ABSTRACT
Two siblings presented with straw-colored, frizzy, and wiry hair. They had no associated abnormalities and no family history of abnormal hair. Trichoscopy showed the longitudinal groove in the hair shafts, characteristic of uncombable hair syndrome. Molecular genetic analysis revealed a new pathogenic variant (c.1374dup; p. Val459ArgfsTer15) in PADI3, not previously described.
Subject(s)
Acne Keloid , Acne Vulgaris , Folliculitis , Skin Diseases , Humans , Acne Keloid/complicationsSubject(s)
Lentigo , Leukemia-Lymphoma, Adult T-Cell , Lymphoma, T-Cell, Cutaneous , Skin Neoplasms , Humans , Lymphoma, T-Cell, Cutaneous/chemically induced , Lymphoma, T-Cell, Cutaneous/diagnosis , Lymphoma, T-Cell, Cutaneous/drug therapy , Antibodies, Monoclonal, Humanized/adverse effects , Skin Neoplasms/chemically induced , Skin Neoplasms/diagnosis , Skin Neoplasms/drug therapy , Leukemia-Lymphoma, Adult T-Cell/pathologySubject(s)
Adjuvants, Immunologic/adverse effects , Cocaine/adverse effects , Levamisole/adverse effects , Purpura/diagnosis , Vasculitis/diagnosis , Vasoconstrictor Agents/adverse effects , Cocaine-Related Disorders/complications , Female , Humans , Middle Aged , Purpura/etiology , Vasculitis/etiologySubject(s)
Breast Neoplasms , Skin Neoplasms , Breast Neoplasms/radiotherapy , Breast Neoplasms/surgery , Dermoscopy , Female , Humans , Microscopy, ConfocalSubject(s)
Castleman Disease , Paraneoplastic Syndromes , Pemphigus , Thyroid Neoplasms , Autoantibodies , HumansSubject(s)
Alopecia/diagnosis , Dermoscopy , Hair Follicle/diagnostic imaging , Lupus Erythematosus, Discoid/complications , Adult , Aged , Aged, 80 and over , Alopecia/immunology , Alopecia/pathology , Biopsy , Cross-Sectional Studies , Female , Hair Follicle/pathology , Humans , Lupus Erythematosus, Discoid/immunology , Male , Middle AgedSubject(s)
Cyclosporine/therapeutic use , Immunosuppressive Agents/therapeutic use , Lymphohistiocytosis, Hemophagocytic/drug therapy , Lymphoma, T-Cell/drug therapy , Panniculitis/drug therapy , Skin Neoplasms/drug therapy , Adult , Female , Humans , Lymphohistiocytosis, Hemophagocytic/complications , Lymphohistiocytosis, Hemophagocytic/pathology , Lymphoma, T-Cell/complications , Lymphoma, T-Cell/pathology , Panniculitis/complications , Panniculitis/pathology , Skin Neoplasms/complicationsABSTRACT
Bullous pemphigoid (BP) is an acquired autoimmune bullous disease characterized by autoantibodies against the hemidesmosomal proteins found in the basal keratinocytes of the basement membrane zone (BMZ): a 180 kDa protein (type XVII collagen) mainly and the 230 kDa antigen. There is such evidence that the antibodies against the BMZ components are not only of IgG type, but also this bullous disease may have IgE antibodies directed to the BMZ that contribute to the pathogenesis of the disorder. IgE is not only thought to contribute to the pathogenesis of BP, it has also been suggested that eosinophils play a role in the development of the first signs associated with BP. A humanized monoclonal antibody directed to IgE, omalizumab, is approved for the treatment of severe asthma and chronic spontaneous urticaria, and it may be useful in the treatment of BP in the first stages of the disease.
