Subject(s)
Desmoglein 1/immunology , Desmoglein 1/metabolism , Pemphigus/immunology , Adult , Autoantibodies , Humans , Male , Pemphigus/pathologyABSTRACT
BACKGROUND: Eosinophilic annular erythema (EAE) has been proposed as a clinical entity to describe annular skin lesions associated with tissue eosinophilia. However, systematic investigations on the histopathology of EAE have not been performed, and useful histopathological findings for diagnosis of EAE remain unknown. OBJECTIVE: The aim of this study was to investigate the clinicopathological features of EAE. METHODS: We retrospectively studied 10 patients at our hospital during a 5-year span who clinically showed annular or figurate lesions and histopathologically exhibited eosinophilic infiltration in the dermis. RESULTS: Nine of the 10 cases had annular lesions with pigmentation on the interior side. Blood eosinophilia was found in only one patient. Histopathologically, basal melanosis was observed in nine cases. Infiltration of eosinophils was confined to the dermis in nine cases. Patients treated with systemic corticosteroid tended to show less recurrence than those treated with topical corticosteroid. LIMITATIONS: The main limitation of our study is the small number of patients. CONCLUSION: Skin biopsy should be performed when EAE is suspected, even in cases without blood eosinophilia. Basal melanosis and tissue eosinophilia confined to the dermis suggest the diagnosis of EAE. We recommend topical corticosteroids as the initial treatment for EAE.
Subject(s)
Eosinophilia/diagnosis , Erythema/diagnosis , Melanosis/pathology , Skin Diseases, Genetic/diagnosis , Skin Pigmentation , Adult , Aged , Eosinophilia/pathology , Erythema/pathology , Female , Humans , Male , Middle Aged , Retrospective Studies , Skin Diseases, Genetic/pathologySubject(s)
DNA/genetics , Epidermolysis Bullosa Simplex/diagnosis , Keratin-5/genetics , Mutation , Skin/ultrastructure , Adult , DNA Mutational Analysis , Disease Progression , Epidermolysis Bullosa Simplex/genetics , Epidermolysis Bullosa Simplex/metabolism , Female , Humans , Infant , Keratin-5/metabolism , Male , Microscopy, Electron, Transmission , Pedigree , PhenotypeSubject(s)
Epidermodysplasia Verruciformis/genetics , Facial Dermatoses/genetics , Hand Dermatoses/genetics , Membrane Proteins/genetics , Mutation/genetics , RNA Splice Sites/genetics , Consanguinity , Epidermodysplasia Verruciformis/pathology , Facial Dermatoses/pathology , Hand Dermatoses/pathology , Homozygote , Humans , Male , Middle AgedABSTRACT
BACKGROUND: Mutations in LIPH are a cause of autosomal recessive woolly hair (ARWH). Homozygous c.736T>A (p.Cys246Ser), and compound heterozygous c.736T>A and c.742C>A (p.His248Asn) have been reported in 5 and 7 Japanese children with ARWH respectively. The severity of hypotrichosis is known to be able to change in the clinical course, and the mutation patterns of LIPH do not always correlate with the severity of hypotrichosis in ARWH caused by other mutation sites of LIPH. However, all 12 Japanese children previously reported to have ARWH have shown similar severity of hypotrichosis. OBJECTIVE: In this study, we investigated the clinical features and molecular basis of ARWH in patients including three adults (three adults and two children) from five non-related Japanese families. METHODS: Five families of Japanese origin that presented with woolly hair were studied. The phenotype was confirmed by clinical examination. Direct automated DNA sequencing of the LIPH gene was performed to identify the mutations in our probands. RESULTS: All patients had had woolly hair since birth. Homozygous c.736T>A mutations were found in four patients, including three adult cases, and compound heterozygous c.736T>A and c.742C>A mutations were found in one child patient. The two adults and two children had only sparse scalp hair, although one adult woman had mild hypotrichosis with long hairs. CONCLUSION: Some patients with homozygous c.736T>A can have a mild hypotrichosis phenotype with long hairs in adulthood.
Subject(s)
Hair Diseases/genetics , Hypotrichosis/genetics , Lipase/genetics , Mutation , Adult , Asian People/genetics , Child, Preschool , Female , Hair/abnormalities , Hair Diseases/complications , Humans , Hypotrichosis/etiology , Male , Severity of Illness IndexSubject(s)
Connexins/genetics , Deafness/genetics , Genes, Modifier/genetics , Ichthyosis/genetics , Keratin-17/genetics , Keratitis/genetics , Mutation/genetics , Adult , Connexin 26 , Female , Heterozygote , HumansABSTRACT
Mucous membrane pemphigoid (MMP) is a mucous membrane-dominated, subepidermal autoimmune blistering disease in which autoantibodies usually react with the C-terminal domain of type XVII collagen (COL17) or with laminin-332. Only a few cases of MMP with widespread blisters have been reported. Serologically, IgA and IgG class autoantibodies directed against COL17 or IgG autoantibodies directed against laminin-332 in patients with MMP have been well documented. MMP cases in which IgA reacts with laminin-332, however, are extremely rare. We report a case of MMP in a 67-year-old man. Clinical examination revealed extensive mucosal lesions as well as generalized blisters and erosions that healed with scar formation. The disease was intractable to treatment with systemic steroids. Interestingly, in addition to IgG directed against laminin-332 and the noncollagenous 16A (NC16A) and C-terminal domains of COL17, circulating IgA reacting with laminin-332 and with the NC16A domain of COL17 was also detected. This is the first MMP case with circulating IgA and IgG autoantibodies against both laminin-332 and COL17.
Subject(s)
Autoantibodies/immunology , Autoantigens/immunology , Immunoglobulin A/immunology , Immunoglobulin G/immunology , Laminin/immunology , Non-Fibrillar Collagens/immunology , Pemphigoid, Benign Mucous Membrane/immunology , Aged , Blister/immunology , Humans , Immunoblotting , Male , Microscopy, Fluorescence , Collagen Type XVIIABSTRACT
BACKGROUND: Antilaminin-332 mucous membrane pemphigoid (MMP) is a chronic autoimmune bullous disease that is often associated with internal malignancy. IgG autoantibodies against laminin-332 in patients with MMP are well documented; however, IgA and IgE autoantibodies against laminin-332 have not yet been described. OBJECTIVES: To characterize IgA and IgE autoantibodies binding to laminin-332 in sera from patients with antilaminin-332 MMP. METHODS: Sera and skin samples from four patients who met the following criteria were used: (i) subepidermal blistering lesions present on the mucous membranes; (ii) in vivo deposition of IgG along the epidermal basement membrane zone of sampled skin; (iii) circulating IgG antibasement membrane zone antibodies that react with the dermal side of salt-split normal human skin; and (iv) circulating IgG autoantibodies that do not show positivity against type VII collagen or 200-kDa protein (p200 antigen) in immunoblot analysis using dermal extracts. Circulating IgG/IgA/IgE class autoantibodies against laminin-332 were determined by immunoblotting. RESULTS: Circulating IgG autoantibodies against the gamma2, alpha3/gamma2, alpha3 and alpha3/beta3/gamma2 subunits of laminin-332 were demonstrated in sera from four patients, respectively. Serum from one of the four patients showed IgA reactivity with the alpha3/beta3/gamma2 subunits of laminin-332. Serum from one of the four patients showed IgE reactivity with the gamma2 subunit of laminin-332. The control sera failed to display IgG/IgA/IgE reactivity to laminin-332. CONCLUSIONS: In addition to IgG autoantibodies, circulating IgA and IgE autoantibodies against laminin-332 are detectable in a subset of patients with antilaminin-332 MMP.
