Vera Teixeira

HLA-B*58:01 is a risk factor for allopurinol-induced DRESS and Stevens–Johnson syndrome/toxic epidermal necrolysis in a Portuguese population

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.

Bullous pemphigoid and comorbidities: a case-control study in Portuguese patients

BACKGROUND aAlthough rare, bullous pemphigoid (BP) is the most common autoimmune blistering disease. Recent studies have shown that patients with bullous pemphigoid are more likely to have neurological and psychiatric diseases, particularly prior to the diagnosis of bullous pemphigoid. OBJECTIVE The aims were: (i) to evaluate the demographic and clinical features of bullous pemphigoid from a database of patients at a Portuguese university hospital and (ii) to compare the prevalence of comorbid conditions before the diagnosis of bullous pemphigoid with a control group. METHODS Seventy-seven patients with bullous pemphigoid were enrolled in the study. They were compared with 176 age- and gender-matched controls, which also had the same inpatient to outpatient ratio, but no history of bullous or cutaneous malignant disease. Univariate and multivariate analyses were used to calculate odds ratios for specific comorbid diseases. RESULTS At least one neurologic diagnosis was present in 55.8% of BP patients compared with 20.5% controls (p<0.001). Comparing cases to controls, stroke was seen in 35.1 vs. 6.8%, OR 8.10 (3.80-17.25); dementia in 37.7 vs. 11.9%, OR 5.25 (2.71-10.16); and Parkinsons disease in 5.2 vs. 1.1%, OR 4.91 (0.88-27.44). Using multivariate analysis, all diseases except Parkinsons retained their association with BP. Patients under systemic treatment were eight times more likely to have complications than those treated with topical steroids (p< 0.017). CONCLUSIONS The results of this study substantiate the association between BP and neurological diseases. In addition, they highlight the potential complications associated with the treatment of BP.

Prediction of Sentinel Node Status and Clinical Outcome in a Melanoma Centre

Background. Sentinel lymph node biopsy (SLNB) is a standard procedure for patients with localized cutaneous melanoma. The National Comprehensive Cancer Network (NCCN) Melanoma Panel has reinforced the status of the sentinel lymph node (SLN) as an important prognostic factor for melanoma survival. We sought to identify predictive factors associated with a positive SLNB and overall survival in our population. Methods. We performed a retrospective chart review of 221 patients who have done a successful SLNB for melanoma between 2004 and 2010 at our department. Univariate and multivariate analyses were done. Results. The SLNB was positive in 48 patients (21.7%). Univariate analysis showed that male gender, increasing Breslow thickness, tumor type, and absence of tumor-infiltrating lymphocytes were significantly associated with a positive SLNB. Multivariate analysis confirmed that Breslow thickness and the absence of tumor-infiltrating lymphocytes are independently predictive of SLN metastasis. The 5-year survival rates were 53.1% for SLN positive patients and 88.2% for SLN negative patients. Breslow thickness and the SLN status independently predict overall survival. Conclusions. The risk factors for a positive SLNB are consistent with those found in the previous literature. In addition, the SLN status is a major determinant of survival, which highlights its importance in melanoma management.

Merkelzellkarzinom: eine Überprüfung und Aktualisierung über die Pathogenese, Diagnose und Therapieansätze

Merkel cell carcinoma (MCC) or primary cutaneous neuroendocrine carcinoma is a relatively uncommon form of skin cancer. It is an aggressive neoplasm with high tendency for local recurrence and lymph node and distant metastasis, whose incidence has been rising in the last 2 decades.A novel polyomavirus (MCPyV) has been found in a significant proportion of MCCs, and this finding significantly contributed to the understanding of its pathogenesis.It is fairly consensual at the current state of know-ledge that appropriate staging, including sentinel lymph node biopsy, is very important in order to plan adequate treatment. Treatment includes aggressive surgery of the primary tumour and lymph node basin, commonly combined with adjuvant radiotherapy. Chemotherapy is usually reserved for distant metastasis.In the present article, the authors review the current knowledge about MCC with special emphasis on the new pathogenetic findings and current recommendations regarding management.SummaryMerkel cell carcinoma (MCC) or primary cutaneous neuroendocrine carcinoma is a relatively uncommon form of skin cancer. It is an aggressive neoplasm with high tendency for local recurrence and lymph node and distant metastasis, whose incidence has been rising in the last 2 decades.A novel polyomavirus (MCPyV) has been found in a significant proportion of MCCs, and this finding significantly contributed to the understanding of its pathogenesis.It is fairly consensual at the current state of know-ledge that appropriate staging, including sentinel lymph node biopsy, is very important in order to plan adequate treatment. Treatment includes aggressive surgery of the primary tumour and lymph node basin, commonly combined with adjuvant radiotherapy. Chemotherapy is usually reserved for distant metastasis.In the present article, the authors review the current knowledge about MCC with special emphasis on the new pathogenetic findings and current recommendations regarding management.ZusammenfassungDas Merkelzellkarzinom (MCC) oder primäres kutanes neuroendokrines Karzinom ist ein relativ seltener Hautkrebs. Es handelt sich um eine aggressive Neubildung mit einer Neigung zu lokalen Rezidiven, Lymphknoten- und Fernmetastasen. Seine Inzidenz ist in den letzten zwei Jahrzehnten angestiegen.Die Entdeckung eines neuen Polyomavirus (MCPyV) bei zahlreichen MCC hat unser Pathogeneseverständnis deutlich beeinflusst.Es herrscht Konsens darüber, dass ein entsprechendes Staging einschließlich der Sentinel-Lymphknotenbiopsie für eine adäquate Therapieplanung unbedingte Vorraussetzung ist. In der Behandlung kommen die aggressive Tumorchirurgie des primären MCC und der regionalen Lymphknotenstation (bei positivem Sentinel) in Kombination mit einer adjuvanten Strahlentherapie zum Einsatz. Die Chemotherapie ist für gewöhnlich dem Stadium der Fernmetastasierung vorbehalten und rein palliativer Natur.In der vorliegenden Arbeit geben wir eine Übersicht zur Kenntnis des MCC mit Betonung auf die neueren Befunde zur Pathogenese sowie zu aktuellen therapeutischen Empfehlungen.

Fixed drug eruption by etoricoxib confirmed by patch test

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.

Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism

Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype.

Plate-like osteoma cutis: nothing but skin and bone?

Osteoma cutis encompasses a group of cutaneous ossifying disorders, more commonly secondary to trauma, inflammation or neoplasms. Fourteen per cent, however, are primary, and these may be syndromatic (associated to Albrights hereditary osteodystrophy) or occur in isolation. We report a case of a 10-year-old girl who presented with a stone-hard plate on the scalp, with no relevant personal or family history, nor changes in calcium-phosphate metabolism, parathyroid hormone or thyroid function. Skin biopsy confirmed osteoma cutis. Plate-like osteoma cutis is rare, and believed to be a non-progressive form of heterotopic ossification, included in the spectrum of progressive osseus heteroplasia and Albright hereditary osteodystrophy, due to GNAS gene mutations. This recently clarified association should remind us of the possible unfavourable evolution of a seemingly innocent clinical picture, emphasising the need for appropriate evaluation, management and follow-up.

A rarely diagnosed disorder of the gluteal cleft

A 37-year-old white man presented with a 10-year history of itching, keratotic skin lesions on his gluteal cleft. At the time of presentation, he was using topical corticosteroids for presumed psoriasis, but without benefit. There was no family history of similar lesions or of other skin disorder, including psoriasis. The patient was otherwise in good health, and had not been taking any systemic medication. On physical examination, well-demarcated, erythematous, verrucous papules and confluent plaques, measuring 10–30 mm in size, were seen on both sides of the inner gluteal cleft, sparing the anal margin. Some of the lesions had a raised hyperkeratotic border, whereas others were scaly and/or erosive (Fig. 1a,b). The rest of the physical examination was unremarkable.

Generalized Lichen Nitidus in a boy with Niemann-Pick disease type B

Generalized lichen nitidus is an uncommon chronic inflammatory dermatosis with very characteristic histological findings. Its pathogenesis is still unclear; very rarely it has been associated with genetic disorders. Herein we report the case of a 12-year-old boy with Niemann-Pick disease who developed generalized lichen nitidus.

A large pigmented lesion mimicking malignant melanoma

An 88-year-old woman was admitted with a hugebilateral pulmonary embolism and acute renal failure.On physical examination, a well-defined irregularlypigmented plaque 20 · 40 mm with black, brown andpink hues and an irregular border was noticed over theumbilicus (Fig. 1). A clinical diagnosis of malignantmelanoma (MM) was suggested, and surgical excisionplanned. However, the patient’s prognosis was poor; shewas very dyspnoeic, with oxygen saturation levels of< 75%, despite the treatment for pulmonary embolism,thus we chose to perform a biopsy to confirm thediagnosis, with the intention to proceed to treatmentonce the patient recovered from the embolism.