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Characteristics and evolution of extraintestinal manifestations associated with ulcerative colitis after proctocolectomy.

AIMS: Describe the characteristics of extraintestinal manifestations complicating ulcerative colitis present preoperatively and determine their evolution after surgery. METHODS: Between 1976 and 1986, 281 patients with ulcerative colitis exhibiting one or more extraintestinal manifestations (EIM) before either IPAA (n = 147), Brooke ileostomy (n = 71), Kock pouch (n = 48) or ileorectostomy (n = 15) were assessed retrospectively. The clinical evolution of each manifestation was classified as having disappeared, improved, remained unchanged or aggravated postoperatively. An efficacy index was designed to assess the ratio of the number of cases cured or improved over the number of cases unchanged or aggravated. The relationship between EIM and gender, age, duration of disease and the type of surgery was also ascertained. RESULTS: 433 EIM were observed in 281 patients. The most common were arthralgias of the large joints (n = 146), of the sacroiliac joint (n = 59) and the small joints (n = 51). In comparison to patients without EIM having received the same operation during the same period of time, EIM were seen more often in women, younger patients, than those with longer duration of disease and the ileoanal anastomosis group. 60% had only one EIM at a time. Based on the efficacy index, thromboembolic accidents and erythema nodosum were the most commonly cured or improved. Ocular manifestations and primary sclerosing cholangitis were unaffected. The other EIM responded favorably but variably with improvement in two thirds of patients. The presence of a rectal remnant (IRA) or ileal reservoir did not affect the evolution of the EIM. CONCLUSIONS: Thromboembolic complications which are life-threatening, erythema nodosum and arthralgia of the small and large joints which impair quality of life, benefited the most from proctocolectomy. Those conditions may be considered preoperatively when making the decision for surgery.

Adult↗

Topical treatment of pyoderma gangraenosum.

The treatment of pyoderma gangraenosum (PG) is still a therapeutic challenge. Although several drugs such as corticosteroids, dapsone, clofazimine, azathioprine, tacrolimus and cyclosporine A have been shown to be effective in this disease, side-effects of these agents limit their systemic use in seriously ill patients. In recent years, topical treatment of the disease has gained attention. Several reports show an improvement of cutaneous lesions of PG following topical treatment. These earlier reports as well as our own observations suggest that topical therapeutic regimens can be a useful and safe alternative to systemic immunosuppressive therapy in the treatment of PG. We give a review about these topically used drugs and the mechanisms probably involved.

Administration, Cutaneous↗

Pyoderma-gangraenosum-like ulcers associated with lupus anticoagulant.

A 45-year-old women presented with a deep ulcerative lesion of the left breast. Two months later, a new cutaneous necrotic lesion located in the right pretibial areas was observed. The only serum abnormality was the presence of circulating lupus anticoagulant. Clinical features suggested the diagnosis of pyoderma gangraenosum and histologic examination showed microthrombosis in the dermal capillary vessels adjacent to a dense, mixed inflammatory infiltrate with some degree of vascular damage. Although thrombosis may be the result of vasculitis, it is likely that in our patient the presence of a lupus anticoagulant activity played a role in the pathogenesis of the cutaneous ulcers.

Breast↗

Cutaneous manifestations in Kartagener's syndrome: folliculitis, nummular eczema and pyoderma gangraenosum.

We report the case of a 47-year-old male with Kartagener's syndrome (KS; situs inversus, bronchitis and sinusitis) who showed three types of cutaneous lesions: recurrent outbreaks of nummular eczema, recurrent deep folliculitis and two episodes of pyoderma gangraenosum. The patient had also IgA gammopathy of undetermined significance. This is the second case of KS associated with cutaneous lesions published so far and suggests that primary ciliary dyskinesia syndromes may have skin symptoms.

Eczema↗

Trio-based whole-exome sequencing identifies convergent epithelial junction-related pathways in syndromic hidradenitis suppurativa.

INTRODUCTION: Hidradenitis suppurativa (HS)-related autoinflammatory syndromes, simply termed as syndromic HS (sHS), represent a group of rare immune-mediated inflammatory disorders in which HS coexists with systemic or cutaneous autoinflammatory features like PASH (pyoderma gangrenosum-PG-, acne and HS), PAPASH (PASH, pyogenic arthritis), PASS (PG, acne, HS, and ankylosing spondylitis), and SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis). In recent years, genetic studies identified several novel pathogenic variants underlying sHS; however, most investigations rely exclusively on affected individuals sequencing and the absence of parental genomic information limits the possibility to determine inheritance patterns. METHODS: To address these gaps, we performed trio-based whole-exome sequencing (WES) on five individuals diagnosed with sHS and their unaffected parents. RESULTS: The pathway related to epidermal adhesion and desmosome organization was the most represented across our cohort, encompassing seven genes: DSC3, DSG1, FAT1, LAMA3, MICALL2, PLEC and TJP2. Integrin-extracellular matrix (ECM) adhesion signaling pathway, represented by ten genes (CSPG4, FERMT3, ITGA3, LAMA3, LAMA5, LIMS2, LTBP3, PLEC, TGM2, TNC) was also retrieved. Also, variants affecting innate immune pathways, including cytokine signalling and antigen presentation, have been observed. CONCLUSION: Our exploratory findings suggest that genetically heterogeneous variants in syndromic HS converge on biological processes involving epithelial junction organisation, extracellular matrix interactions and innate immune regulation. Although not establishing a unique pathogenic mechanism, these observations identify epithelial barrier biology as a candidate pathway warranting validation in larger cohorts and functional studies.

Journal Article↗

Mycophenolate mofetil and skin diseases.

Mycophenolate mofetil (MMF) is an immunosuppressive drug the efficiency of which has been established in renal transplantation. Recent studies suggest that it may also be effective in the treatment of variant skin diseases especially if the skin lesions are triggered by lymphocytes. Studies have shown efficacy in autoimmune bullous dermatoses, atopic dermatitis and psoriasis. However, there are no placebo-controlled trials that support the use of MMF as first line therapy in these skin diseases.

Dermatitis, Atopic↗

Radiological associations with dermatological disease.

Skin disease and its treatment may have radiological connotations. Though this article is not a comprehensive account of dermatological and radiological associations, it provides an eclectic selection of some common and some rare clinical entities, which the practicing radiologist may recognize or remember.

Arthritis, Psoriatic↗

Uncommon causes of leg ulceration and lesions not to be missed.

While the vast majority of cases of leg ulceration are the result of venous and/or arterial disease, and occur in older people, there are several other, less common conditions that can lead to leg ulceration, often in younger people. This article examines the diagnosis and management of some of these conditions, almost all of which will require referral for specialist assessment and treatment.

Cellulitis↗

An introduction to various types of leg ulcers and their management.

There are many reasons for tissue breakdown in the leg, and each cause requires a different treatment to either correct the abnormality or to manage the symptoms that cause the patient distress. The pathway to appropriate treatment relies on a working knowledge of anatomy and physiology and good assessment. This article aims to provide a basic knowledge in how to recognize different leg ulcer types.

Arterial Occlusive Diseases↗

The diagnosis and treatment of pyoderma gangraenosum.

Pyoderma gangraenosum is a rare condition and its symptoms are often misdiagnosed. This article presents of an overview of this form of ulceration, and includes a case study showing how it was diagnosed and treated in a patient following an arthroscopy to the left ankle.

Aged↗

Asymptomatic inflammatory bowel disease presenting with mucocutaneous findings.

Although inflammatory bowel disease (IBD) typically presents with gastrointestinal complaints, mucocutaneous lesions are commonly associated and can precede gastrointestinal symptoms, thereby alerting the clinician to the diagnosis of IBD before the onset of gastrointestinal symptoms. Nine children are reported who had no gastrointestinal symptoms suggestive of IBD but presented with mucocutaneous findings of IBD and were subsequently diagnosed with Crohn's disease or ulcerative colitis based on characteristic features on gastrointestinal endoscopy and/or biopsies. The majority of the patients had oral and perianal lesions. We believe that IBD is a common etiology for persistent oral lesions in the pediatric population. In addition to a good history, children with unexplained oral mucous membrane lesions should have an examination of the rectal and genital mucosa as well as tests for complete blood count, iron levels, sedimentation rate, albumin, and occult blood in the stool with endoscopy and biopsies to rule out IBD if indicated.

Child↗