Capillary malformation-arteriovenous malformation syndrome associated with basilar artery aneurysm.

A 23-day-old boy with prenatal diagnosis of basilar artery aneurysm presented with multiple congenital red patches consistent with capillary malformations. Genetic testing confirmed the presence of a heterozygous pathogenic variant of the RASA1 gene, confirming the diagnosis of capillary malformation-arteriovenous malformation (CM-AVM) syndrome. This case illustrates an atypical presentation of the RASA1 associated CM-AVM syndrome, with the intracranial vascular malformation diagnosis preceding the identification of the skin lesions. Arterial aneurysms have been associated with CM-AVM syndrome in rare instances but to our knowledge this is the first reported case of an aneurysm of the basilar artery.

Subcutaneous granuloma annulare induced by acetazolamide.

A 9-year-old boy presented with recurring subcutaneous nodules on both legs and knees temporally related each time to acetazolamide treatment for idiopathic intracranial hypertension. A biopsy of one of the lesions revealed palisaded granulomas in the hypodermis around necrobiotic collagen and interstitial accumulation of mucin, compatible with subcutaneous granuloma annulare (SGA). To the best of our knowledge, this is the first case that establishes an association between SGA and acetazolamide.

A proposal for the use of new silver-seaweed-cotton fibers in the treatment of atopic dermatitis.

BACKGROUND: Atopic dermatitis (AD) is a disease with multifactorial etiology. Staphylococcus aureus is one of the predominant environmental factors acting on the course and intensity of the disease. OBJECTIVES: The aims of the study were to evaluate the efficacy and safety of clothing made of cellulose fibers with seaweed enriched with silver ions in the treatment of children with AD. METHODS: A prospective, randomized and double-blinded controlled selection was done to recruit 19 children with diagnosis of AD. This sample was divided in two groups with similar demographic and clinical characteristics (the "control" group of seven children who wore placebo clothing and the "trial textile" group of 12 children who wore clothing with the new textile). The severity of AD and clinical response were assessed by the SCORAD index, the intensity of pruritus and the changes in sleep characteristics, at the start of the study and after 7 and 90 d. RESULTS: The SCORAD index improvement in the group with the fiber under study was statistically significant after the first 7 d of treatment (p < 0.001) and was reduced by about 45% after 90 d. There was also a statistically relevant reduction of the intensity of pruritus and an improvement in the sleep quality after the initial 7 d and at day 90. CONCLUSION: The results showed that the textile clothing with seaweed enriched with silver ions brings a quicker improvement of the patients in the first days in opposition to the use of standard all-cotton clothes. The results also reinforce the importance of non-pharmacological measures, like clothing, in the management of patients with a diagnosis of AD.

Schimmelpenning syndrome.

Schimmelpenning syndrome (SS) includes an organoid nevus that follows the lines of Blaschko and defects of brain, eyes, bones, or other systems. We report a case of a 3-month old female infant, who presented with several thin plaques, with irregular borders, yellowish color, which had a verrucous appearance, following the lines of Blaschko, mainly occupying the left side of posterior trunk, the left face, the right side of the anterior trunk, and the right upper limb. These plaques had been present since birth. In addition, she had a flat salmon to yellow nevus on the left parietal and temporal region of the scalp, with a bald patch. She was diagnosed after birth with an interauricular communication. The skin biopsy from the lesion of the right arm revealed an epidermal nevus that occupied the epidermis completely. Routine and other complementary laboratory blood tests, including platelet count, thyroid function tests, 25-hydroxy-vitamin D, parathyroid hormone, and plasma and urinary levels of calcium and phosphorus were negative. Cerebral magnetic resonance and renal ultrasound were normal. The diagnosis of SS was established. She is being followed in the clinics of Dermatology, Cardiology, Pediatrics, and Pediatric Neurology. We report this case to point out the importance of investigating patients with epidermal nevus to identify associated conditions.

Chronic Urticaria in the Real-Life Clinical Practice Setting in Portugal: Baseline Results from the Non-Interventional Multicentre AWARE Study.

INTRODUCTION: There is a paucity of information regarding chronic urticaria patients' care in a real-world setting. The objective of this study was to report and evaluate the baseline characteristics of Portuguese chronic urticaria patients refractory to H1-antihistamines included in the AWARE study. MATERIAL AND METHODS: This is a non-interventional cohort study. Adult patients with a diagnosis of chronic urticaria with symptoms for at least two months, refractory to H1-antihistamines, consulting one of the 10 participating urticaria centers throughout Portugal have been included in the study. Baseline sociodemographic data, medical history, clinical parameters, medication, weekly urticaria activity score, and dermatology quality of life index have been collected. RESULTS: Seventy six patients were included, of which 76.3% were women. The majority of patients had a diagnosis of chronic spontaneous urticaria (88.2%) and 39.5% had angioedema. Around 91.0% of patients were medicated with non-sedative H1-antihistamines and 35.4% with a third line therapy. Median dermatology quality of life index was 5.0 and median weekly urticaria activity score was 13.0. DISCUSSION: The baseline results suggest that patients with chronic urticaria refractory to H1-antihistamines are being under-treated in the real-world setting. CONCLUSION: The AWARE study demonstrates the real impact of chronic urticaria on Portuguese patients refractory to H1-antihistamines treatment, and 30% report a very large or extremely large deleterious effect on their quality of life. The follow-up of these patients will allow evaluating strategies aimed at optimizing disease control.

Introdução: A informação sobre os doentes com urticária crónica em ambiente de vida real é escassa e este estudo teve por objectivo reportar e avaliar as características basais dos doentes portugueses com urticária crónica refractários aos anti-histamínicos H1 incluídos no estudo AWARE. Material e Métodos: Estudo de coorte não intervencional. Foram incluídos doentes adultos com diagnóstico de urticária crónica sintomáticos durante pelo menos dois meses, refratários aos anti-histamínicos H1, seguidos em 10 centros de urticária em Portugal. Foram recolhidos dados basais sociodemográficos, história clínica, parâmetros clínicos, medicação, índice semanal de atividade de urticária e índice de qualidade de vida dermatológico. Resultados: Foram incluídos 76 doentes, dos quais 76,3% mulheres. A maioria dos doentes estava diagnosticado com urticária crónica espontânea (88,2%) e 39,5% apresentavam angioedema. Cerca de 91,0% dos doentes estavam medicados com anti-histamínicos H1 não sedativos e 35,4% com terapêuticas de terceira linha. A mediana do índice de qualidade de vida dermatológico foi 5,0 e a mediana do índice semanal de atividade de urticária foi 13,0. Discussão: Os resultados basais sugerem que os doentes com urticária crónica refratários ao tratamento com anti-histamínicos H1 estão sub-tratados em ambiente de vida real. Conclusão: O estudo AWARE vem demonstrar o real impacto da urticária crónica nos doentes portugueses refratários ao tratamento com anti-histamínicos H1 onde mais de 30% reporta um impacto elevado ou extremamente elevado da doença na sua qualidade de vida. O seguimento destes doentes permitirá avaliar estratégias para otimização do controlo da doença.

Pemphigoid gestationis successfully treated with intravenous immunoglobulin.

Pemphigoid gestationis (PG), also known as herpes gestationis, is a rare autoimmune blistering disease specific to pregnancy, which usually presents in the second or third trimesters and, in 15%-25% of cases, during the immediate postpartum period.1Although the ethiopathogeny of PG is not fully clarified, most patients develop antibodies against a 180 kDa transmembrane hemidesmosomal protein (BP180; BPAG2; collagen XVII).2 PG has a strong association with human leucocyte antigens DR3 and DR4.3We report a case of a 29-year-old female patient with PG successfully treated with intravenous immunoglobulin.

Port-wine stain as a clue for two rare coexisting entities.

Phakomatosis pigmentovascularis (PPV) is an uncommon dermatosis characterised by the presence of both pigmentary and vascular abnormalities.1 Its pathogenesis is not elucidated, and the prognosis is mainly determined by the presence of extracutaneous manifestations, such as Klippel-Trenaunay syndrome (KTS), that is defined by the triad of a port-wine stain (PWS), anomalous veins and progressive overgrowth of the affected extremity. Herein, we report a case of an adult patient, who presented with a large PWS, nevus of Ota, ocular melanosis, and limb hypertrophy and varicosities. These findings represented a rare association of PPV type IIb and KTS.

Mycoplasma pneumoniae-induced rash and mucositis: a recently described entity.

Mycoplasmapneumoniae is a common cause of respiratory infections. Although most cases are mild, some patients have extrapulmonary complications including mucocutaneous eruptions including Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN) and erythemamultiforme (EM). Recently, a new entity, called M. pneumoniae-induced rash and mucositis (MIRM) was described. The authors present a clinical case difficult to classify attending to the classical classification of epidermolytic syndromes that meets the criteria proposed for the diagnosis of MIRM. The mucocutaneous disease associated with M. pneumoniae presents predominant mucositis, with scarce or absent cutaneous involvement. Because of the distinct morphology, pathophysiology and benign clinical course, MIRM should be considered as a new entity, distinct from SJS/TEN and EM.

Wells syndrome associated with lung cancer.

Wells syndrome (WS) or eosinophilic cellulitis is a rare, idiopathic, inflammatory dermatosis. The typical clinical presentation is urticarial plaque without preferential location that usually heals without scarring. We present a 62-year-old man with history of lung cancer that had undergone a right superior lobectomy 12 months previously. The patient had a relapsing dermatosis beginning about 6 months before the diagnosis of the lung cancer, characterised by pruritic, erythematous plaques located on the trunk and arms. These lesions spontaneously resolved within a few weeks without scarring. A skin biopsy revealed findings compatible with WS. Several diseases have been associated with WS. These include haematological diseases, fungal, parasitic and viral infections, drug reactions and rarely non-haematological malignancies. We present a case of this rare syndrome in a patient with history of lung cancer that we believe acted as a triggering event. To our knowledge, this is the second case reporting this association.

Tungiasis: a poorly-known diagnosis in Europe. Two paradigmatic cases from Portugal.

Tungiasis is a cutaneous parasitosis caused by infestation of the skin by gravid fleas of the genus Tunga, mainly Tunga penetrans. This flea is very common in tropical and subtropical regions of the globe, but not in Europe. The infestation is acquired by walking barefoot or lying in places where the flea is present, usually beaches or sandy soils. We report two unrelated cases of imported tungiasis in Portugal that presented to our clinic in the same week. We draw attention to one of the most common dermatological diseases in travelers returning from tropical countries, the diagnosis of which is primarily clinical but nonetheless is largely unfamiliar to clinicians attending those patients.

Cannabis arteritis: ever more important to consider.

Cannabis arteritis (CA) is a major and underdiagnosed cause of peripheral arterial disease in young patients. A 34-year-old man, daily smoker of 20 cigarettes and two cannabis cigarettes for 14 years, presented with a necrotic plaque of left hallux for 3 weeks. The Doppler ultrasound and angiography were compatible with severe Buerger's disease. Submitted to a revascularisation procedure and hypocoagulation with rivaroxaban. He had ceased smoking but maintained consumption of cannabis. Owing to the persistence of distal necrosis, amputation of the hallux was performed with good evolution. CA is a subtype of Buerger's disease. It is poorly known but increasingly prevalent and manifests in cannabis users regardless of tobacco use. The drug is considered at least a cofactor of the arteriopathy. The most effective treatment is cessation of consumption. Being cannabis one of the most consumed drugs, its mandatory to ask about its use in all young patients with arteriopathy.

A 10-Year Retrospective Analysis of Methyl Aminolevulinate Photodynamic Therapy Consultation at the Hospital de Braga.

INTRODUCTION: Photodynamic therapy (PDT) is a well-established treatment for actinic keratosis (AK), basal cell carcinoma (BCC), and Bowen's disease (BD). The object of this study was to describe the results of a retrospective analysis of patients treated with methyl aminolevulinate PDT (MAL-PDT) with red light, over the past decade at the Hospital de Braga (Braga, Portugal). METHODS: This study is based on the retrospective analysis of the clinical records of patients treated with MAL-PDT from January 2003 to December 2013. RESULTS: More than 550 patients with mean age of 72 years were treated with MAL-PDT. About two-thirds of these patients were female. In terms of diagnostics, 67% of the patient population were affected with AK, 27% presented with BCC, and 4% had BD. With an average follow-up of 5.5 years, 99.5% of the lesions had cleared. The recurrence of lesions occurred during the first year of follow-up, mostly large BCC localized on the trunk. CONCLUSION: This study showed the excellence of MAL-PDT for treating AK, BCC, and BD, with a low recurrence rate.

Sweet's syndrome associated with cellulitis - a challenging diagnosis.

Sweet's syndrome is a neutrophilic dermatosis with worldwide distribution that has been associated with inflammatory autoimmune diseases, infections, malignancies, drugs, and pregnancy. The disease is idiopathic in up to 50% of patients. A 64-year-old woman, diagnosed with right limb cellulitis (4 days of evolution), was seen at our department, due to persistent cellulitis and progressive appearance of painful nodules and plaques in both shins and the right forearm (2 days of evolution). Taken together, clinical, laboratory and pathological data suggested the diagnosis of Sweet's syndrome, probably secondary to cellulitis of the right inferior limb. We suggest that cellulitis may be associated with Sweet's syndrome, a rare association in the literature.