Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis
| Autor: | Bruno Dallapiccola, D. C. Salpietro, Massimo Mangino, Rita Mingarelli, Silvana Briuglia, Sebastiano Gangemi, G Bisignano, V Toscano, M V Merlino, D Zuccarello |
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| Jazyk: | angličtina |
| Rok vydání: | 2002 |
| Předmět: |
Adult
Male Adolescent Hyperkeratosis Mucocutaneous zone Consanguinity Hand Dermatoses Chronic Candidiasis Immunopathology Onychomycosis Genetics medicine Humans Chronic mucocutaneous candidiasis Candida albicans Genetics (clinical) Mycosis Aged Family Health Foot Dermatoses biology business.industry Candidiasis Chronic Mucocutaneous Infant Middle Aged medicine.disease biology.organism_classification Intercellular Adhesion Molecule-1 Pedigree Child Preschool Immunology Female business Letter to JMG |
| Zdroj: | Scopus-Elsevier |
| Popis: | Chronic mucocutaneous candidiasis (CMC) includes a group of rare disorders with altered immune responses, selective against Candida, characterised by persistent and/or recurrent infections of the skin, nails, and mucous membranes, caused by organisms of the genus Candida, mainly Candida albicans . Familial occurrence of CMC was originally reported by Wells et al ,1 who described both males and females affected and consanguinity in a number of their pedigrees. The classification of CMCs is based on clinical features and pattern of inheritance, which can be either autosomal dominant or recessive (table 1). Most CMC types have an early age of onset, affect skin, nails, and mucous membranes, and are associated with altered phagocytosis and chemotaxis. The classical form of CMC does not include endocrinological diseases, which represent a major component of the immune polyendocrinopathy syndrome (APECED, MIM *240300), caused by mutations of the autoimmune regulator gene ( AIRE ) on chromosome 21q22.3.2,3 View this table: Table 1 Classification of CMCs We describe a distinct form of familial chronic candidiasis (FCNC), characterised by early onset infections caused by different species of Candida, restricted to the nails of the hands and feet, associated with low serum concentration of intercellular adhesion molecule I (ICAM-1). The family originates from a rural village in Sicily and includes 11 affected subjects in five generations (fig 1). Based on clinical and anamnestic records, III.8 was the first affected member of this family. She developed nail dystrophy, presenting with hyperkeratosis and dark and thick nails, similar to those found in other family members. IV.5, a 71 year old female, was unaffected. V.4, a 48 year old female, was a blood relative of her husband. From the age of 6 months, she was affected by onycomycosis caused by Candida involving all the nails of her hands and feet (figs 2 and 3). Caustication was … |
| Databáze: | OpenAIRE |
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