Late onset Ito's nevus

Dermal melanocytoses include a variety of congenital and acquired melanocytic lesions characterised by the presence of multiple spindle-shaped dendritic melanocytes in the dermis. These lesions are commonly found in the skin of Asians, but they can also appear in Caucasians. The Mongolian spot, nevi of Ota and Ito are the most common morphological forms. We report a case of a 24-year-old Caucasian woman presented with a 10-months history of progressive darkening of the right side of her upper back. Cutaneous examination revealed a macular blue-grey hyperpigmentation of the right side of her upper back. Biopsy specimen from the macule showed multiple darkly pigmented, spindle-shaped dendritic melanocytes in the superficial dermis, interstitially arranged between collagen bundles. The diagnosis of nevus of Ito was established. Our patient is maintaining vigilance in dermatology consultation

Easy resolution of severe obstructive kidney injury

Chronic constipation is a common diagnosis with a high prevalence in the elderly. Constipation affects the quality of life of sick individuals, bringing several clinical complications.info:eu-repo/semantics/publishedVersio

Kikuchi´s disease of the xanthomathous type with cutaneous manifestation

Kikuchi's disease is a benign, self-limiting disease, whose pathogenesis remains unknown. Patients most often present with cervical lymphadenopathy, sometimes associated with fever and leukopenia. It has been reported that up to 40% of patients with Kikuchi's disease have also cutaneous eruptions, but no specific skin changes have been described. Kikuchi's disease can be subclassified into three histologic subtypes: a proliferative type, a necrotizing type and a xantomathous type. Most patients with Kikuchi's disease require no specific treatment, because the disease regresses spontaneously, within a few weeks to months. We report a case of a 31-year-old woman with xanthomatous type of Kikuchi's disease, whose first manifestation was the onset of erythematous papules with central suppuration on her face and on her left hand

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

A Case of IFAP Syndrome with Severe Atopic Dermatitis

Introduction. The IFAP syndrome is a rare X-linked genetic disorder characterized by the triad of follicular ichthyosis, atrichia, and photophobia. Case Report. A three-month-old Caucasian, male patient was observed with noncicatricial universal alopecia and persistent eczema from birth. He had dystrophic nails, spiky follicular hyperkeratosis, and photophobia which became apparent at the first year of life. Short stature and psychomotor developmental delay were also noticed. Histopathological examination of skin biopsy on left thigh showed epidermis with irregular acanthosis, lamellar orthokeratotic hyperkeratosis, and hair follicles fulfilled by parakeratotic hyperkeratosis. The chromosomal study showed a karyotype 46, XY. Total IgE was 374 IU/mL. One missense mutation c.1360G>C (p.Ala454Pro) in hemizygosity was detected on the MBTPS2 gene thus confirming the diagnosis of IFAP syndrome. Conclusions. We describe a boy with a typical clinical presentation of IFAP syndrome and severe atopic manifestations. A novel missense mutation c.1360G>C (p.Ala454Pro) in MBTPS2 gene was observed. The phenotypic expression of disease is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol and endoplasmic reticulum homeostasis. It can cause epithelial disturbance with failure in differentiation of epidermal structures and abnormal skin permeability barrier. However, no correlation phenotype/genotype could be established

Intravenous immunoglobulin in dermatology – clinical experience in Hospital de Braga

Introdução: Nos últimos anos tem aumentado a experiência clínica com o uso de Imunoglobulinas Endovenosas (IgEv) em Dermatologia. Apesar da informação limitada na literatura, a utilização off-label das IgEv tem demonstrado eficácia na terapêutica de várias dermatoses refratárias aos tratamentos convencionais. Material e métodos: Efetuou-se um estudo retrospetivo dos doentes com patologia dermatológica tratados com IgEv entre Janeiro de 2004 e Outubro de 2011 no Serviço de Dermatologia do Hospital de Braga. Foram analisadas as características demográficas e clínicas, as terapêuticas efetuadas, a resposta clínica e o perfil de segurança. Resultados: Foram tratados 21 doentes com IgEv em 10 diferentes patologias dermatológicas: quatro doentes com Pênfigo Vulgar [2 com resposta completa (RC), um com resposta parcial (RP) e outro que interrompeu o tratamento por efeito lateral grave]; dois doentes com Penfigóide Bolhoso (um com RC e outro com RP); três doentes com Necrólise Epidérmica Tóxica (NET) com RC; dois doentes com Dermatomiosite (ambos com RP); quatro doentes com Urticária Crónica (um com RC, um com RP, um que não respondeu e outro que suspendeu o tratamento por efeito lateral); dois doentes com Vasculopatia Livedóide com RP; um doente com Síndrome CREST que não melhorou; um doente com Escleromixedema com RP; um doente com Pioderma Gangrenoso com RC e uma doente com Dermite Atópica que interrompeu o tratamento na sequência de gravidez. Com excepção dos 3 doentes com NET, em todos os outros a doença havia sido refratária aos tratamentos sistémicos convencionais. Conclusões: Apesar de a nossa experiência ser limitada, o tratamento com IgEv pode ser benéfico em determinadas patologias que não melhoram com o tratamento clássico. Atendendo ao seu custo elevado e efeito terapêutico variável, o seu uso deve ser criterioso até que mais estudos definam a relação risco-benefício

Exposure of humans to the zoonotic nematode Dirofilaria immitis in Northern Portugal

Dirofilariosis caused by Dirofilaria immitis (heartworm) is a zoonosis, considered an endemic disease of dogs and cats in several countries of Western Europe, including Portugal. This study assesses the levels of D. immitis exposure in humans from Northern Portugal, to which end, 668 inhabitants of several districts belonging to two different climate areas (Csa: Bragança, Vila Real and Csb: Aveiro, Braga, Porto, Viseu) were tested for anti-D. immitis and anti-Wolbachia surface proteins (WSP) antibodies. The overall prevalence of seropositivity to both anti-D. immitis and WSP antibodies was 6.1%, which demonstrated the risk of infection with D. immitis in humans living in Northern Portugal. This study, carried out in a Western European country, contributes to the characterisation of the risk of infection with D. immitis among human population in this region of the continent. From a One Health point of view, the results of the current work also support the close relationship between dogs and people as a risk factor for human infectio