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The authors describe the case of a 63-year-old female patient with a history of left mastectomy due to breast adenocarcinoma at the age of 45 years and a neuroendocrine tumour of the terminal ileum diagnosed 3 months before the appearance of diffuse skin lesions. Her medical history also included

A 61-year-old Caucasian female patient presented with erythematous–violaceous purpuric macules and punctiform papules, involving the dorsum of the feet and the legs, evolving for 1 month. The lesions were mildly pruritic and non-blanchable ([figure 1][1]). Her medical history includes

Budd-Chiari syndrome (BCS) is an obstruction of hepatic venous flow at any level, from small hepatic veins to the junction of the inferior cava vein and the right atrium. Studies report that BCS is associated with prothrombosis. The authors present a review of the topic based on a case report of BCS where several risk factors are involved. These factors were genetic, such as mutation of the plasminogen activator inhibitor with 4G polymorphism and acquired, such as ulcerative colitis and oral contraceptives.

A 70-year-old female Caucasian patient presented with a 7 year-history of extensive yellow papules and macules scattered over the trunk and upper limbs, with mild pruritus ([figure 1][1]). ![Figure 1][2] Figure 1 Extensive yellow papules and macules scattered over the trunk and upper limb

OBJECTIVE Exanthema in drug reaction with eosinophilia and systemic symptoms (DRESS) has no specific clinical diagnostic hallmark and there are few histopathologic studies. The aim of this study was to describe dermal-epidermal histopathologic features in DRESS and correlate them with the culprit drug, viral reactivation, or systemic organ involvement. METHODS Skin biopsies were independently evaluated by 2 dermatopathologists who characterized the main histological patterns and scored dermal and epidermal changes, which were further correlated with clinical and laboratorial data. RESULTS In 15 DRESS patients (9 male/6 female patients, mean age 53.3 years), the main observation was lymphocyte exocytosis (1.87 ± 1.25), spongiosis (0.93 ± 0.94), scattered keratinocyte necrosis (1.70 ± 1.44), basal cell vacuolization (2.13 ± 1.42), lymphocyte infiltration around dermal vessels (2.93 ± 0.92) or at the dermal-epidermal junction (2.07 ± 1.12), often with eosinophils and extravasated erythrocytes, swollen endothelial cells, and intravascular neutrophils but no vasculitis. Histopathologic patterns were classified mainly as spongiotic (5), erythema multiforme-like (3), or lichenoid (2). There was a significant positive correlation between the intensity of lymphocyte infiltration and the severity of hepatic cytolysis (r = 0.51; P < 0.05) and eosinophilia (r = 0.51; P < 0.05). No correlation was observed between the intensity and type of dermal inflammation and the degree of epidermal damage or the culprit drug. Human herpes virus type 6-positive patients had a pseudolymphomatous reaction or a perifollicular localization of the infiltrate. CONCLUSIONS Histopathology in DRESS is variable with no specific diagnostic aspect, but there is a possible correlation between the intensity of the lymphocyte infiltrate and DRESS severity, namely, liver cytolysis.

Summary Background Schnitzler syndrome (SchS) is an acquired autoinflammatory disease characterized by chronic urticarial rash in association with monoclonal gammopathy. Patients may progress to lymphoproliferative disorders, but the associated factors and exact risk of progression are still not well defined. Aim To characterize the clinical findings, laboratory abnormalities and histopathology of patients with SchS and their respective outcomes. Methods We retrospectively reviewed the clinical files and the histological specimens of patients with SchS diagnosed from 1988 to 2015. Results Nine patients (two women, seven men) were diagnosed with SchS. Mean age at diagnosis was 61.1 years (range 29–80), with a mean time to diagnosis of 3.7 years and a mean follow-up period of 10.1 years (range 3–25). Four patients displayed an association of fever and arthralgia, and all nine patients consistently showed laboratory markers of inflammation. Serum values of the monoclonal component, IgMκ in eight patients and IgGλ in one patient, progressively increased over time. During follow-up, carried out in association with the haematology department five patients progressed to lymphoproliferative disease, namely, lymphoplasmacytic lymphoma/Waldenstrom's macroglobulinaemia (n = 4) and diffuse large B-cell lymphoma (n = 1). Conclusions SchS is a rare chronic inflammatory disease with a substantial impact on quality of life. Our study highlights the importance of lifelong follow-up for individuals with SchS, owing to the risk of progression to a lymphoproliferative disorder.

A 71 year-old male patient presented with an erythematous nodular lesion, with 1 cm of diameter, on the lateral aspect of the left heel, evolving for 2 years. He also had surrounding oedema, fever and pain of acute onset without signs of abscess formation, consistent with an uncomplicated cellulitis

Rosai-Dorfman disease is a benign histiocytic proliferative disorder of unknown etiology. The disease mainly affects lymph node tissue, although it is rarely confined to the skin. Here, we describe a 53-year-old woman with purely cutaneous Rosai-Dorfman disease. The patient presented with a large pigmented plaque on her left leg, and sparse erythematous papules on her face and arms. A complete clinical response was achieved with thalidomide, followed by recurrence at the initial site one year later. The histological examination displayed the typical features of Rosai-Dorfman disease in the recent lesions but not in the older lesions. In the setting of no lymphadenopathy, the histopathological features of Rosai-Dorfman disease are commonly misinterpreted. Therefore, awareness of the histological aspects present at different stages, not always featuring the hallmark microscopic signs of Rosai-Dorfman disease, is particularly important for a correct diagnosis of this rare disorder.

Non-steroidal, anti-inflammatory drugs, followed by antibiotics, are the main causes of fixed drug eruption. They provoke one or several round erythematous or bullous lesions that recur in the same place after taking the causative medication. A positive patch test on residual, lesional skin can replace satisfactorily oral reintroduction. We describe the case of a 74-year-old woman with numerous, rounded, erythematous lesions on the trunk and recurrent blistering on the fifth right-hand finger, which developed a few hours after taking etoricoxib. Lesional patch testing with etoricoxib was positive and reproduced the typical pattern of a fixed drug eruption upon histopathology. We emphasize the specific reactivity of the etoricoxib patch test, and the capacity to reproduce the histologic pattern of the reaction.

Squamous cell carcinoma of the lower lip is frequent, and radical excision sometimes leads to complex defects. Many lip repair techniques are aggressive requiring general anesthesia and a prolonged post-operative period. The nasolabial flap, while a common flap for the repair of other facial defects, is an under-recognized option for the reconstruction of the lower lip. We describe the use of nasolabial flap for the repair of a large defect of the lower lip in a ninety year-old male, with good functional results and acceptable cosmetic outcome. We believe the nasolabial flap is a good alternative for intermediate-to-large lower lip defects in patients with impaired general condition.

Multiple minute digitate hyperkeratosis is a rare, non-follicular dermatosis, with fewer than 30 cases described worldwide. It can be either acquired or inherited in an autosomal dominant pattern. We describe the case of an 83-year old patient with life-long, multiple, digitate, milimetric lesions, and a positive family history for the same dermatosis.

SummaryBackground Clinical trials have shown the efficacy of omalizumabs efficacy in refractory chronic spontaneous urticaria (CSU) and chronic inducible urticaria (CIndU), but real-life management strategies are lacking. Aim To assess the long-term efficacy and safety of omalizumab, and to identify predictive factors and optimum dosage regimens. Methods This was a prospective study of 13 patients (11 women, 2 men) with severe CSU [weekly urticaria activity score (UAS7) > 28] resistant to anti-H1 antihistamines. Patients were started on omalizumab 150 mg subcutaneously every 4 weeks. Dose and interval between administrations were adjusted according to clinical response (189 administrations; treatment duration range 2–38 months). Results Mean UAS7 was 36.3 ± 5.4. Of the 13 patients, all had experienced angio-oedema, while in addition, 7 had delayed pressure urticaria (DPU) and 1 had solar urticaria (SU). After omalizumab treatment, 4 (30.8%) of the 13 patients had complete response (CR), and the remaining 8 (61.5%) had partial response. CR was achieved with a dose of 150 mg every 4 (n = 2 patients) or 5 (n = 2) weeks. One of these patients remained disease-free after stopping treatment. Partial responses were achieved with 150 mg every 4 weeks (n = 4) and with 300 mg (n = 4) at intervals of 5 weeks (n = 1), 4 weeks (n = 2) or 3 weeks (n = 1). Only one patient (7.7%) did not show significant improvement, despite a dose of 300 mg every 4 weeks. There were no significant differences in epidemiological, clinical and laboratory data between the different response groups. Only two adverse events were observed: one was mild headache and the other was severe angio-oedema and aggravation of urticaria within 6 h of omalizumab administration. Conclusion Omalizumab dose and interval between administrations could be individualized for long-term management of CSU.

Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant disorder caused by a mutation in the keratin 2 gene and clinically characterized by mild hyperkeratosis, superficial blisters and shedding, referred to as the moulting phenomenon. We report a case of SEI in an 18-month-old girl presenting with marked hypertrichosis. Although not invariably present, we believe that hypertrichosis can be an important clue for diagnosis.

A fotossensibilidade induzida por fármacos traduz uma resposta cutânea anormal à luz em indivíduos expostos a um fármaco, os quais, na sua ausência, tolerariam o mesmo grau de fotoexposição. Pode ocorrer como uma reação aguda ou retardada, assumindo características clínicas polimórficas que variam desde a queimadura solar exagerada até aspectos de fotoonicólise, pseudo- -porfíria, pigmentação, eczema agudo e lúpus eritematoso cutâneo. Os autores descrevem os fármacos mais frequentemente envolvidos neste tipo de reações e as formas clínicas mais frequentes e discutem o possível contributo destes fármacos na potenciação da fotocarcinogénese. O reconhecimento d estes padrões clínicos de fotossensibilidade e dos fármacos responsáveis é fundamental para a evicção do fármaco causal e consequente melhoria ou resolução da reação de fotossensibilidade.

SummaryBackground Inpatients with cutaneous adverse drug reactions (CADR) with overlapping features between maculopapular exanthema (MPE) and drug reaction with eosinophilia and systemic symptoms (DRESS) were examined. Objectives To characterize patients with exanthema and few systemic symptoms not meeting the criteria for DRESS [overlapping MPE–DRESS (MP/DR)]. Methods We undertook a comparative analysis of clinical and laboratory features of patients with MPE, MP/DR and DRESS (2008–12). Results We identified 132 inpatients (85 women/47 men, mean age 64·0 ± 17·7 years) with CADR, 37 with DRESS, 28 with MPE, 34 with MP/DR and 33 with other patterns. There were no significant differences in sex, age or concomitant diseases. Allopurinol was the main cause of DRESS (40·5%) and MP/DR (29·4%); antimicrobials were the main cause in MPE (35·7%). In MP/DR the latency period (18·06 ± 13·17 days) was significantly longer than in MPE but shorter than in DRESS. Although hospitalization time was similar to DRESS (13·26 ± 7·41 days), duration of therapy and follow-up in MP/DR was shorter. Exanthema/erythroderma were frequently associated with facial oedema in MP/DR (73·5%) and DRESS (89·2%) but only in 42·0% of patients with MPE. MP/DR histopathology showed keratinocyte vacuolization and perivascular and interstitial infiltrate of lymphocytes, eosinophils and neutrophils, similar but milder than in DRESS, with less interface dermatitis, exocytosis and spongiosis. DRESS was associated with liver involvement (78·4%) and eosinophilia (78·4%), but only in 64·7% and 11·8%, respectively, of patients with MP/DR. Conclusions An overlapping pattern between MPE and DRESS was identified and characterized. There may be a continuum spectrum between MPE and DRESS.

Background: Psychiatric disorders are often difficult to evaluate and sometimes have negative connotations associated. That could be a reason to ignore the correct diagnosis of underlying neurological diseases.Case report: We present a case report of a patient with psychiatric symptomatology, where during the study in the Emergency Department an acute hydrocephalus secondary to a massive meningioma was evidenced.Conclusions: This case exemplifies how psychiatric symptoms, often devalued by the physician, may be the first manifestation of serious neurological disorders, as well as being associated with a medical emergency, as in this case was the acute hydrocephalus.

Author(s): Gameiro, Ana; Gouveia, Miguel; Tellechea, Oscar; Goncalo, Margarida | Abstract: Linear IgA bullous dermatosis (LABD) is a rare autoimmune blistering disease. LABD is considered mostly idiopathic, butsome cases have been reported to be drug-induced, mainly associated with vancomycin (VCM).We present two cases of LABD possibly associated with VCM used for cardiac surgery prophylaxis; in the presented cases, the eruptions occurred only after VCM withdrawal, therefore leaving a question about the relationship between VCM and LABD in these cases.We reviewed previous reports of VCM-induced LABD and analyzed the following parameters: gender, age, recent medical history, concurrent medication, latency period, progression after withdrawal, time to resolution, treatment, and rechallenge.Results: The causal relationship between VCM and LABD was often unclear; patients frequently had concurrent medication and symptoms frequently began and/or progressed after VCM withdrawal. Among the 46 reviewed patients in addition to our two cases (n=48), 20 (42%) had recent history of cardiac procedure, cardiac infection, congestive heart failure, or aortic aneurism.Conclusion: Further investigation is needed to ascertain the association between LABD, VCM, and heart disease.

Benign follicular tumors comprise a large and heterogeneous group of neoplasms that share a common histogenesis and display morphological features resembling one or several portions of the normal hair follicle, or recapitulate part of its embryological development. Most cases present it as clinically nondescript single lesions and essentially of dermatological relevance. Occasionally, however, these lesions be multiple and represent a cutaneous marker of complex syndromes associated with an increased risk of visceral neoplasms. In this article, the authors present the microscopic structure of the normal hair follicle as a basis to understand the type and level of differentiation of the various follicular tumors. The main clinicopathological features and differential diagnosis of benign follicular tumors are then discussed, including dilated pore of Winer, pilar sheath acanthoma, trichoadenoma, trichilemmoma, infundibuloma, proliferating trichilemmal cyst/tumor, trichoblastoma and its variants, pilomatricoma, trichodiscoma/fibrofolliculoma, neurofollicular hamartoma and trichofolliculoma. In addition, the main syndromes presenting with multiple follicular tumors are also discussed, namely Cowden, Birt-Hogg-Dubé, Rombo and Bazex-Dupré-Christol syndromes, as well as multiple tumors of follicular infundibulum (infundibulomatosis) and multiple trichoepitheliomas. Although the diagnosis of follicular tumors relies on histological examination, we highlight the importance of their knowledge for the clinician, especially when in presence of patients with multiple lesions that may be the cutaneous marker of a cancer-prone syndrome. The dermatologist is therefore in a privileged position to recognize these lesions, which is extremely important to provide further propedeutic, appropriate referral and genetic counseling for these patients. info:eu-repo/semantics/publishedVersion

Background: Brooke-Spiegler syndrome (BSS) is probably an underdiagnosed genodermatosis that predisposes for the development of cylindromas, spiradenomas and trichoepitheliomas mainly of the head and neck. Wide phenotypic variability regarding the number and type of lesions can be observed within a family. Mutations of the CYLD gene are identified in the vast majority of cases and play a key role in BSS pathogenesis. Main observations: Two first degree relatives with numerous erythematous telangiectatic nodules of the scalp present for decades, with recurring tendency regardless the multiple previous excisions. Histopathological review of the lesions revealed predominantly "spiradenocylindromas" in the proband and cylindromas in her sister. The suspicion of BSS was confirmed after detection of a new nonsense germline mutation of CYLD (c.1783C>T pGln 595*) in the proband. Conclusions: BSS diagnosis can be challenging and is based on clinical-pathological correlation, positive familial association and identification of CYLD mutations. CYLD exerts antineoplastic effects by downregulating intracellular NF-κB signalling pathways. The reported mutation affecting the ubiquitin-specific protease domain leads to a truncated and catalytically inactive enzyme. Despite the expanding list of CYLD mutations no firm genotype-phenotype correlation is known so far. Early recognition and treatment of BSS avoid disfiguring changes like "turban tumor". ( J Dermatol Case Rep . 2015; 9(3): 67-70)

Summary Background HLA-B*58:01 is associated with allopurinol-induced severe cutaneous adverse drug reactions (sCADR) particularly in Han Chinese, but the risk in European populations has seldom been studied. Objective To study the association of HLA-B*58:01 with allopurinol-induced sCADR in a Portuguese population. Methods We studied 25 patients (11 male/14 female, mean age 674 years) with sCARD from allopurinol: 19 DRESS (drug reaction eosinophilia and systemic symptoms) and six Stevens–Johnson syndrome/toxic epidermal necrolysis (SJS/ TEN). HLA was genotyped by reverse sequence-specific oligonucleotide–polymerase chain reaction and results compared statistically with a control group of 23 allopurinol-tolerant individuals and the control population. Results HLA-B*58:01 was present in 16 patients with sCADR (64%) [12 DRESS (63%), four SJS/TEN (67%)], one allopurinol-tolerant individual (4%) and 63 normal controls (196%), with a statistically significant difference between sCADR and the two control groups. When compared with the normal population, HLA-B*58:01 was associated with a higher risk of sCADR, both DRESS [odds ratio (OR) 8536, 95% confidence interval (CI) 3252–22404] and SJS/TEN (OR 9959, 95% CI 1791–55372). There was no statistically different risk between these two types of CADR. Conclusions Portuguese patients with sCADR from allopurinol, both DRESS and SJS/ TEN, have a high frequency of HLA-B*58:01, with an OR similar to European patients with SJS/TEN. This study also extends this association to DRESS in Europeans. The recommendation to genotype systematically before therapy is controversial, particularly when HLA-B*58:01 prevalence in the normal population is low, as in Europe. However it could be an option for patients with other risks factors.

Pyoderma gangrenosum (PG) is a rare disease, but commonly related to important morbidity. PG was first assumed to be infectious, but is now considered an inflammatory neutrophilic disease, often associated with autoimmunity, and with chronic inflammatory and neoplastic diseases. Currently, many aspects of the underlying pathophysiology are not well understood, and etiology still remains unknown. PG presents as painful, single or multiple lesions, with several clinical variants, in different locations, with a non specific histology, which makes the diagnosis challenging and often delayed. In the classic ulcerative variant, characterized by ulcers with inflammatory undermined borders, a broad differential diagnosis of malignancy, infection, and vasculitis needs to be considered, making PG a diagnosis of exclusion. Moreover, there are no definitively accepted diagnostic criteria. Treatment is also challenging since, due to its rarity, clinical trials are difficult to perform, and consequently, there is no "gold standard" therapy. Patients frequently require aggressive immunosuppression, often in multidrug regimens that are not standardized. We reviewed the clinical challenges of PG in order to find helpful clues to improve diagnostic accuracy and the treatment options, namely topical care, systemic drugs, and the new emerging therapies that may reduce morbidity.

Primary cutaneous lymphomas (PCLs) are exceedingly rare in children and adolescents, with mycosis fungoides (MF) being the most frequent PCL diagnosed in childhood. There are numerous unusual clinical variants of MF, including the hypopigmented type form (HMF). HMF is exceptional overall, but comparatively common among children. We present an 8-year-old boy with a 3-year history of progressive, generalised, scaly, hypopigmented round patches and few erythematous papules. He was first diagnosed with pityriasis alba (PA), and moisturisers were prescribed with no improvement. Skin biopsy showed typical features of MF, and the patient was successfully treated with narrowband ultraviolet B. HMF may simulate atopic dermatitis, PA, pityriasis lichenoides, tinea versicolour, vitiligo, postinflammatory hypopigmentation or leprosy. Therefore, persistent and unusual hypopigmented lesions should be biopsied to rule out this rare variant of MF.

Background Immune-mediated cutaneous adverse drug reactions (CADR) present under different clinical patterns, some different from the main phenotypes of CADR. Our objective is to characterize manifestations and culprit drugs in CADR that required hospitalization, particularly exanthema associated with few systemic symptoms without fulfilling the European DRESS criteria (MP/DR).