Subject(s)
Histiocytosis, Langerhans-Cell , Leukemia, Myelomonocytic, Chronic , Histiocytosis, Langerhans-Cell/complications , Histiocytosis, Langerhans-Cell/drug therapy , Histiocytosis, Langerhans-Cell/genetics , Humans , Leukemia, Myelomonocytic, Chronic/complications , Leukemia, Myelomonocytic, Chronic/drug therapy , Leukemia, Myelomonocytic, Chronic/genetics , Mutation , Proto-Oncogene Proteins B-raf/genetics , Vemurafenib/therapeutic useSubject(s)
Antibodies, Monoclonal, Humanized/therapeutic use , Dermatitis, Atopic/drug therapy , Immunoglobulin E/blood , Adult , Asthma/blood , Asthma/drug therapy , Asthma/epidemiology , Asthma/immunology , Comorbidity , Conjunctivitis, Allergic/blood , Conjunctivitis, Allergic/drug therapy , Conjunctivitis, Allergic/epidemiology , Conjunctivitis, Allergic/immunology , Dermatitis, Atopic/diagnosis , Dermatitis, Atopic/epidemiology , Dermatitis, Atopic/immunology , Female , Follow-Up Studies , Food Hypersensitivity/blood , Food Hypersensitivity/drug therapy , Food Hypersensitivity/epidemiology , Food Hypersensitivity/immunology , Humans , Immunoglobulin E/immunology , Male , Prospective Studies , Quality of Life , Rhinitis, Allergic/blood , Rhinitis, Allergic/drug therapy , Rhinitis, Allergic/epidemiology , Rhinitis, Allergic/immunology , Severity of Illness Index , Treatment OutcomeSubject(s)
Dermatologic Agents/therapeutic use , Psoriasis/drug therapy , Ustekinumab/therapeutic use , Adult , Female , Humans , Male , Middle Aged , Retrospective StudiesABSTRACT
BACKGROUND: Anaphylaxis is a severe, generalized, life-threatening reaction of rapid onset. We report the case of a patient presenting several systemic anaphylactic reactions over many years, initially ascribed to a cereals allergy but which finally proved to be due to systemic mastocytosis hidden for a long time. PATIENTS AND METHODS: A 53-year-old man consulted for an eruption consisting of monomorphic pigmented maculopapular lesions on the trunk associated with itching and urticaria. He was a farmer and presented severe sensitivity to cereals, with anaphylaxis, which continued despite withdrawal of these allergens. Skin and bone marrow infiltration, abnormal mast cells, positivity for c-kit 816 mutation and the persistent elevation of serum tryptase enabled a diagnosis of indolent systemic mastocytosis to be made. DISCUSSION: In systemic mastocytosis anaphylaxis is an expected complication relating to the proliferation of mast cells and a massive increase in mediator release (non-immunological mechanism). All patients with severe and recurrent anaphylaxis should be analyzed for underlying mastocytosis by careful physical examination and assay of baseline tryptase.
Subject(s)
Anaphylaxis/immunology , Immunoglobulin E/immunology , Mastocytosis, Systemic/immunology , Agricultural Workers' Diseases/etiology , Allergens , Anaphylaxis/etiology , Biopsy , Bone Marrow/pathology , Delayed Diagnosis , Diagnosis, Differential , Edible Grain/immunology , Humans , Hypersensitivity, Immediate/complications , Interferons/therapeutic use , Male , Mast Cells/pathology , Mastocytosis, Systemic/complications , Mastocytosis, Systemic/diagnosis , Mastocytosis, Systemic/drug therapy , Mastocytosis, Systemic/genetics , Middle Aged , Proto-Oncogene Proteins c-kit/genetics , Skin/pathology , Skin Tests , Stress, Psychological/complications , Tryptases/bloodABSTRACT
BACKGROUND: Hailey-Hailey disease (HHD) is a rare hereditary disease in which the genetic defect is characterized by mutation in the ATP2C1 gene coding for a transmembrane calcium pump. It is generally considered a non-immunologic acantholytic dermatosis in which direct and indirect immunofluorescence studies are negative, unlike in autoimmune pemphigus. PATIENTS AND METHODS: We describe a case of HHD associated with antidesmoglein antibodies in a 53-year-old woman. The clinical symptoms and histology were typical of HHD. Antidesmoglein antibody tests were positive on several occasions and a difference was found between the two types of Elisa test performed (positive with the MBL kit, negative with the Euroimmun kit). DISCUSSION: The positive result for desmoglein antibodies could be due to unmasking of antigens by the mechanism of acantholysis. The specificity of the main desmoglein Elisa tests also requires discussion.
Subject(s)
Autoantibodies/blood , Calcium-Transporting ATPases/genetics , DNA Mutational Analysis , Desmogleins/immunology , Pemphigus, Benign Familial/diagnosis , Pemphigus, Benign Familial/immunology , Acantholysis/diagnosis , Acantholysis/genetics , Acantholysis/immunology , Diagnosis, Differential , Enzyme-Linked Immunosorbent Assay/methods , Female , Fluorescent Antibody Technique, Indirect , Humans , Middle Aged , Pemphigus, Benign Familial/genetics , Pemphigus, Benign Familial/pathology , Predictive Value of TestsSubject(s)
Glomerular Filtration Rate/drug effects , Indoles/pharmacology , Kidney/drug effects , Protein Kinase Inhibitors/pharmacology , Sulfonamides/pharmacology , Adult , Aged , Albuminuria/epidemiology , Albuminuria/physiopathology , Female , Glomerular Filtration Rate/physiology , Humans , Incidence , Indoles/adverse effects , Indoles/therapeutic use , Kidney/physiopathology , Male , Melanoma/drug therapy , Melanoma/pathology , Middle Aged , Neoplasm Staging , Protein Kinase Inhibitors/adverse effects , Protein Kinase Inhibitors/therapeutic use , Proteinuria/epidemiology , Proteinuria/physiopathology , Retrospective Studies , Skin Neoplasms/drug therapy , Skin Neoplasms/pathology , Sulfonamides/adverse effects , Sulfonamides/therapeutic use , VemurafenibSubject(s)
Astrocytoma/complications , Pruritus/etiology , Spinal Cord Neoplasms/complications , Aged , Antipruritics/therapeutic use , Arm , Astrocytoma/diagnosis , Capsaicin/therapeutic use , Cervical Vertebrae , Female , Humans , Neural Conduction/physiology , Pruritus/drug therapy , Spinal Cord Neoplasms/diagnosisABSTRACT
Among causes of childhood purpura, other- or self-induced mechanical purpura, such as factitious purpura, needs to be considered. This cause is unfamiliar to pediatricians, usually compromising early diagnosis. We report on the cases of six children, seen between 1998 and 2014 at the Toulouse and Bordeaux Departments of Dermatology, presenting with a stereotypical linear purpura on the arms. All were females, aged 6-14 years. One patient had a psychiatric history, whereas the others were undergoing a stressful time period. All had several relapses and diagnosis was delayed in all. The patients presented with multiple oval or square purpuric macules, forming a discontinuous linear band. Some patients reported functional discomfort such as pain or pruritus. Lesions were always located on the arms and sometimes on other areas of the body. Biological assessments were normal and there was no vasculitis at skin histology. We retained the diagnosis of induced mechanical purpura. Psychological support was offered to four patients. One of them declared that the lesions were induced by classmates using suction. Another child declared that she caused the lesions herself, without explaining the mechanism. Outcome was favorable in five children (one was lost to follow-up), 1-4 years after diagnosis. In conclusion, induced mechanical purpura in children, although rarely described in the medical literature, must be kept in mind. Investigations should be carried out in cases with uncertain diagnosis. Underlying psychological distress should be sought.