Manifestación cutánea de histoplasmosis diseminada en un paciente con trasplante renal / Cutaneous manifestation of disseminated histoplasmosis in a renal transplant patient

Introducción: La infección por Histoplasma capsulatum ocurre con frecuencia en pacientes con inmunosupresión por VIH o en trasplantados que reciben tratamiento inmunosupresor. La infección primaria se adquiere por vía inhalatoria con afectación pulmonar y posteriormente puede diseminarse a otros órganos como hígado, intestinos, corazón, riñones, piel o tejido óseo. Es muy raro que ocurra en pacientes con trasplante renal, aunque sí es común en el trasplante pulmonar. Objetivo: Presentar el caso de un paciente con antecedente de trasplante renal 9 años antes que ingresó por presentar lesiones cutáneas no típicas de histoplasmosis, quien desarrolló 2 semanas después histoplasmosis diseminada, sin compromiso pulmonar. Caso clínico: Paciente masculino de 65 años de edad postrasplante renal, que desarrolló manifestación cutánea caracterizada por pápulas y placas eritematodescamativas con superficies costrosas y atróficas, acompañado de fiebre persistente y adenopatías. No presentó signos o síntomas pulmonares como manifestación de infección primaria. El diagnóstico definitivo se estableció mediante histopatología de piel y ganglios cervicales, además del crecimiento de H. capsulatum en hemocultivos específicos para hongos. Recibió tratamiento con anfotericina B liposomal y posteriormente con itraconazol de forma ambulatoria con evolución favorable. Conclusión: El caso descrito es importante, ya que no se asemeja a la presentación típica de esta entidad, es decir, con afectación pulmonar primaria y posteriormente cutánea. Se espera haber enriquecido el conocimiento de esta enfermedad en pacientes trasplantados.

Introduction: Histoplasma capsulatum infection frequently occurs in patients with HIV immunosuppression or in transplant recipients receiving immunosuppressive therapy. Primary infection is acquired by inhalation with pulmonary involvement, and may subsequently spread to other organs such as liver, intestines, heart, kidneys, skin or bone tissue. It is very rare in renal transplant patients, although it is common in lung transplantation. Objective: To present the case of a patient with a history of renal transplantation nine years earlier, who was admitted for presenting skin lesions not typical of histoplasmosis, developing disseminated histoplasmosis two weeks later, without pulmonary involvement. Clinical Case: Post-renal transplant male patient, aged 65, who developed cutaneous manifestations characterized by erythematous and scaly papules and plaques with crusty and atrophic surfaces, accompanied by persistent fever and lymphadenopathy. There were no pulmonary signs or symptoms of a primary infection. The definitive diagnosis was made by histopathology of skin and cervical nodes, in addition to the growth of H. capsulatum in specific blood cultures for fungi. The patient was treated with liposomal amphotericin B and later with itraconazole on an outpatient basis with favorable evolution. Conclusion: The case described is important since it does not resemble the typical presentation of this entity, that is, with primary pulmonary and subsequently cutaneous involvement. It is expected to have enriched the knowledge of this disease in transplanted patients.

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

BACKGROUND: Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI genes are associated with LI and CIE phenotypes, the unique gene associated with HI is ABCA12. In HI, the most severe ARCI form, pathogenic variants in both ABCA12 gene alleles usually have a severe impact on protein function. The presence of at least one non-truncating variant frequently causes a less severe congenital ichthyosis phenotype (LI and CIE). METHODS: We report the case of a 4-year-old Ecuadorian boy with a severe skin disease. Genetic diagnosis was performed by NGS. In silico predictions were performed using Alamut software v2.11. A review of the literature was carried out to identify all patients carrying ABCA12 splice-site and missense variants, and to explore their genotype-phenotype correlations. RESULTS: Genetic testing revealed a nonsense substitution, p.(Arg2204*), and a new missense variant, p.(Val1927Leu), in the ABCA12 gene. After performing in silico analysis and a comprehensive review of the literature, we conclude that p.(Val1927Leu) affects a well conserved residue which could either disturb the protein function or alter the splicing process, both alternatives could explain the severe phenotype of our patient. CONCLUSION: This case expands the spectrum of ABCA12 reported disease-causing variants which is important to unravel genotype-phenotype correlations and highlights the importance of missense variants in the development of HI.