Tiña por Nannizzia nana: caso clínico y revisión bibliográfica / Ringworm by Nannizzia nana: Clinical case and literature review

Introducción Las dermatofitosis humanas son el grupo más extendido de infecciones causadas por hongos. Estos son capaces de invadir los tejidos que contienen queratina de los animales. Nannizzia nana (N. nana) puede causar tiña en cerdos y que de manera excepcional puede producir infecciones en humanos. Métodos Realizamos una búsqueda en PubMed de artículos publicados desde el 1 de enero de 1990 hasta el 31 de marzo del 2022 para identificar casos adicionales. Los términos de búsqueda empleados fueron «Microsporum nanum» y «Nannizzia nana». Resultados Tras la revisión bibliográfica identificamos un total 16 casos de dermatofitosis por N. nana desde 1990. En la mayoría de los pacientes, el diagnóstico clínico fue tinea corporis y los antifúngicos más utilizados fueron terbinafina y griseofulvina. Conclusión N. nana es una especie de dermatofito aislada infrecuentemente en humanos, pero que representa una fuente potencial de dermatofitosis en personas que entran en contacto directo o indirecto con animales y con el suelo (AU)

Introduction Human dermatophytoses are the most widespread infections caused by fungi. These are capable of invading the keratin-containing tissues of animals. Nannizzia nana (N. nana) can cause ringworm in pigs and rarely cause infections in humans. Methods We conducted a search using PubMed for articles published from January 1, 1990 to March 31, 2022 to identify additional cases. The search terms used were “Microsporum nanum” and “Nannizzia nana”. Results After reviewing the literature, we identified a total of 16 cases of dermatophytosis due to N. nana since 1990. In most of the patients, the clinical diagnosis was tinea corporis and the most widely used antifungals were: terbinafine and griseofulvin. Conclusion N. nana is a dermatophyte species isolated infrequently in humans, but it represents a potential source of dermatophytosis in people who come into direct or indirect contact with animals and soil (AU)

Ringworm by Nannizzia nana: Clinical case and literature review.

INTRODUCTION: Human dermatophytoses are the most widespread infections caused by fungi. These are capable of invading the keratin-containing tissues of animals. Nannizzia nana (N. nana) can cause ringworm in pigs and rarely cause infections in humans. METHODS: We conducted a search using PUBMED for articles published from January 1, 1990 to March 31, 2022 to identify additional cases. The search terms used were "Microsporum nanum" and "Nannizzia nana". RESULTS: After reviewing the literature, we identified a total of 16 cases of dermatophytosis due to N. nana since 1990. In most of the patients, the clinical diagnosis was tinea corporis and the most widely used antifungals were: terbinafine and griseofulvin. CONCLUSION: N. nana is a dermatophyte species isolated infrequently in humans, but it represents a potential source of dermatophytosis in people who come into direct or indirect contact with animals and soil.

Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3.

The Buschke-Ollendorff syndrome (BOS) (MIM 166700) is a rare autosomal dominant disorder with highly variable expression that consists of multiple cutaneous elastic nevi and osteopoikilosis. It may exhibit clinical variations, and in some patients either skin or bone lesions may be absent. Recently it has been demonstrated that the heterozygous loss of function in LEMD3 can result in osteopoikilosis, BOS, and melorheostosis. We have studied three generations in a family with BOS with a variable phenotype. The genetic analyses revealed a heterozygous c.2203C>T nonsense mutation at the LEMD3 locus. The mutation induces a change in the 735 arginine codon to a stop codon. This study shows the wide phenotypic variation in BOS and increases the repertory of mutations described to date in LEMD3.

Micosis fungoide hipocrómica en la infancia / Hypopigmented mycosis fungoides in childhood

Describimos una niña de 9 años con hepatopatía crónica por atresia de vías biliares congénita. Mostró a los 4 años de edad lesiones maculosas hipocrómicasen glúteos y extremidades inferiores, algunas de ellas con componente purpúrico. Fue biopsiada a los 7 y 8 años de edad con estudio inmunocitoquímicoque confirmó micosis fungoide hipocrómica. Se discute la micosis fungoide en la infancia, su pronóstico y tratamiento. Concluimos,que ante lesiones hipopigmentadas refractarias al tratamiento, conviene realizar biopsia cutánea para descartar micosis fungoide hipocrómica

A 9 year old girl with chronic hepatic disease by congenital byliary atresia is reported. When she was 4 years old presented a hypopigmented macularlesions in the buttocks and lower limbs, some of them with purpuric component. Two biopsies with immunohistochemical study confirmed hypopigmentedmycosis fungoides. We discuss mycosis fungoides in childhood, its pronostic and treatment. We conclude, that hypopigmented lesions refractaryto treatment should always undergo biopsy to rule hypopigmented mycosis fungoides

[Familial pemphigus vulgaris: immunogenetic study of HLA class II antigens]. / Pénfigo vulgar familiar: estudio inmunogenético de los antígenos HLA clase II.

INTRODUCTION: Pemphigus vulgaris (PV) is a rare autoimmune bullous disease that affects the skin and mucosae, characterized by the presence of antibodies against desmoglein 3, that causes acantholisis and formation of intraepidermal blisters. Observation of PV cases in several members of the same family suggests the existence of genetic factors that contribute to susceptibility to suffer the disease. However, very few cases of familial PV have been described. Based on its autoimmune nature, many studies have found an association between PV and the HLA class II allele, specifically with the HLA-DRB1*0402 DQB1*0302 and HLA-DRB1*1401 DQB1*0503 haplotypes that bestows a significant risk of disease. OBJECTIVES: Study of three families with PV. PATIENTS AND METHODS: In this study, we present three families, with a total of 7 patients, diagnosed of familial PV. HLA antigens were determined with the PCR (polymerase chain reaction) technique in several members of these families. RESULTS: All the subjects affected were positive for HLA DR4 and HLA DR14. The fact that different families with PV are associated with identical haplotypes and that healthy siblings of the patients have the same haplotype is of special interest. CONCLUSION: These results support the concept of genetic predisposition in this rare disease.

Pénfigo vulgar familiar: estudio inmunogenético de los antígenos HLA clase II / Familial pemphigus vulgaris: immunogenetic study of HLA class II antigens

Introducción. El pénfigo vulgar (PV) es una rara enfermedad ampollosa autoinmune que afecta a la piel y a las mucosas, caracterizada por la presencia de autoanticuerpos dirigidos contra la desmogleína 3, causando acantolisis y formación de ampollas intraepidérmicas. La observación de casos de PV en varios miembros de una familia sugiere la existencia de factores genéticos que contribuyen a una susceptibilidad a padecer la enfermedad; sin embargo, son muy pocos los casos descritos de PV familiar. Basándose en su naturaleza autoinmune, numerosos estudios han determinado una asociación entre el PV y los alelos antígenos de histocompatibilidad (HLA) clase II; en concreto con los haplotipos HLA-DRB1*0402 DQB1*0302 y HLA-DRB1* 1401 DQB1*0503 que confieren un riesgo significativo de enfermedad. Objetivos. Estudio de tres familias con PV. Pacientes y métodos. En este estudio presentamos tres familias diagnosticadas de PV familiar, con 7 pacientes. Determinamos los antígenos HLA mediante la técnica de PCR (reacción en cadena de la polimerasa) en varios miembros de estas familias. Resultados. Todos los individuos afectos fueron positivos para HLA DR4 y HLA DR14. Es de especial interés el hecho de que diferentes familias con PV se asocien con haplotipos idénticos y que hermanos sanos de los pacientes tengan el mismo haplotipo. Conclusiones. Estos resultados apoyan el concepto de la predisposición genética en esta rara enfermedad

Introduction. Pemphigus vulgaris (PV) is a rare autoimmune bullous disease that affects the skin and mucosae, characterized by the presence of antibodies against desmoglein 3, that causes acantholisis and formation of intraepidermal blisters. Observation of PV cases in several members of the same family suggests the existence of genetic factors that contribute to susceptibility to suffer the disease. However, very few cases of familial PV have been described. Based on its autoimmune nature, many studies have found an association between PV and the HLA class II allele, specifically with the HLA-DRB1*0402 DQB1*0302 and HLA-DRB1*1401 DQB1*0503 haplotypes that bestows a significant risk of disease. Objectives. Study of three families with PV. Patients and methods. In this study, we present three families, with a total of 7 patients, diagnosed of familial PV. HLA antigens were determined with the PCR (polymerase chain reaction) technique in several members of these families. Results: All the subjects affected were positive for HLA DR4 and HLA DR14. The fact that different families with PV are associated with identical haplotypes and that healthy siblings of the patients have the same haplotype is of special interest. Conclusion. These results support the concept of genetic predisposition in this rare disease