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).
Adrenal Insufficiency ; Autoimmune Diseases ; Candidiasis, Chronic Mucocutaneous ; Child ; Ectoderm ; Female ; Follow-Up Studies ; Humans ; Hypoparathyroidism ; Polyendocrinopathies, Autoimmune

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.
Alleles ; Bronchi ; Bronchiectasis* ; Candidiasis, Chronic Mucocutaneous ; Chronic Disease ; Female ; Heterozygote ; Humans ; Immune System ; Inflammation ; Korea* ; Nontuberculous Mycobacteria ; Parents ; Respiratory Tract Infections* ; STAT1 Transcription Factor ; Young Adult

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.
Antibodies ; Antibodies, Antinuclear ; Candida ; Candidiasis ; Candidiasis, Chronic Mucocutaneous* ; Candidiasis, Oral ; Child ; Diagnosis ; Exanthema ; Exome ; Fluconazole ; Genetic Background ; Hepatitis ; Hepatitis, Chronic* ; Humans ; Hypothyroidism* ; Immunoglobulin G ; Immunoglobulins ; Immunologic Tests ; Infant ; Lupus Erythematosus, Systemic* ; Male ; Mouth ; Mucous Membrane ; Pharynx ; Rare Diseases ; Skin ; Thyroid Diseases ; Thyroxine

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.
Burns ; Candida ; Candida albicans ; Candidiasis, Chronic Mucocutaneous ; Dermis ; Female ; Fingers ; Humans ; Lichen Planus ; Lichens ; Lip ; Lymphocytes ; Mucous Membrane ; Nails ; Onycholysis ; Recurrence ; Sensation ; Skin ; Yeasts

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.
Autoimmune Diseases ; Candidiasis, Chronic Mucocutaneous ; Humans ; Immune System ; Immunity, Cellular ; Lymph Nodes ; Nails ; Oropharynx ; Skin ; Suppuration ; Tuberculosis, Cutaneous

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.
Adult ; Candida ; Candida albicans ; Candidiasis, Chronic Mucocutaneous ; Child ; Female ; Humans ; Mothers ; Mouth ; Nails ; Nuclear Family ; Oropharynx ; Skin ; Wills

Chronic mucocutaneous candidiasis (CMCC) is a general term used to denote a complex group of disorders characterized by a recurrent and persistent infection of the skin, mucous membranes and nails with organism of the genus candida, most frequently Candida albicans. It is often associated with an endocrinopathy and cell mediated immunopathy. CMCC is not a single disease entity, but rather a final common pathway for multiple predisposing abnormalities of the immune system that ranges from severe, life-threatening immunodeficiency syndromes to subtle deficiencies, especially of cell mediated immunity. Conditions that have been associated with CMCC include; candida esophagitis or laryngitis, endocrinopathies (usually hypoparathyroidism, hypadrenalism, hypothyroidism), circulating autoimmune antibodies, diabetes mellitus, vitiligo with antibodies to melanocytes, iron deficiency, chronic active hepatitis, pernicious anemia, malabsorption, alopecia totalis, dental enamel dysplasia, keratoconjunctivitis, pulmonary fibrosis, KED syndrome (keratitis, ichthyosis, and deafness), and recurrent pyogenic, viral or other fungal infections. When CMCC first appaears in adulthood, it is often associated with a thymoma. There is virtually no propensity for disseminated, visceral candidiasis. A suitable clinical classification of the major subtypes of CMCC was described by Lehner and Wells et al into six groups. Kirkpatrick et al found the mean age of onset of CMCC to be 3 years and both boys and girls are affected equally. We review CMCC and 5 reported CMCC cases in the dermatologic literatures in Korea.
Age of Onset ; Alopecia ; Anemia, Pernicious ; Antibodies ; Candida ; Candida albicans ; Candidiasis ; Candidiasis, Chronic Mucocutaneous* ; Classification ; Dental Enamel ; Diabetes Mellitus ; Esophagitis ; Female ; Hepatitis, Chronic ; Humans ; Hypoparathyroidism ; Ichthyosis ; Immune System ; Immunity, Cellular ; Iron ; Keratoconjunctivitis ; Korea* ; Laryngitis ; Melanocytes ; Mucous Membrane ; Pulmonary Fibrosis ; Skin ; Thymoma ; Vitiligo

Candidiasis is an acute or chronic infection caused most commonly by Candida albicans and occasionally by other species of the genus Candida. The superficial cutaneous candidiasis is varied; oral Candidiasis, perieche, candidal vulvovaginitis, candidal balanitis, candidal intertrigo, erosio interdigitalis blastomycetica, perianal candidiasis, candidal paronychia, candidal onychia, chronic mucocutaneous candidiasis, congenital cutaneous candidiasis, and candidid. Diagnosis can be made by typical appearance of the clinical lesions and the presence of satellite vesicopustules. This can be confirmed by KOH examination and culture of skin scrapings. Treatment is the correction of predisposing factors, topical therapy of imidazoles and/or systemic administration of itraconazole or fluconazole.
Balanitis ; Candida ; Candida albicans ; Candidiasis ; Candidiasis, Chronic Mucocutaneous ; Candidiasis, Cutaneous* ; Candidiasis, Oral ; Causality ; Diagnosis ; Fluconazole ; Imidazoles ; Intertrigo ; Itraconazole ; Male ; Paronychia ; Skin ; Vulvovaginitis

The polyglandular autoimmune(PGA) syndrome designate as the dysfimction of endocrine and nonendocrine systems involving two or more organs on the basis of an autoimmune mechanism. There are 3 types of PGA syndrome and their etiology or pathogenesis is still not complete by understood. Type I PGA is present in the patients who have at least two of the triad of Addison's disease, hypopacathyroidism, and chronic mucocutaneous candidiasis. Type II PGA is present in the those who have Addisons disease with autoimmune thyroid disease and/or insulin dependent diabetes mellitus, but who do not have hypoparathyroidism or candidiasis. Type III PGA is present in the one who have autoimmune thyroid disease, without Addisons disease, but with another autoimmune disease report a case of autoimmune polyglandular syndrome type II in a seventy-three years old female patient who had primary adrenal insufficiency, primary hypothyroidism, and empty sella, pulmonary tuberculosis.
Addison Disease ; Autoimmune Diseases ; Candidiasis ; Candidiasis, Chronic Mucocutaneous ; Diabetes Mellitus ; Female ; Humans ; Hypoparathyroidism ; Hypothyroidism ; Insulin ; Polyendocrinopathies, Autoimmune ; Thyroid Diseases ; Tuberculosis, Pulmonary

A 6-year-old male patient had been suffering from angular cheilitis and paronychia with fragmentation and dystrophic change of the finger nails. Laboratory findings showed low serum iron level and anemia. Immunologic studies revealed defects in cell mediated immunity. KOH examination and culture of specimens from the lesions showed hyphal elements and growth of Candida albicans respectively. Concomitantly itraconazole and iron sulfate were administered. Four months after treatment he was free of any clinical evidence of the disease.
Anemia ; Candida albicans ; Candidiasis, Chronic Mucocutaneous* ; Cheilitis ; Child ; Fingers ; Humans ; Immunity, Cellular ; Iron ; Itraconazole ; Male ; Paronychia