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Light and heavy chain deposition disease (LHCDD) is a clonal plasma cell or monoclonal B-cell dyscrasia characterized by deposition of monoclonal immunoglobulin light and heavy chains. LHCDD mainly belongs to monoclonal gammopathy of renal significance (MGRS), including a spectrum of kidney disorders caused by a monoclonal protein (M-protein) secreted by a small plasma cell clone or other B-cell clones in patients who do not meet the diagnostic criteria for multiple myeloma or other B-cell malignancies. It may also occur as a renal complication of overt multiple myeloma. We report a 27-year-old man who presented clinically with chronic nephritic syndrome and was diagnosed with LHCDD confirmed by renal biopsy, accompanied by hypocomplementemia and bronchiolitis obliterans (BO). Notably, he initially developed acquired cutis laxa (CL) four years before renal dysfunction. Progressive dermatologic manifestations prompted repeat skin biopsies, revealing deposition of γ1 heavy chains, restrictive lambda light chains and complement components (C3, C4 and C1q) along dermal elastic fibers, establishing monoclonal gammopathy of dermatologic significance (MGODS) before systemic involvement. This case illustrates a rare constellation of MGRS, MGODS, and BO in a young adult and provides unique histologic and serologic evidence of classical complement pathway activation. Our findings support a potential immune-mediated mechanism underlying tissue injury in both renal and extrarenal manifestations of monoclonal gammopathy, highlighting the diagnostic value of early tissue biopsy and the importance of complement assessment in such cases.

Introduction Tracheobronchomegaly (Mounier-Kuhn Syndrome) is a rare disease characterized by tracheal enlargement and associated loss of elastic fibers in the trachea and main bronchi. Materials MEDLINE, Index Medicus, and other databases were searched with pre-defined criteria to identify cases of tracheobronchomegaly (TBM). Two new cases of TBM were also identified from the Provincial Medical Genetics Program of British Columbia. Results We identified 166 publications describing 365 occurrences of TBM. We observed that affected individuals could be grouped into subgroups according to clinical features. Type 1A (105 individuals) consists of infants who developed TBM after having undergone fetoscopic tracheal occlusion, and Type 1B patients (24 individuals) are infants and children who developed TBM after prolonged intubation. Type 2 individuals developed TBM following recurrent pulmonary infections (2A) (14 individuals) or pulmonary fibrosis (2B) (10 individuals). Type 3 represents TBM with evidence of extra-pulmonary elastolysis (18 individuals), and Type 4 denotes the development of TBM with no clear predisposing factors (196 individuals). Both of our patients had TBM and evidence of extra-pulmonary elastolysis. As well, one patient had a mildly dilated aortic root, which is a previously unreported co-occurrence. Conclusion We introduce a novel classification scheme, which may sort patients into etiologically distinct groups, furthering our understanding of its pathogenesis and potentially, prevention or therapy. We also hypothesize that TBM and generalized elastolysis may have etiological commonalities, suggesting a need for further study.

Background Cutis laxa is a connective tissue disease characterized by loose, wrinkled, and redundant skin. It is either inherited or acquired. In most cases, acquired cutis laxa is associated with neoplasms, drugs, and autoimmune diseases. We present a rare case of acquired cutis laxa following a recurrent urticaria-like eruption in the absence of an autoimmune disease, neoplasm, drugs and or syndrome. Case presentation We report a case of a 45-year-old Chinese lady with a 1-year history of widespread pruritic urticarial eruption and a 6-month history of progressive skin wrinkling. On examination, the patient appeared older than her actual age, with apparent wrinkling on the mid-torso with generalized smooth, erythematous macules and wheals. A family history of similar conditions was absent. Biopsy revealed hypersensitivity and atrophy. Following the Food and Drug Administration (FDA) guidelines, we administered antihistamines, which relieved the itching, but her hyperpigmentation and cutis laxa never improved. Conclusion Our case shows that the decrease of elastic fibers may be associated with the infiltration of inflammatory cells in the dermis. This supports the hypothesis that chemical mediators may play a major role in the destruction of elastic fibers, thus causing cutis laxa. In addition, we advise practitioners to take a complete clinical and family history to determine if the condition is inherited or acquired.

Background: Acquired cutis laxa is a rare disease characterized by sagging skin, premature wrinkling and reduced skin elasticity. Observation: We report a 21-year-old woman, who presented with acquired cutis laxa on the face and the ear lobes. Urticarial papules had preceded for 6 years. There was no systemic involvement. Skin specimens were obtained from lax skin and urticarial papules, and from healthy controls. Histology showed only few perivascular lymphocytes in lax ear skin and a dense inflammatory infiltrate in urticarial skin. In both biopsies elastic fibres were decreased as demonstrated by computerized morphometric analyses. Elastase activities of fibroblasts in culture were evaluated. There was a 2- to 3-fold increase in elastase activity in urticarial skin fibroblasts, contrasting with a normal elastase activity in lax ear skin. Conclusion: Our findings suggest that the inflammatory cells could play a significant role in the destruction of elastic fibres.

Cutis laxa is an uncommon connective tissue disorder affecting the elastin fibers leading to lax and pendulous skin and in generalized form can present with systemic involvement. Congenital cutis laxa is common in comparison to acquired cutis laxa and has varied inheritance patterns. Treatment is chiefly observation in congenital cutis laxa, and there is a paucity of literature on surgical management in acquired cutis laxa. We report a rare case of acquired localized cutis laxa with a review of literature on the role of plastic surgery in this condition.

Cutis laxa is a rare disease that may be either inherited or acquired. The acquired form is rarer than the inherited form. Pathogenesis of this disease is largely unknown. Two cases of acquired cutis laxa are reported here and neither of them had any systemic involvement or any history of drug intake. One of them had localized disease with history of preceding cutaneous inflammation. The other patient with generalized lesion lacked any history of preceding illness. The patient with localized lesion was treated satisfactorily by reconstructive surgery. The other patient had generalized involvement, for which no satisfactory treatment could be offered.