The primary symptom of urticarial vasculitis (UV), which is a histopathological leukocytoclastic vasculitis disease, is an eruption that resembles urticaria. Other organs may also experience ...accompanying symptoms. Lung lesions with UV are mostly obstructive pulmonary disease with smoking. However, the coexistence of eosinophilic pneumonia (EP) and complicated UV remains unclear. We report a man in his 70s with chronic obstructive pulmonary disease who attended our department with ring-shaped erythema, marginal edema, and pigmentation. Additionally, a skin histological analysis showed nuclear dust and perivascular neutrophil infiltration, while a blood sample showed a decrease in C3 and C1q concentrations. Administration of prednisone temporarily improved the eruption. However, he developed a cough and a new UV eruption 1 year later. Computed tomography revealed infiltration in the right upper lobe of the lungs, and a blood sample showed a high eosinophil count. He was finally diagnosed with hypocomplementemic urticarial vasculitis syndrome and idiopathic chronic EP. A previous study showed that serum C1q concentrations in patients with EP were lower when this disease was active. Whether a decline in C1q concentrations can cause EP is unclear. However, our case is unique owing to the co-onset of EP with low complement concentrations and recurrence of UV.
Background:
Vascular-type Ehlers–Danlos syndrome (vEDS) is an autosomal dominant inherited disorder caused by a deficit in collagen III as a result of heterogeneous mutations in the α1 type III ...collagen gene (
COL3A1
). Patients with vEDS often experience the first major complications in their early 20s and >80% have at least one complication by their 40s, reducing their average life expectancy to 48 years. Most commonly, vEDS variants are heterozygous missense substitutions of a base-pair encoding a glycine (Gly) residue of the Gly-X-Y repeat of the
COL3A1
protein. When a peptide chain derived from a mutant allele is present in the procollagen triple helical structure, the helical structure cannot be maintained. Therefore, typically, the mutated collagen peptide induces a dominant negative effect on procollagen production. We reported the case of a patient with vEDS and a unique novel duplication mutation without alteration in the Gly-X-Y triplet repeat sequence.
Case presentation:
A 58-year-old man developed a sudden disorder of consciousness and abdominal pain and was consequently taken to a nearby hospital, where an intra-abdominal aneurysm was found, in addition to mild small joint hypermobility and acrogeria. There has been no history of spontaneous pneumothorax, dislocation, or subcutaneous hematoma. The analysis of genomic DNA from a blood sample identified a likely pathogenic in-frame duplication mutation in the
COL3A1
gene coding region. Interestingly, this mutation is not expected to alter the Gly-X-Y triplet repeat sequence. We verified the mutation’s pathogenicity by performing an analysis of synthetic procollagen from cultured skin fibroblasts, electron microscopy, and mRNA expression analysis of unfolded protein response sensors for endoplasmic reticulum (ER) stress.
Conclusion:
Although the clinical findings of the case were mild, when compared to typical vEDS, decreased α1 collagen III levels and morphological abnormalities of the collagenous bundles were observed in the patient samples when compared with the normal control samples. Our evidence supports the conclusion that this variant is pathogenic. However, unlike the common vEDS, ER stress was not observed, and the mild phenotype presentation was suggested to be due to the unique mutation, allowing the triple helical structure to be maintained to a certain extent.
A 47‐year‐old woman with mixed connective tissue disease was treated with abatacept. After 2 months, a 3‐cm depression with atrophied surface was observed on her back, which had histopathological ...consistent with the symptoms of localized scleroderma. Although some cases of paradoxical reaction or cutaneous adverse event have been reported from abatacept, no localized scleroderma has been reported, suggesting this to be a unique case.
Cartilage oligomeric matrix protein (COMP) is an abundant component in the extracellular matrix (ECM) of load-bearing tissues such as tendons and cartilage. It provides adaptor functions by bridging ...different ECM structures. We have previously shown that COMP is also a constitutive component of healthy human skin and is strongly induced in fibrosis. It binds directly and with high affinity to collagen I and to collagen XII that decorates the surface of collagen I fibrils. We demonstrate here that lack of COMP-collagen interaction in the extracellular space leads to changes in collagen fibril morphology and density, resulting in altered skin biomechanical properties. Surprisingly, COMP also fulfills an important intracellular function in assisting efficient secretion of collagens, which were retained in the endoplasmic reticulum of COMP-null fibroblasts. Accordingly, COMP-null mice showed severely attenuated fibrotic responses in skin. Collagen secretion was fully restored by introducing wild-type COMP. Hence, our work unravels a new, non-structural and intracellular function of the ECM protein COMP in controlling collagen secretion.
In this paper, we bring hope to patients with mycosis fungoides (MF) with CD30+ large‐cell transformation (LCT), which is often a histological marker of poor prognosis and is associated with a mean ...5‐year survival of <20%. Although skin biopsy is a painful procedure, it is the only test for early diagnosis of LCT. Stage IIB has a significantly worse 5‐year survival rate compared with stage IB/IIA, which often plagues clinicians regarding appropriate treatment selection. In this case, the discovery of LCT by skin biopsy prompted treatment with BV. Thus, proactive rebiopsy is important so that CD30+ LCT is not overlooked in the early stage of MF.
Abstract
There have been a few reported cases of erythema nodosum (EN) after coronavirus disease 2019 (COVID‐19) vaccination. A 48‐year‐old healthy woman was referred to our department with multiple ...erythematous nodules of varying sizes on her extremities 10 days after receiving the third COVID‐19 vaccine dose. The clinical and pathological findings of the patients were consistent with EN. We reviewed 18 EN cases post‐COVID‐19 vaccination. Considering the low number of reported EN cases, a causal link between EN and COVID‐19 vaccination is still under debate.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
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