su desarrollo. La piel puede comprometerse hasta en un 30 % en los pacientes con sarcoidosis sistémica, con manifestaciones específicas, dentro de las cuales la de tipo papular es la más común, o inespecíficas, como el eritema nodoso. Debido a que las lesiones cutáneas proveen un sitio accesible para realizar el diagnóstico de la enfermedad, es importante aprender a reconocerlas. En esta revisión se hace un repaso de las manifestaciones cutáneas más frecuentes de la sarcoidosis y de su tratamiento, para ello se realizó una búsqueda en las bases de datos de Pubmed, Hinari y Cochrane hasta febrero del 2013, empleando palabras clave como sarcoidosis, y sarcoidosis cutánea, en artículos publicados en castellano e inglés, durante los últimos 10 años.

Sarcoidosis is a granulomatous disease that can affect almost any organ. It occurs most commonly between the third and fourth decade and its etiology is unknown, but it is suggested that environmental factors, exposure to certain microorganisms and genetic predisposition may be important in its development. The skin may be affected in 30 % of patients with systemic sarcoidosis, presenting in this organ specific manifestation, being the papular de most common, or unspecific as erythema nodosum, which is a reactive phenomenon of the disease in which there are non-granulomas. Because skin lesions provide an accessible place for diagnosis of the disease, it is important to learn to recognize. In this review, we repass in the most common cutaneous manifestations of sarcoidosis and its treatment, for that we researched in the databases PubMed, Cochrane Hinari and until February 2013, using keywords such as sarcoidosis, and cutaneous sarcoidosis, in articles published in Spanish and English, for the past 10 years.

Calcifilaxis, reporte de un caso / Calciphylaxis, a case report

La calcifilaxis o arteriopatía calcificante urémica en una entidad poco frecuente que se presenta principalmente en pacientes con enfermedad renal crónica en estado terminal. Se caracteriza por la formación de placas y nódulos eritemato-violáceos que posteriormente se ulceran, secundariamente a la calcificación de arteriolas dérmicas y subcutáneas. Tiene una mortalidad que alcanza entre 60 y 80 % y el tratamiento pocas veces es exitoso ya que no existe alguno específico y completamente efectivo. Se presenta el caso de una paciente de 57 años con enfermedad renal terminal y en manejo con hemodiálisis, con presencia de úlceras y nódulos muy dolorosos de un mes de evolución, en abdomen y miembros inferiores, en los que se confirmó el diagnóstico de calcifilaxis por medio de una biopsia de piel.

Calciphylaxis or calcific uremic arteriopathy is a rare entity that occurs primarily in patients with end-stage kidney disease. It is characterized by the formation of erythematous and violeceous plaques and nodules that ulcerate secondarily to calcificaton of dermal and subcutaneous arterioles. Calciphylaxis has a mortality of 60-80 % and treatment is rarely successful since there is no specific and completely effective treatment option. We report the case of a 57-year old with end stage renal disease on hemodialysis with the presence of very painful ulcers and nodules of 1 month evolution on abdomen and lower limbs. The diagnosis of calciphylaxis was confirmed through skin biopsy.