Primer aislamiento de Sporothrix brasiliensis en un caso humano de esporotricosis en Chile. Un hongo emergente y preocupante

Se describe el aislamiento de Sporothrix brasiliensis desde una biopsia de piel de un caso humano de esporotricosis linfocutánea, en la región de Valparaíso, Chile. Esta especie es la más virulenta del género y es de transmisión zoonótica, desde los gatos a los humanos. Hasta ahora, solo se había publicado un brote por esta especie en gatos domésticos y asilvestrados en el extremo sur de Chile, por lo que este aislamiento, en una mujer residente de un sector densamente poblado de la Región de Valparaíso, constituye una preocupación por su eventual diseminación hacia otros gatos y la población general.

The isolation of Sporothrix brasiliensis from a skin biopsy of a human case of lymphocutaneous sporotrichosis in the region of Valparaíso, Chile is described. This species is the most virulent of the genus and is zoonotic in transmission from cats to humans. Until now, only one outbreak of this species has been published in domestic and feral cats in the extreme south of Chile, so this isolation in a woman residing in a densely populated sector of the fifth region is a concern for its eventual spread to other cats and the general population.

Relevancia del xantogranuloma juvenil en pacientes con neurofibromatosis tipo 1: Revisión de un caso clínico / The relevance ofjuvenile xanthogranuloma in neurofibromatosis type i patients. Aclinical case

El xantogranuloma juvenil es una forma de histiocitosis de células no Langerhans que suele afectar a los niños y niñas dentro de los primeros años de vida. Su principal relevancia radica en la posible asociación a neurofibromatosis tipo 1, ya que su presentación conjunta conlleva un mayor riesgo de desarrollo de leucemia mielomonocítica crónica juvenil. Se presenta el caso de un lactante diagnosticado con neurofibromatosis tipo 1 en que se detectan lesiones múltiples compatibles con xantogranuloma juvenil.

Juvenile xanthogranuloma is a form of non-Langerhans cell histiocytosis which usually affects boys and girls in their early years. Its importance stemsfrom its possible association with neurofibromatosistype 1 asthe combined presentation brings a heightened risk of developing chronic juvenile myelomonocytic leukemia. We present the case of an infant diagnosed with neurofibromatosistype I who was found to have multiple lesions compatible with the diagnosis of juvenile xanthogranuloma.

Primary Scarring Alopecia: Clinical-Pathological Review of 72 Cases and Review of the Literature.

PURPOSE OF THE STUDY: To analyze the epidemiologic, demographic, clinical, and histological characteristics of primary scarring alopecia (PSA) cases diagnosed over a 7-year period at the Department of Dermatology, Hospital Clinic, Barcelona, Spain. PROCEDURES: Seventy-two patients diagnosed with PSA between 2006 and 2012 were included. Age, sex, ethnic group, clinical pattern, predominant histological infiltrate, final clinical diagnosis, time of onset, treatments used, and clinical evolution were evaluated and correlated. RESULTS: The ethnic groups were distributed as follows: 93% European-Caucasian, 5% Mestizo-American, 1% oriental, and 1% Afro-American. Most cases were females (71%), and mean age was 51 ± 6 years. The follicular pattern was the most common, and the predominant inflammatory infiltrate was lymphocytic. Lichen planopilaris and frontal fibrosing alopecia were the main diagnoses. When correlating clinical aspects and histopathology, lymphocytic PSAs had a subacute onset and resulted in a nonchanging, more stable form, while neutrophilic PSAs had a more acute onset with an evolution of acute outbreaks. PSAs in a late stage with an absent/mild infiltrate had a subclinical onset and a slowly progressive or stable evolution. CONCLUSIONS: The PSAs are severe trichological conditions. Their high clinical and histopathological variability make them a diagnostic and therapeutic challenge. MESSAGE OF THE PAPER: Knowing the clinical and histopathological aspects of PSAs should be of crucial importance to the dermatologist.

Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.

BACKGROUND: Xeroderma pigmentosum (XP) is a genodermatosis caused by abnormal DNA repair. XP complementation group C (XPC) is the most frequent type in Mediterranean countries. We describe a case with a novel mutation in the XPC gene. CASE: A healthy Caucasian male patient was diagnosed with multiple primary melanomas. Digital follow-up and molecular studies were carried out. RESULTS: During digital follow-up 8 more additional melanomas were diagnosed. Molecular studies did not identify mutations in CDKN2A, CDK4 or MITF genes. Two heterozygous mutations in the XPC gene were detected: c.2287delC (p.Leu763Cysfs*4) frameshift and c.2212A>G (p.Thr738Ala) missense mutations. CONCLUSION: The p.Thr738Ala missense mutation has not been previously described. Missense mutations in the XPC gene may allow partial functionality that could explain this unusual late onset XP. Atypical clinical presentation of XPC could be misdiagnosed when genetic aberrations allow partial DNA repair capacity.

[Severe aneurismal coronary artery disease probably caused by Kawasaki disease. report of one case]. / Enfermedad coronaria aneurismática severa en un adolescente con angina de esfuerzo secundaria a enfermedad de Kawasaki no diagnosticada previamente.

We report a 16 year old male with a history of angina on exertion. A treadmill exercise test was positive for ischemia in concordance with a Thallium-201 scintigraphy showing a septal and infero-posterior reversible myocardial perfusión defect. Coronary angiography disclosed severe aneurysmal coronary artery disease. Bilateral internal mammary coronary artery bypass grafting was successfully performed. Kawasaki disease is the most likely etiology, although not confirmed.

Enfermedad coronaria aneurism tica severa en un adolescente con angina de esfuerzo secundaria a enfermedad de Kawasaki no diagnosticada previamente / Severe aneurisma I coronary artery disease probably caused by Kawasaki disease. Report of one case

We report a 16 year old male with a history of angina on exertion. A treadmill exercise test was positive for ischemia in concordance with a Thallium-201 scintigraphy showing a septal and infero-posterior reversible myocardial perfusi¢n defect. Coronary angiography disclosed severe aneurysmal coronary artery disease. Bilateral internal mammary coronary artery bypass grafting was successfully performed. Kawasaki disease is the most likely etiology, although not confirmed.