Efficacy of topical gabapentin in women with primary macular amyloidosis: A side-by-side triple-blinded randomized clinical trial.

BACKGROUND: Primary cutaneous macular amyloidosis (PCMA) is a chronic pruritic cutaneous disease characterized by heterogeneous extracellular deposition of amyloid protein in the skin. AIMS: This study aimed to evaluate the efficacy of topical 6% gabapentin cream for the treatment of patients with PCMA. MATERIALS AND METHODS: In this triple-blind clinical trial, a total of 34 patients, who were diagnosed with PCMA, treated using two different strategies of topical gabapentin as the active group and vehicle cream as the control group. RESULTS: Pruritus score reduction in both groups was statistically significant compared with the baseline value (p < 0.001). There was a significant pigmentation score reduction in intervention group compared with control group after 1 month of the study (p < 0.001). The differences of pigmentation score changes between the groups were not significant at month 2 (p = 0.52) and month 3 (p = 0.22). CONCLUSIONS: The results of this study suggest that topical gabapentin cream may be effective as a topical agent in the treatment of pruritus associated with PCMA without any significant adverse effects. It is recommended to perform similar studies with a larger sample size and longer duration in both sexes.

Segmental stiff skin syndrome treated with secukinumab.

Segmental stiff skin syndrome is a rare fibrosing scleroderma-like disorder characterized by progressive indurations of the skin leading to joint contractures, decreased mobility, and pain. Treatment options are limited; we report a patient that showed improvement with anti-IL17 biologic therapy.

Classification and rising medication therapy in stiff skin syndrome: A case report and literature review.

Stiff skin syndrome (SSS) is a rare disorder characterized by skin induration and limited joint mobility in the absence of visceral, musculoskeletal, vascular, or immunologic abnormalities. Distinctive subsets of SSS could be distinguished by various manifestation and mechanism, which accounts for the high heterogeneity in SSS cases. Although rehabilitation training remains the mainstay of management, rising medications has drawn awareness in recent years, owing to the potential efficacy. Nevertheless, experience was limited, especially in widespread SSS. We report on a 5-year-old girl with widespread SSS, whose lesion stopped progressing after combination therapy by mycophenolic acid (MPA) and losartan (LST) in addition to rehabilitation exercise. Despite limited experience, a combined therapy of MPA and LST seems to be effective in retarding progression of widespread SSS.

[VEXAS syndrome : when do we have to consider it ?] / Syndrome VEXAS : quand y penser ?

VEXAS syndrome was recently discovered in patients who developed late in adulthood an inflammatory syndrome with fever, cytopenias, dysplastic bone marrow, cutaneous and pulmonary neutrophilic inflammation, arthritis, chondritis, or vasculitis. It is the result of an inactivating somatic mutation affecting methionine codon 41 of the UBA1 gene which encodes an ubiquitin activating enzyme (E1). Systemic corticosteroids generally reduce symptoms, while other immunosuppressive drugs only have limited long-term effects. Azacitidine is a promising treatment, but further studies are warranted. Here, we describe 2 new cases including one associated with pyoderma gangrenosum and cryoglobulinemia.

Le syndrome VEXAS (Vacuoles, E1 Enzyme, X-Linked, Auto- Inflammatory, Somatic Syndrome) a été récemment découvert chez des patients développant tardivement à l'âge adulte un syndrome inflammatoire associé à de la fièvre, des cytopénies, une moelle osseuse dysplasique, une inflammation neutrophilique cutanée et pulmonaire, des arthrites, des chondrites ou des vasculites. Il est le résultat d'une mutation somatique inactivatrice affectant le codon méthionine 41 du gène UBA1 qui encode une enzyme E1 activant l'ubiquitine. Les corticostéroïdes systémiques permettent généralement de diminuer les symptômes alors que les autres immunosuppresseurs ont un effet limité à long terme. L'azacitidine est l'un des traitements ayant démontré une efficacité, cependant de nouvelles études sont souhaitables. Nous décrivons ici 2 cas dont l'un est associé à un pyoderma gangrenosum et une cryoglobulinémie.

Comparison of the efficacy and safety of intralesional injection of tranexamic acid and the topical application of Kligman combination drug in the treatment of macular amyloidosis.

Macular amyloidosis (MA) is a common form of cutaneous amyloidosis that manifests as dark spots consisting of brown pigments with a rippled pattern on the skin, and the treatment of this condition is highly challenging. The aim of this study was to compare the efficacy and safety of intralesional injection of tranexamic acid (TXA) and topical application of Kligman combination drug in the treatment of macular amyloidosis. In this double-blind clinical trial, a total of 43 patients, who were diagnosed with MA, were treated with two different methods of intralesional injection of tranexamic acid and topical application of Kligman combination drug. Both therapeutic methods were effective in improving MA and significantly reduced hyperpigmentation of the treated areas, but tranexamic acid was significantly more effective than the Kligman combination drug. Significantly, greater improvements were observed in the group of patients treated with tranexamic acid. In the tranexamic acid treatment group, ΔE was reduced from 11.39 in the first session to 8.53 in the third session, and in the Kligman treatment group, it was reduced from 8.79 in the first session to 6.32 in the third session (p < 0.05). In addition, the pruritus score in patients treated with topical tranexamic acid injection was lower compared to the patients treated with the topical application of the Kligman combination drug. The results of this study demonstrated the significant positive effects of both treatment methods, but in terms of reducing melanin content, intralesional injection of tranexamic acid was a more effective method. Both treatments considered safe for MA. In tranexamic acid group, patients logically experienced a tolerable pain during injection but they significantly had significantly lower local pruritic discomfort during study. So, based on the positive findings of this study we suggest to use tranexamic acid in combination with other effective therapeutic methods for treatment of MA especially use of its topically applied form in combination with non-aggressive needling that results in better drug delivery without the experience of injection pain. Selection of the best administration route of tranexamic acid for hyperpigmented lesions depends on the each patient characteristic and their previous theraputic results that may vary case by case.

Azacitidine for patients with Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry.

Azacitidine can be effective in myelodysplastic syndromes (MDS) associated with inflammatory/autoimmune diseases. Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) is a new monogenic autoinflammatory syndrome caused by somatic ubiquitin-like modifier-activating enzyme 1 (UBA1) mutation, often associated with MDS, whose treatment is difficult and not yet codified. Based on a French nationwide registry of 116 patients with VEXAS, we report the efficacy and safety of azacitidine treatment in 11 patients with VEXAS with MDS. Clinical response of VEXAS to azacitidine was achieved in five patients (46%), during 6, 8+, 12, 21, 27+ months respectively, suggesting that azacitidine can be effective in selected patients with VEXAS and associated MDS.

Delayed-onset ligneous conjunctivitis as a rare association with congenital hydrocephalous: a case report and review of the literature.

Ligneous conjunctivitis is an uncommon form of chronic and recurrent conjunctivitis characterized by a thick, "woody," yellowish pseudomembranous lesion on the tarsal conjunctiva. Plasminogen deficiency plays an important role in this disease, which affects the mucous membranes, including the conjunctiva as well as other systemic organs. In rare cases, congenital hydrocephalus is associated with this disease. We present the case of a 21-year-old woman with delayed-onset bilateral ligneous conjunctivitis and a history of congenital hydrocephalous in infancy. She was treated with topical ophthalmic medication and surgical excision.

Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report.

BACKGROUND: Arterial Tortuosity Syndrome (ATS) is a rare autosomal recessive disorder characterized by elongated and tortuous arteries. Although ATS showed a significant clinical and pathophysiological overlap with other syndromes involving connective tissues, only few cases of cerebrovascular events related to this syndrome have been described so far. CASE PRESENTATION: We report the case of a 33-years-old male diagnosed with ATS since childhood, that experienced three sudden episodes of expressive aphasia and right hemiparesis with spontaneous resolution. He was treated with recombinant tissue plasminogen activator (r-TPA) at a dosage of 0.9 mg/kg with a complete recovery. Brain Magnetic Resonance Imaging (MRI) showed the absence of acute ischemic lesions and the patient was diagnosed with recurrent transient ischemic attacks (TIA). Intracranial and supra-aortic trunks Magnetic Resonance Angiography (MRA) and Angio-CT scan of the thoracic and abdominal aorta showed marked vessel tortuosity without stenosis. To our knowledge, this is the first reported case of an ATS patient with TIA in young age that was treated with intravenous thrombolysis with recombinant plasminogen activator. CONCLUSION: Our report strengthens the relationship between ATS and juvenile cerebrovascular events, suggesting that an extensive study of body vessels in order to detect potential stenoses or occlusions in these cases is needed. The greater predisposition to cerebrovascular events in ATS could benefit from a more aggressive primary and secondary prevention therapy.

Efficacy of hydroxychloroquine for treating annular erythema associated with Sjögren's syndrome.

Annular erythema is one of the cutaneous manifestations of Sjögren's syndrome (SS). Topical corticosteroids and tacrolimus, and oral corticosteroids, have been used as treatments for this condition. However, the safety and efficacy of these treatments remains unsatisfactory, and further development of therapies are desired. In this study, we performed a retrospective analysis of 16 annular erythema associated with SS (AESS) patients treated with hydroxychloroquine (HCQ). Disease activity was assessed using a modified version of the Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI), which we termed the modified CLASI (m-CLASI). HCQ treatment improved AESS lesions in all 16 patients. The mean m-CLASI score was reduced by 85.6% at the 12-week follow-up relative to baseline (p < 0.01). Notably, 60% (6/10 cases) of patients with AESS lesions limited to the facial area achieved complete remission within 4 weeks. In the analysis of six patients who had taken oral prednisolone before starting HCQ, all were able to reduce the dose within 52 weeks without relapse. Particularly, 75% (3/4 cases) of patients with prednisolone dose of more than 5 mg/day could reduce their dose to less than 5 mg/day in combination with HCQ. For the safety concerns, two patients experienced grade 1 diarrhea during the 52-week observation period. However, neither serious adverse events nor adverse events requiring discontinuation of treatment occurred. The results of the present study suggest that HCQ may not only be highly effective as a single agent, but may also be useful as a steroid-sparing agent in refractory case requiring long-term steroid administration, making it a good treatment option for AESS.