Síndrome de hiperinmunoglobulinemia E / Hyper IgE syndrome

Introducción: El síndrome de hiperIgE es una inmunodeficiencia primaria poco frecuente de etiología desconocida, con afectación multisistémica; causada por mutaciones dominantes del gen que codifica la proteína transductora de señal y activadora de la transcripción, STAT-3, por lo que condiciona un déficit en la generación de las células Th17 a partir de las células T CD4+ y explica la susceptibilidad de estos pacientes a las infecciones por Stafilococus aureus y Cándida albicans. Objetivo: Contribuir al conocimiento de esta inmunodeficiencia para su detección precoz y tratamiento oportuno. Presentación del caso: Se trata de una lactante, con puente nasal amplio, hiperlaxitud, erupción eccematosa desde el período neonatal, infecciones cutáneas, óticas, pulmonares con presencia de neumatoceles y candidiasis mucocutánea. Se detectaron concentraciones elevadas de IgE sérica y eosinofília. Se trató con inmunomoduladores, antihistamínicos, antimicrobianos y vitaminoterapia. Se logró mejoría clínica. Conclusiones: El síndrome de hiperIgE-AD es una inmunodeficiencia primaria poco frecuente caracterizada por altas concentraciones de IgE, eosinofilia, abscesos cutáneos, eccemas, candidiasis mucocutánea crónica e infecciones pulmonares recidivantes, neumatoceles y bronquiectasias; también se presentan alteraciones del tejido conectivo, esquelético y vascular. Se requiere de alto grado de sospecha clínica y es importante la atención precoz de las infecciones, que en general presentan una respuesta tórpida sistémica. Las alternativas terapéuticas están dirigidas a prevenir la sepsis y al control de los síntomas(AU)

Introduction: Hyper IgE syndrome is a rare primary immunodeficiency of unknown etiology, with multi systemic impact; it is caused by dominant mutations of the gene that codifies the protein transducer of signal and activator of transcription (STAT-3), therefore it determines a deficit in the generation of Th17 cells from T CD4+ cells, and explains the sensitivity of these patients to the infections caused by Stafilococus aureus and Candida albicans. Objective: Contribute to the knowledge of this immunodeficiency for its early detection and timely treatment. Case presentation: Newborn with wide nasal bridge, hypermovility, eczematose rash since the neonatal period; cutaneous, ear, and pulmonary infections with presence of neumotoceles and mucocutaneous candidiasis. There were detected high concentrations of seric IgE and eosinophilia. The patient was treated with immunomodulators, antihestamines, antimicrobial drugs and vitaminotherapy. It was achieved a clinical improvement. Conclusions: Hyper IgE syndrome-AD is a rare primary immunodeficiency characterized by high concentrations of IgE, eosinophilia, cutaneous abscesses, eczemas, chronical mucocutaneous candidiasis and recurrent pulmonary infections, neumatoceles and bronchiectasis; it also presents alterations in the connective, skeletal and vascular tissue. It is required a high level of clinical suspicion and it is important the early care of the infections, which generally present a systemic torpid response. The therapeutic alternatives are directed to prevent a sepsis and to control the symptoms(AU)

Chronic mucocutaneous candidiasis associated with paracoccidioidomycosis in a patient with mannose receptor deficiency: First case reported in the literature

Abstract We describe the first report of a patient with chronic mucocutaneous candidiasis associated with disseminated and recurrent paracoccidioidomycosis. The investigation demonstrated that the patient had a mannose receptor deficiency, which would explain the patient's susceptibility to chronic infection by Candida spp. and systemic infection by paracoccidioidomycosis. Mannose receptors are responsible for an important link between macrophages and fungal cells during phagocytosis. Deficiency of this receptor could explain the susceptibility to both fungal species, suggesting the impediment of the phagocytosis of these fungi in our patient.

Nova mutação no gene STAT1 associada com candidíase mucocutânea crônica / New STAT1 gene mutation associated with chronic mucocutaneous candidiasis

Mutações no gene STAT1 (signal transducer and activator of transcription 1) têm sido identificadas como responsáveis pela maioria dos casos sindrômicos da candidíase mucocutânea crônica com herança autossômica dominante (AD). Nesse artigo, descrevemos uma menina de 7 anos que apresentou candidíase da mucosa oral e unhas, além de infecção disseminada da pele e couro cabeludo por Microspora gipseum. Recentemente, a paciente foi diagnosticada e tratada de meningite por Cryptococcus neoformans. Na família não existem outros casos de candidíase. A avaliação imunológica incluiu a detecção de subpopulações de linfócitos (CD3, CD4, CD8, CD20 e células NK), assim como a dosagem de IgG, IgA, IgM e IgE, subclasses de IgG e autoanticorpos. Excluindo-se discreta diminuição de CD3, CD4, CD8, NK e leve aumento de IgG1, os demais exames estiveram dentro da normalidade. O sequenciamento do exoma detectou uma rara mutação em heterozigose no exon 14 do domínio de ligação do DNA (DNA-binding domain) do gene STAT1, ocasionando um provável ganho de função (GOF) responsável pela doença (Gly384Asp). Essa variação foi também identificada pelo sequenciamento de Sanger, não estando reportada nos bancos de dados públicos e apresentando elevado potencial de dano (índice CADD=32). Será interessante contarmos com informações clínicas e estudos com outros pacientes para conhecermos mais essa mutação patológica. Além da apresentação do caso, discutiremos as formas de tratamento existentes.

STAT1 (signal transducer and activator of transcription 1) gene mutations have been identified as responsible for most syndromic cases of chronic mucocutaneous candidiasis with autosomal dominant (AD) inheritance. In this article, we described a 7-year-old girl who presented with candidiasis of the oral mucosa and nails, as well as disseminated infection of the skin and scalp caused by Microsporum gypseum. Recently, the patient was diagnosed and treated for Cryptococcus neoformans meningitis. There are no other cases of candidiasis in the family. The immunological evaluation consisted of detection of subpopulations of lymphocytes (CD3, CD4, CD8, CD20, and NK cells), as well as measurement of IgG, IgA, IgM, and IgE, IgG subclasses, and autoantibodies. Excluding a slight decrease in CD3, CD4, CD8, NK and a minimal increase in IgG1, the others were within normal limits. Exome sequencing detected a rare heterozygous variation in exon 14 of the DNA-binding domain of the STAT1 gene, causing a probable gain of function (GOF) responsible for the disease (Gly384Asp). This variation was also identified by Sanger sequencing, but it was not reported in public databases and had a high potential for damage (Combined Annotation-Dependent Depletion [CADD] score = 32). Having clinical information and conducting studies of other patients will be helpful to learn more about this pathological mutation. In addition to the presentation of the case, we will discuss the existing forms of treatment.

A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome type 1 (APS-1), or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare, autosomal recessive autoimmune disease caused by a mutation of the autoimmune regulator (AIRE) gene. The main symptom triad in APS-1 comprises chronic mucocutaneous candidiasis, adrenal insufficiency, and hypoparathyroidism. Various autoimmune diseases and ectodermal abnormalities are also commonly associated with the syndrome. The treatment of APS-1 includes hormone replacement and symptom control. It is important to monitor such patients for clinical manifestations of their disease through regular follow-up. We report the case of a 10-year-old Korean girl with APS-1 due to a novel compound heterozygous mutation of the AIRE gene. This patient's main clinical manifestations were adrenal insufficiency and chronic mucocutaneous candidiasis. The patient had a previously known pathogenic variant of c.1513delG (p.Ala505ProfsTer16), and a newly discovered variant of c.1360dupC (p.His454ProfsTer50).

Candidiasis mucocutánea crónica: una mirada al entendimiento genético / Chronic mucocutaneous candidiasis: a look at genetic understanding

RESUMEN La candidiasis mucocutánea crónica se caracteriza por infecciones recurrentes o persistentes en la piel, las uñas y las mucosas, producida por especies de Candida sp. Esta va a ser secundaria a cualquier alteración en la inmunidad antimicótica, en la cual no solo la producción de IL-17, sino cualquier defecto en la diferenciación de los linfocitos T hacia su perfil TH17, juegan un papel fundamental y van a desencadenar una susceptibilidad a esta infección, que dependiendo de la etiología genética, puede ser una manifestación sindrómica con otras características clínicas y endocrinológicas asociadas. Aquí revisamos de manera práctica, clara y concisa los defectos genéticos hasta ahora encontrados, implicados en la aparición de la candidiasis mucocutánea crónica.

SUMMARY Chronic mucocutaneous candidiasis is an infectious phenotype characterized by recurrent or persistent infections in the skin, nails and mucous membranes produced by Candida sp. This is secondary to any alteration in the antifungal immunity, in which not only the production of IL-17, but any defect in the differentiation of the T lymphocytes towards their TH17 profile, play a fundamental role and will unchain a susceptibility to this infection; that depending on the genetic etiology, can be a syndromic manifestation with other associated infectious and endocrinological clinical characteristics. Here, we review in a practical, clear and concise manner, the genetic defects so far found to be involved in the appearance of chronic mucocutaneous candidiasis.

Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea

Bronchiectasis is a chronic disease characterized by airway infection and inflammation, leading to permanent dilation of the bronchi. Evaluation of underlying etiology is important in managing young bronchiectasis patients with recurrent infections caused by unusual pathogens. The signal transducer and activator of transcription 1 (STAT1) protein plays a key role in STAT signaling and immune system regulation. Heterozygotes for gain-of-function (GOF) alleles of the STAT1 gene usually display autosomal dominant chronic mucocutaneous candidiasis (CMC) and a wide range of clinical features, such as bronchiectasis. Here, we report on a patient with CMC and bronchiectasis with various types of infections who carried a pathogenic variant of the STAT1 gene. The 24-year-old female presented with recurrent respiratory bacterial and nontuberculous mycobacterial infections complicated by severe bronchiectasis and CMC. Whole-exome sequencing revealed a c.800C>T (p.Ala267Val) heterozygous mutation in the STAT1 gene. Further analysis by Sanger sequencing of STAT1 from the patient and her parents revealed the patient had a de novo occurrence of the variant. This is the first report of a Korean patient with a GOF pathogenic variant in STAT1. Physicians should be aware of the existence of this variant as a genetic factor associated with CMC and bronchiectasis complicated by recurrent infection.

First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus

Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder that is difficult to diagnose because of its heterogeneous clinical manifestations and genetic background. A 20-month-old boy who did not grow in height for 3 months was diagnosed as having hypothyroidism and he had hepatitis which was found at 5 years old. He presented with persistent oral thrush and vesicles on the body, the cause of which could not be identified from laboratory findings. No microorganism was detected in the throat culture; however, the oral thrush persisted. Immunological tests showed that immunoglobulin (Ig) subclass IgG and cluster of differentiation (CD)3, CD4, and CD8 levels were within normal limits. We prescribed oral levothyroxine and fluconazole mouth rinse. The patient was examined using diagnostic exome sequencing at the age of 6 years, and a c.1162A>G (p.K388E) STAT1 gene mutation was identified. A diagnosis of CMC based on the STAT1 gene mutation was, thus, made. At the age of 8 years, the boy developed a malar-like rash on his face. We conducted tests for detection of antinuclear antibodies and anti-dsDNA antibodies, which showed positive results; therefore, systemic lupus erythematosus (SLE) was also suspected. Whole exome sequencing is important to diagnose rare diseases in children. A STAT1 gene mutation should be suspected in patients with chronic fungal infections with a thyroid disease and/or SLE.

Chronic mucocutaneous candidiasis: a case with exuberant cutaneous horns in nipples

Chronic mucocutaneous candidiasis is a rare disorder characterized by persistent and recurrent infections by Candida due to changes in cellular immunity and may be associated with autoimmune endocrine disorders. It is refractory to the usual antifungal treatments, which merely control it with imidazole derivatives. This reports the case of a 50-year-old female patient who referred vaginal discharge associated with vulvar ulcerated lesions and whitish plaques on oral and genital mucous membranes of onset in adolescence besides cutaneous horns in nipples. The clinical picture, family history, culture and anatomopathological studies were consistent with chronic infection by candida. Treatment with systemic antifungals obtained partial response of lesions characterizing a clinical picture of Chronic Mucocutaneous Candidiasis.

Chronic Mucocutaneous Candidiasis Misdiagnosed as Lichen Planus / 대한의진균학회지

Chronic mucocutaneous candidiasis is a rare syndrome characterized by persistent and refractory infection of the skin, nail and mucosal tissue by yeasts of the genus Candida. A 70-year-old woman presented with the following skin lesions: ill-defined annular shaped whitish macules on the upper and lower lips accompanying dryness, pain and burning sensation, and yellowish discoloration with onycholysis of the right 4th finger nail. The upper lip lesion showed histopathologic feature of band-like infiltration of lymphocytes in the upper dermis, consistent with lichen planus. But, systemic glucocorticoid was not effective in treating erosive lip lesions. KOH examination and fungal culture of specimens from the upper lip showed hyphal elements and growth of Candida albicans, respectively. Antifungal agent was administered. After the oral medication, skin lesions were improved but there was repeated recurrence. We report a case of chronic mucocutaneous candidiasis misdiagnosed as lichen planus.

Síndrome de poliendocrinopatía autoinmune-candidiasis mucocutánea-distrofia ectodérmica: manifestaciones dermatológicas / Polyendocrinopathy syndrome mucocutaneous candidiasis-ectodermal dystrophy, autoimmune: dermatological manifestations

El síndrome de poliendocrinopatía autoinmune - candidiasis mucocutánea crónica - distrofia ectodérmica (APECED) es una enfermedad rara, de origen genético, caracterizada por fallos endocrinológicos de origen autoinmune, candidiasis mucocutánea crónica y defectos ectodérmicos. Se describe un caso en una niña de 10 años con las manifestaciones dermatológicas características de este síndrome.

Autoimmune polyendocrinopathy - chronic mucocutaneous candidiasis - ectodermal dystrophy syndrome (APECED) is a rare genetic disease, characterized by autoimmune endocrine disorders, chronic mucocutaneous candidiasis and ectodermal disorders. We herein describe a case in a 10-year-old girl with the characteristics dermatological manifestations of this syndrome.

Candidiasis mucocutánea: espectro clínico / Clinical spectrum of mucocutaneous candidiasis

La candidiasis mucocutánea es una infección superficial común en nuestro medio, con múltiples factores de riesgo para su desarrollo. En las últimas décadas se ha incrementado su presentación, ya que tiene gran asociación con el VIH-sida, aunque también se presenta en personas inmunocompetentes. El agente etiológico más común es Candida albicans. La candidiasis superficial puede comprometer piel, mucosas y uñas, y existe la forma mucocutánea crónica que se asocia a enfermedades autoinmunitarias. Se hace una revisión de las principales formas de candidiasis mucocutánea y su implicación clínica en la población general.

Avalia ao da susceptibilidade a antifungicos de diferentes espécies de leveduras candida isoladas de mucosa bucal e pele / Evaluation of antifungal susceptibility of different species of candida yeast isolated from buccal mucosa and skin

A variabilidade das diferentes especies de Candida sp, juntamente com as distintas respostas as formas de tratamento, desenvolveram a necessidade da utiliza tao de diferentes metodos diagn6sticos e esquemas terapeuticos. Entre as leveduras deste grupo, a Candida albicans e urn dos pat6genos mais comuns envolvidos nas candidiases mucocutaneas e da orofaringe, porem as especies nao albicans tern aumentado em numero e em importancia devido ao acrescimo do perfil de resistencia aos antifUngicos. A resistencia da Candida albicans e das especies nao albicans ao fluconazole outros derivados az61icos e descrito na literatura com freqOencia, o que torna importante a realiza tao de testes de susceptibilidade. Neste contexte esta pesquisa tern como objetivo determinar o perfil de susceptibilidade das leveduras Candida em diferentes sftios anatomicos. As leveduras isoladas da mucosa bucal e de pele foram semeadas em CHROMagar Candida, incubadas por 48 horas, a 35°C sendo posteriormente identificadas e avaliado in vitro o perfil de susceptibilidade utilizando o metodo da macrodilui tao. Entre as 25 amostras analisadas, verificou-se urn perfil de resistencia maior ao fluconazol em compara tao ao cetoconazol, sendo que 44% dos isolados de boca e 50% de pele mostraram-se resistentes ao fluconazol.

The variability of the different species of Candida sp, together with the distinct responses to treatment, elicited the need of using different diagnostic methods and therapeutic programs. Among the yeast of this group, Candida albicans is one of the most common pathogens involved in muco-cutaneous and oropharingeal candidiases, but the non-albicans species have increased in number and importance due to antifungal resistance. The resistance of Candida albicans and the non-albicans species to fluconazole and other azolic derivatives is frequently reported, which makes susceptibility tests important. Within this scope, this research has the purpose of determining the susceptibility profile of Candida yeast from different anatomical sites. The yeast cells isolated from buccal mucosa and skin were seeded in CHROMagar Candida, incubated for 48 hours at 35°C; later, they were identified and the susceptibility profile was assessed in vitro using themacrodilution method. Of the 25 samples analyzed, a higher profile of resistance to fluconazole compared to ketoconazole was noticed, where 44% ofthe buccal and 50% ofthe skin isolates were resistant to fluconazole.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome presenting as unexplained chronic interstitial keratitis

Autoimmune polyglandular syndrome is a rare autosomal recessive polyendocrinopathy with variable combinations of mucocutaneous candidiasis, autoimmune destruction of endocrineglands, and ectodermal dystrophy. specificendocrine dysfunction can include hypoparathyroidism, Addison's disease, hypothyroidism, and diabetes. this syndrome is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy [APECED]. Ocular manifestations can be part of the disease and are often disabling. Here we describe the characteristics of APECED syndrome and its association with chronic interstitial keratitis, a rarely seen ocular manifestation with an early onset presentation

Determinação da atividade antifúngica dos óleos essenciais de curcuma longa l. (zingiberaceae) e de achillea millefolium (asteraceae) cultivadas no noroeste do Paraná / Determination of antifungal activity of essential oils of curcuma longa l. (zingiberaceae) and achillea millefolium (asteraceae) grown in the northwest paraná

No presente estudo, utilizou-se o óleo essencial das plantas Curcuma longa L. e Achillea millefolium, cultivadas no Horto Medicinal da Universidade Paranaense, localizado na cidade de Umuarama-PR região Noroeste do Paraná-Brasil. Para isso, os óleos foram obtidos pelo processo de extração por Clevenger modificado, e determinada a ação antimicrobiana frente a 20 cepas de microorganismos isolados de material clínico humano, sendo 16 leveduras da espécie Candida albicans isoladas da cavidade oral de pacientes portadores do Vírus da Imunodeficiência Adquirida (HIV), 3 leveduras isoladas de candidíase vulvovaginal (C. albicans, C. glabrata e C. tropicalis) e uma amostra de S. aureus isolado de lesões cutâneas. Por intermédio dos testes de microdiluição em caldo, os óleos de Achillea millefolium e de Curcuma longa demonstraram ação antimicrobiana considerada moderada (0,625 mg mL-1) em 63,2% e 68,4% das leveduras testadas, respectivamente. Ambos os óleos não apresentaram atividade frente ao S. aureus. Desta forma, sugere-se estudos adicionais para uso na incorporação dos óleos em formas farmacêuticas, com vistas ao uso no tratamento tópico de Candidíase mucocutânea.

It was used in this research the essential oil of the plants Curcuma longa and Achillea millefolium cultivated on the Medicinal garden of Universidade Paranense located on the city of Umuarama-PR. The oils were obtained by the process of steam distillation and was determined the microbial activity against 20 microorganisms isolated from clinical human material, being 16 yeasts of Candida albicans species isolated from the oral cavity from patients infected with Human Immunodeficiency Virus (HIV), 3 yeasts isolated from vulvovaginal candidiasis (C. albicans, C. glabrata and C. tropicalis) and one sample of S. aureus isolated from skin injuries. Through broth microdilution tests, the oils of Achillea millefolium and Curcuma longa showed moderated action (0,625 mg mL-1) on 63,2% e 68,4% of tested yeasts, respectively. Both Oils didn?t show activity against S. aureus. Therefore it is suggested further studies for use in the incorporation of oils in dosage forms with a view to use in the topical treatment of mucocutaneous candidiasis.

Candidiasis mucocutánea crónica. Informe de un caso / Chronic mucocutaneous candidiasis. Case report

La candidiasis mucocutánea crónica (CMC) es una inmunodeficienciaprimaria que se caracteriza por infecciones candidiásicaspersistentes o recurrentes en piel, uñas o membranas mucosas. La CMC puede asociarse con endocrinopatías, comohipoparatiroidismo, enfermedad de Addison, hipotiroidismo, diabetes mellitus de tipo 1 o hipogonadismo; otras patologías asociadas son enfermedades autoinmunitarias, como gastritis autoinmunitarias y hepatitis autoinmunitaria. Se presentauna paciente con CMC con déficit específico de linfocitos T ycélulas NK, sin otra enfermedad asociada.

Avaliação funcional de fagócitos em imunodeficiências com manifestações cutâneas / Functional phagocyte evaluation in immunodeficiencies with cutaneous manifestations

A pele e as mucosas constituem as primeiras barreiras na defesa contra infecções e os macrófagos são componentes essenciais do sistema imune inato, importante neste aspecto. O envolvimento destas células pode ser verificado em grande percentual das imunodeficiências primárias. Desta forma, a avaliação da função fagocitária é de extrema relevância para o reconhecimento dos distúrbios imunológicos que acometem a pele. O objetivo do presente estudo foi avaliar a metodologia laboratorial para a detecção de defeitos funcionais dos fagócitos. Para isto foram estabelecidos os seguintes testes laboratoriais: Nitro Blue Tetrazolium (NBT), Dihidrorodamina (DHR), quimiotaxia, fagocitose e a aderência de S. aureus e C. albicans por citometria de fluxo (CF), além de morte intracelular de S. aureus e C. albicans (CF). Para verificar a integridade do sistema complemento realizou-se ensaios hemolíticos para as vias clássica e alternativa (CH50 e AP50). A metodologia proposta foi aplicada em indivíduos normais para a padronização dos testes. O burst oxidativo avaliado pelo teste da dihidrorodamina (DHR) foi aplicado em 101 indivíduos saudáveis e em paralelo, 50 indivíduos sadios para o teste do NBT. Os mesmos testes foram realizados em pacientes com Candidíase mucocutânea crônica (CMC) (n=9 ), Candidíase persistente (n=5), Suspeita de distúrbios de fagócitos (SDF) (n=14), Doença Granulomatosa Crônica (DGC)(n= 7) e portadores de DGC (n=5)...

Skin and mucosa are part of the first barriers in the defense against infections, and the macrophages are essential components of the innate immune system, important when related to this aspect. The involvement of these cells can be seen in a large percentage of the primary immunodeficiencies. Therefore, the assessment of the phagocitary function is extremely important for the recognition of immunological disorders which affect the skin. The present study focus on the evaluation of the laboratorial methodology for the detection of functional defects of phagocytes. For this the following laboratorial tests were established: Nitro Blue Tetrazolium (NBT), chemotaxis, phagocytosis and adherence of S. aureus and C. albicans through flow cytometry (FC), besides the intracellular death of S. aureus and C. albicans (FC). To assess the integrity of the complement system hemolytic assays were performed for the classic and alternative pathways (CH50 and AP50). The proposed methodology was applied to normal individuals for the standardization of the assays. The oxidative burst evaluated through the dihydrorodamine essay (DHR) was applied to 101 healthy individuals and in parallel, 50 healthy individuals for the NBT assay. The same assays were performed on patients with Chronic mucocutaneous candidiasis (CMC)(n=9), persistent candidiasis (n=5), Phagocytes disorders suspicious (PDS) (n=14), Chronicle granulomatous disease (CGD)(n=7) and CGD carriers (n=5). Chemotaxis was standardized using 34 controls for neutrophils stimulated by lipopolisacharydes from e. coli (LPS) and 5 by C. albicans...

A Case of Chronic Mucocutaneous Candidiasis Occurring in a Patient with Scrofuloderma-like BCGitis / 대한의진균학회지

Chronic mucocutaneous candidiasis (CMC) consists of several clinical syndrome characterized by chronic, treatment-resistant, superficial candidal infections of skin, nails and oropharynx. The patients with CMC usually have other manifestations including non-candidal infections, endocrinopathies and autoimmune diseases. These findings suggest that patients with CMC have multiple or complex abnormalities in their immune systems, especially of cell mediated immunity. The scrofuloderma or scrofuloderma-like BCGitis is used to describe the skin reaction and enlargement of regional lymph node with suppuration. In contrast to chronic mucocutaneous candidiasis, BCGitis does not suggest underlying host immune defect in most cases. In our knowledge, there is no report about scrofuloderma-like BCGitis and chronic mucocutaneous candidiasis occurring in the same patient. Herein, we report a case of chronic mucocutaneous candidiasis associated with scrofuloderma-like BCGitis.

Familial Chronic Mucocutaneous Candidiasis / 대한의진균학회지

Chronic mucocutaneous candidiasis (CMCC) is a complex group of disorder characterized by chronic and recurrent candida infections of the skin, nail and oropharynx. The classification of CMCC varies but is commonly based on the clinical feature, existence of an endocrinopathy, and the pattern of inheritance, which can be either autosomal dominant or recessive. We herein report a rare case of familial CMCC. A family of a 42-year-old woman and her 17- and 12-year-old daughters commonly presented with a recurrent whitish plaque in the oral cavity for several years, and the mother and her 9-year-old son also had presented with dystrophic nails. They had no evidence of concomitant immunodeficiency or endocrinopathy. Candida albicans was commonly isolated from the oral lesion of the mother and two daughters. They were successfully managed with intermittent oral antifungal treatment.

Mucocutaneous candidiasis or psoriasis? A case report

Pustular psoriasis is a rare form of psoriasis in childhood. The prevalence of psoriasis in various parts of the world varies from 0.1% to 3% and the most frequently observed variant is the plaque type, followed by the guttate psoriasis. A 4-year-old boy with a history of repeated self-limited arthritis, onycholysis, recurrent erythematous skin, diaper rash, fever and pustular lesions, had several hospital admissions with no benefits. After a 2-year delay in the diagnosis, he was treated as a case of pustular psoriasis which was shown by skin biopsy

Polyglandular autoimmune syndrome-type I.

Polyglandular autoimmune syndrome type I is a rare disorder characterized by mucocutaneous candidiasis (MC), hypoparathyroidism (HP) and adrenal insufficiency , requiring regular follow up as the components of the syndrome appear at different age groups. We report a six and half year boy having this syndrome and presenting with MC, HP and ectodermal dystrophy.