Rare Inflammatory Skin Disease Research Articles

Pityriasis lichenoides et varioliformis acuta - dilemmas in diagnosis and choice of therapy: A case report

Introduction. Pityriasis lichenoides et varioliformis acuta is a rare inflammatory skin disease of unknown etiology and its diagnosis is sometimes established by eliminating diseases that are considered in the differential diagnosis. Given the lack of randomized clinical trials, recommendations for therapy remain based on case reports and case series. Case Report. We present a 63-year-old female patient with generalized skin lesions including, papules, papulonecrotic lesions, and atrophic scars accompanied by a subjective feeling of itching that occurred 2 months before admission. The histopathological findings showed a mixed perivascular inflammatory cellular infiltrate and capillary blood vessels with thickened walls in the superficial part of the dermis as signs of vasculitis. The infiltrate was dominated by lymphocytes, neutrophils were admixed, but there were no signs of cellular atypia, which supported the clinical diagnosis of pityriasis lichenoides et varioliformis acuta. Therapy with systemic corticosteroids and doxycycline was applied, which led to the resolution of lesions. Conclusion. The authors would like to bring to the readers? attention a rare skin disease, pityriasis lichenoides et varioliformis acuta, point to papulonecrotic tuberculids in differential diagnosis due to similar clinical presentation, remind them of the dilemmas that may arise in case of the described lymphocytic vasculitis based on the findings of histopathological analysis, and highlight the effectiveness of doxycycline and prednisone in the therapy.

016 Molecular analysis of treatment-refractory pityriasis rubra pilaris uncovers an IL-1 signature with therapeutic proof-of-concept of the anti-IL-1 biological anakinra

Pityriasis rubra pilaris (PRP) is a rare inflammatory skin disease phenotypically presenting features within the spectrum of psoriasis and atopic eczema. The pathogenesis is not fully understood but an activation of the interleukin (IL)-23 T-helper (Th) 17 axis has been shown, which currently present as a promising treatment option. Here we present an in depth molecular analysis of cytokine tissue profiling (nanostring) of patients with PRP (during and post-inflammation) comparing to plaque- type psoriasis, atopic dermatitis and healthy controls.

Misdiagnosis of Pyoderma Gangrenosum Increases Medical Costs and Prolongs Hospital Stay: A Case Report.

Pyoderma gangrenosum (PG) is a rare, immunological ulcerative, and necrotic inflammatory skin disease that can be easily misdiagnosed as cellulitis, abscess, diabetic foot ulcer, and other infectious diseases. Misdiagnosing PG leads to unnecessary surgical incision and debridement, which further exacerbates the lesion, ultimately leading to longer treatment periods and higher medical costs. Therefore, early and accurate diagnosis of PG is extremely important for its treatment. In particular, PG should be suspected in patients with inflammatory bowel disease.

The role of negative pressure wound therapy (NPWT) on the treatment of pyoderma gangrenosum: A systematic review and personal experience.

Pyoderma gangrenosum (PG) is a rare painful ulcerative neutrophilic inflammatory skin disease, necessitating a high level of diagnostic suspicion associated with appropriate treatment to avoid progression. Negative pressure wound therapy (NPWT) has been efficiently used in the treatment of different types of wounds. However, the role of NPWT in the management of PG is still controversial, due to the risk of the pathergy phenomenon. In this article, we conducted a systematic review (according to the PRISMA guidelines) on the use of NPWT in the treatment of PG, and we report our personal experience with two patients treated with this device. The result of the review showed that articles on the topic are, in their entirety, of low levels of evidence, such as case series, case reports, and reviews. Improvement in wound healing with the use of NPWT was observed in 85.1% of the patients studied. Besides, a significant association between improvement in wound healing with NPWT and immunosuppressive therapy was observed. Regarding the cases reported here, both showed good outcomes with the use of NPWT and skin graft during the treatment of PG injuries. Due to the rarity of PG, there is a scarcity of studies with robust evidence for standardization and comparison between treatments, which consequently makes it difficult to select therapeutic options. However, based on this systematic review and reported cases, we consider NPWT a safe option for adjuvant treatment of wounds caused by PG if combined with systemic immunosuppression, which plays a key role in greater chances of successful treatment. This approach should be recommended, whenever possible, associated with skin grafting to accelerate wound closure. The role of negative pressure wound therapy (NPWT) on the treatment of pyoderma gangrenosum: a systematic review and personal experience.

Granulomatous Rosacea in Korean Patients: Diagnosis Based on Combining Clinical and Histological Findings

Background: Granulomatous rosacea (GR) is a rare inflammatory skin disease, which is considered a variant of rosacea, apart from other types of rosacea. Objective: This study aimed to summarize the characteristics of Korean patients diagnosed with GR by combining clinical and histological findings. Methods: Fifteen cases, both clinically and histologically consistent with GR, were selected and were subsequently analyzed to describe clinical and histological characteristics. Results: A total of 20 patients showed granulomatous infiltration in skin biopsies, but only 15 of them were clinically consistent with GR. Five patients who showed granulomatous inflammation were clinically consistent with erythematotelangiectatic or papulopustular rosacea. Among 15 patients, 13 (86.7%) were female and 2 (13.3%) were male. The most frequently involved area was the cheek, and none of the patients showed extrafacial lesions. There seems to be a possibility that treatment duration may be associated with the treatment response. Conclusions: This study confirms clinical characteristics of GR based on the diagnosis combining both clinical and histological findings.

Treatment of acrodermatitis continua of Hallopeau: A case series of 39 patients.

Acrodermatitis continua of Hallopeau (ACH) is a rare chronic inflammatory skin disease. Treatment is extremely challenging and mostly based on empirics as there is only scarce evidence from case reports and few small case series. In this retrospective study, patients with ACH treated at five university medical centers were analyzed according to patient and disease characteristics and treatment experience. We identified 39 patients with ACH with a mean age of 54.4years at onset, of whom 22 (56.4%) were female. A total of 115 systemic treatment courses were analyzed with methotrexate as the most common therapy (27.0%). Overall, effectiveness of systemic treatments was low (excellent response rate: 14.8%). Among non-biologics, excellent response was noted in 21.1% (4/19) of treatment courses with methotrexate, followed by acitretin (13.3%; 2/15). Among biologics, guselkumab (excellent response: 100%; 2/2), secukinumab (excellent response: 42.9%; 3/7) and adalimumab (excellent response: 20.0%; 2/10) were most efficacious. The median drug survival was 7.0months and did not differ significantly between the subgroup of non-biologic and biologic therapies. To our knowledge, this is the largest case series in ACH investigating patient characteristics and treatment outcomes. Based on our treatment experience, we suggest a treatment algorithm starting with acitretin or methotrexate as first-line therapy, followed by biologics. Cyclosporin may be used for short-term control. However, none of the applied systemic therapies yielded satisfying efficacy in our cohort. In patients with primary non-response, switch of treatment should be evaluated timely on an individual basis, considering possible irreversible disease complications such as nail loss. More research with prospective design is needed to further evaluate traditional and also particularly newer antipsoriatic drugs in ACH.

A rare complication of ulcerative colitis in children: Pyoderma gangrenosum

Pyoderma gangrenosum (PG) is a rare inflammatory skin disease mainly characterized by ulcers. More than half of the PG is associated with systemic diseases like inflammatory bowel disease. About 4% of PG is seen during childhood. Here we report a 12-year-old girl presented with fever and bloody diarrhea and who developed a painful leg ulcer during follow up period and diagnosed as ulcerative colitis.

Successful Treatment of Pityriasis Rubra Pilaris with Brodalumab

Pityriasis Rubra Pilaris (PRP) is a rare inflammatory skin disease with highly variable clinical appearance. Treatment of PRP remains a challenge and has been mostly guided by case reports and case series. We report the first case of pityrisis rubra pilaris that is successfully treated with combination therapy of brodalumab and methotrexate.

Syndrome de Wells mimant une cellulite bactérienne : un piège diagnostique et thérapeutique

Wells syndrome (WS), also called eosinophilic cellulitis is a rare inflammatory skin disease with about 200 cases reports in the literature. It is part of eosinophilic dermatoses and presents a diagnostic challenge. We report a case of WS presenting as bacterial cellulitis. A 59 year-old woman was referred to our department with a 10-day history of a rapidly extending erysipelatoid rash of the left upper limb, non-responding to oral antibiotics. Upon physical examination, erythema with swelling and blisters were found on the left upper limb with urticarial-like lesions on the breast, the belly and on the inner thighs. The patient was admitted with presumed bacterial cellulitis and was treated with intravenous ampicillin. Blood count showed raised eosinophils (2050/ul) along with a biological inflammatory syndrome. Biopsies were performed on both bullous and urticarial-like lesions showing perivascular and interstitial inflammatory infiltrate, made essentially of eosinophils with flame figures. The diagnosis of WS was made and the patient received local and oral corticosteroids (0,5mg/kg/d) with good evolution. The rarity and clinical manifestations of WS makes it sometimes difficult to differentiate between a WS and a bacterial cellulitis. However, biological and histological findings can help the clinician make the differential diagnosis between these two diseases for a better management.

Neutrophil exosomes enhance the skin autoinflammation in generalized pustular psoriasis via activating keratinocytes.

Generalized pustular psoriasis (GPP) is a rare and severe inflammatory skin disease that can be life-threatening. Gene mutations are found in some cases, but its immune pathogenesis is largely unknown. Here, we observed that the neutrophil:lymphocyte ratio in patients with GPP was higher than that in healthy controls and decreased after effective treatment. Neutrophils isolated from patients with GPP induced higher expressions of inflammatory genes including IL-1β, IL-36G, IL-18, TNF-α, and C-X-C motif chemokine ligands in keratinocytes than normal neutrophils did. Moreover, neutrophils from patients with GPP secreted more exosomes than controls, which were then rapidly internalized by keratinocytes, increasing the expression of these inflammatory molecules via activating NF-κB and MAPK signaling pathways. The proteomic profiles in neutrophil exosomes further characterized functional proteins and identified olfactomedin 4 as the critical differentially expressed protein that mediates the autoimmune inflammatory responses of GPP. These results demonstrate that neutrophil exosomes have an immune-regulatory effect on keratinocytes, which modulates immune cell migration and autoinflammation in GPP.-Shao, S., Fang, H., Zhang, J., Jiang, M., Xue, K., Ma, J., Zhang, J., Lei, J., Zhang, Y., Li, B., Yuan, X., Dang, E., Wang, G. Neutrophil exosomes enhance the skin autoinflammation in generalized pustular psoriasis via activating keratinocytes.

Bilateral acquired blaschkoid dermatitis

A 68 year old man presented with a striking non-dermatomal, linear and whorled dermatitis consistent with acquired blaschkoid dermatitis (ABD) involving the bilateral upper and lower lateral extremities. ABD is a rare unilateral self-limited inflammatory skin disease and we are unaware of other reports of bilateral ABD.

Pityriasis rubra pilaris: algorithms for diagnosis and treatment.

Pityriasis rubra pilaris (PRP) is a rare inflammatory skin disease that affects men and women of all ages and also children. The clinical appearance of PRP is highly variable, as is the individual prognosis. Therefore, stratifying PRP into six disease subtypes represents a first step to personalized medicine for this rare inflammatory skin disease. The next step should be to associate specific therapeutic strategies with these subtypes of PRP. However, no randomized, controlled trials on the treatment of PRP have been performed. Consequently, the actual treatment algorithm for PRP will be based on clinical experience, small case series and case reports. The majority of published evidence is on type I PRP, whereas the treatment experience for other clinical types of PRP is still sparse and has to be gained. Nevertheless, it is now time to start developing valid algorithms as a basis for the diagnosis and treatment of PRP based on the data available. This review makes use of algorithms developed in psoriasis and atopic eczema and puts together recent insights into the pathogenesis, diagnosis and treatment experience of PRP. The innovative intention of this appraisal is to develop a structured algorithm for PRP treatment that should be further developed going forward.

Management of refractory pityriasis rubra pilaris: challenges and solutions.

Pityriasis rubra pilaris (PRP) is a rare chronic inflammatory papulosquamous skin disease. Its clinical presentation and evolution is very variable. The most frequent clinical features are follicular papules, progressing to yellow-orange erythroderma with round small areas of normal skin and the well-demarcated palmoplantar keratoderma. Actually, six different types of PRP have been described based on clinical characteristics, age of onset, and prognosis. The pathogenesis is still unknown, and treatment can be challenging. Available treatments are mainly based on case reports or case series of clinical experience because no controlled randomized trials have never been performed because of the rarity of the condition. Traditional systemic treatment consists in retinoids, which are actually considered as first-line therapy, but refractory cases that do not respond or relapse after drug interruption do exist. In recent years, numerous reports have demonstrated the efficacy of new agents such as biological drugs. This article is an overview on available therapeutic options, in particular for refractory forms of PRP.

Granulomatous rosacea: a case report

BackgroundGranulomatous rosacea is a rare chronic inflammatory skin disease with an unknown origin. The role of Demodex follicularum in its pathogenesis is currently proved.Case presentationWe report a case of a 54-year-old Moroccan man with a 3-month history of erythematous, nonpruritic papules on the lateral side around the eyes. Dermoscopy and histology confirmed the diagnosis of granulomatous rosacea.ConclusionsWe describe another clinical presentation of granulomatous rosacea with a clinical-dermoscopic-pathological correlation.

Pyoderma Gangrenosum: A Current Problem as Much as an Unknown One.

Pyoderma gangrenosum (PG) is a rare neutrophilic inflammatory skin disease, characterized by recurrent skin ulcers, which in almost 50% of cases are associated with systemic autoimmune disorders, including rheumatoid arthritis, chronic hepatitis, inflammatory bowel disease, paraproteinemias and hematological malignancies. A systematic search of literature for PG was carried out using the PubMed, Embase, and Google Scholar databases for the purpose of this review and 2780 articles were retrieved up to February 2017. Inflammation represents the predominant aspect of the disease, but its pathophysiological mechanisms are not completely clear yet, since there are many studies showing only one or more isolated findings of the disease. The goal of PG treatment is to reduce inflammation in order to promote ulcer healing by minimizing side effects of therapy. Several systemic and local treatments are available, but the lack of large randomized double-blind studies results in an absence of a uniform therapeutic standard: thus, more clinical studies are required in order to make head-to-head comparisons between combination and single-drug therapies and to identify specific combination therapies for distinctive clinical patterns of PG.

Pustular psoriasis: an update on genetics

Pustular psoriasis is not a rare inflammatory skin disease, and is characterized by sudden onset of generalized erythema and sterile pustules complicated by chills, high fever, neutrophilia and elevated levels of C-reactive protein. Due to frequent recurrence, it greatly impacts the quality of life in patients. Recently, it has been gradually found that IL36RN, CARD14 and AP1S3 mutations are associated with the occurrence of pustular psoriasis, and accordingly some new therapeutic approaches have emerged. This review summarizes recent advances in genetics of pustular psoriasis. Key words: Psoriasis; Receptors, interleukin; Mutation; IL36RN; CARD14; AP1S3

Pyoderma Gangrenosum Following External Fixation

Introduction: Pyoderma gangrenosum (PG) is a rare inflammatory skin disease, which is characterized by extensive ulcerative skin necrosis. The probable cause of PG is neutrophilic infiltration. In postoperative patients, the disease is often misdiagnosed as infection and the patient therefore undergoes improper treatment. Case Presentation: We report a case of PG following the external fixation of femoral and tibial fractures in a patient who underwent eight months of unsuccessful antibiotic therapy, as well as repeated wound irrigation and debridement. Conclusions: When a histopathological study was at last performed, the diagnosis of PG was confirmed and the patient was successfully treated using corticosteroids.

Treatment of eosinophilic cellulitis (Wells syndrome) - a systematic review.

Eosinophilic cellulitis (Wells syndrome) is a rare inflammatory skin disease defined by erythematous, tender, sometimes urticarial plaques, possibly with vesicles and bullae, and granulomatous eosinophilic infiltrates in the dermis. Usually the disease has a benign course with spontaneous remission within a few weeks. Nevertheless, recurrences are quite frequent and may occur for several years. The objective of this study was to review the so far reported treatment options for Wells syndrome in a systematic manner. This systematic review is based on a search on Medline, Embase and Cochrane Central Register for English and German articles from 1970 to 2015. Advices on the treatment of Wells syndrome are limited predominately to case reports or to small case series. There are no randomized controlled trials, and control groups are missing. A variety of treatment options for Wells syndrome were reported including topical and systemic corticosteroids, antihistamines, cyclosporine, dapsone, azathioprine, griseofulvin, doxycycline, minocycline, antimalarial medications, oral tacrolimus/topical tacrolimus, sulfasalazine, interferon alpha and gamma, TNF alpha inhibitors, colchicine and PUVA therapy. As well-designed, randomized controlled trials are missing, no guidelines for the treatment of this disease can be given. Due to the small number of patients and the frequent misdiagnosis of this clinical entity, the aim of this systematic overview is to call attention to this rare condition and to help clinicians to diagnose and treat Wells syndrome effectively. Due to the good prognosis and tendency to resolve, systemic treatment should be limited to cases resistant to local therapy or with widespread lesions.

Granuloma Annulare-like Wells Syndrome in a Child - A Case Report

Abstract Wells syndrome (WS) is a rare inflammatory skin disease of unknown etiology. Possible triggers for WS include insect bites/stings, infections, medications, malignancies, and vaccination. Most cases have been reported in adults, but WS may also occur in children. We report a case of idiopathic WS in a 12-year-old boy, who presented with pruritic papulonodular and granuloma annulare-like lesions on his legs. The patient had an excellent response to topical and systemic corticosteroids. WS may present as plaque, granuloma annulare-like, urticaria-like, papulovesicular, bullous, papulonodular, or fixed drug eruption-like lesions. Erythematous annular lesions are most common in adults, while plaques are mostly found in children. The histopathologic features are dynamic, starting with dermal edema and infiltration of eosinophils, then flame figures develop, and finishing with the appearance of histiocytes and giant cells. Our patient represents a rare pediatric case with granuloma annulare-like WS syndrome.

Fox-Fordyce Disease: An under-diagnosed adverse event of laser hair removal?

Fox-Fordyce Disease (FFD) is a rare chronic inflammatory skin disease of the apocrine glands, mainly affecting post-pubertal women. It involves apocrine gland-bearing areas including the axilla, areola, anogenital area and umbilicus. FFD induced by laser hair removal is a newly reported entity of unknown pathogenesis. To the best of our knowledge, there are only four reported cases in the literature describing a total of four patients. We are reporting the first case series of laser-induced FFD with a histopathological and clinical evaluation of the reported cases. A review of the available literature to date about laser-induced FFD was performed. Clinical and histopathological features were reviewed. In our case series, the clinical and histological appearance of FFD following laser hair removal is similar to that of classic FFD. Exacerbating factors were present in two patients, and were similar to that of classic FFD. The main histopathological features included dilatation of the follicular infundibulum, follicular hyperkeratosis, dyskeratosis in the follicular infundibulum, periductal lymphohistiocytic infiltrate and perifollicular fibrosis. Two of the four reported cases as well as one of our patients had no perifollicular xanthomatous inflammation, a hallmark feature of classic FFD. Mast cells were absent in all reported cases, as well as in our patients. We believe that laser-induced FFD is under-diagnosed as a newly reported adverse event of laser hair removal. It is clinically and histopathologically similar to classic FFD.