EditorCapecitabine is a non-cytotoxic oral fluoropyrimidine carbamate agent that acts as a prodrug of 5-FU. 1 After oral administration, capecitabine is rapidly absorbed and further activated, through several enzymatic steps, to its main metabolites. Both the mode of administration (oral route) and the nature of the agent (prodrug) make it a more suitable and safer option, when compared to 5-FU. Capecitabine is prescribed in 21-day cycles, comprising 14 days of continuous administration, followed by a 7-day rest period 2 either as a monotherapy regimen for advanced colorectal cancer, or in conjunction with docetaxel for advanced chemotherapy-refractory breast carcinoma.Its main cutaneous side-effect is undoubtedly the handfoot syndrome (HFS), also known as palmar-plantar erythrodysesthesia, although several cases of skin discoloration, alopecia, nail changes, photosensitivity and radiation recall reactions have also been reported. 1 An 82-year-old Caucasian man was started on capecitabine after undergoing a right haemicolectomy for stage III adenocarcinoma of the ascending colon. Skin complaints started on the second 14-day course of chemotherapy, with extensive hyperpigmentation of the normal, photo-exposed non-vitiliginous skin, along with painful palmar and plantar erythema, oedema and desquamation. There had been no previous or concurrent sun exposure, the patient having strictly complied with medical recommendations concerning photoprotection and the avoidance of any drug known to be photosensitizer or otherwise to interact with capecitabine.Upon examination the palms and soles were erythematous, oedematous and warm and tender upon palpation; hyperpigmentation of the malar and ear areas of the patient's face was also evident in overt contrast to the adjacent vitiliginous facial skin areas ( fig. 1).The use of tacrolimus 0.1% ointment, b.i.d., under occlusion, along with regular emollients, was started on the hands and feet, with prompt and significant relief 1 week upon initiation. As far as the hyperpigmentation, however, the asymptomatic hyperpigmentation only resolved about 6 months after the completion of the nine courses of chemotherapy.The capecitabine-induced HFS is not a rare event, as it has been reported to occur in up to 68% of patients. That is not at all surprising bearing in mind the long known association of 5-FU with this particular skin side-effect, mostly seen when administered by continuous infusion. 3The pathophysiology of HFS is largely unknown. It is nevertheless known to be aggravated by strenuous exercise and manual labour, as well as to be clearly dose related, as such seriously affecting the outcome of the chemotherapeutic regimen.Thus, HFS treatment consists of discontinuation of the drug, emollient local therapy and, probably (still deserving clarification), pyridoxine (vitamin B 6 ). We are not aware of the previous use of tacrolimus ointment in this setting; however, its barrier-restoring properties along with its immunomodulatory, anti-inflammatory profile led us to successfu...
Introdução: Feocromocitomas são tumores originários de células cromafins do sistema simpato-adrenal. As suas manifestações clínicas são múltiplas e diversificadas, função do perfil secretório variável de múltiplos compostos, incluindo catecolaminas, neuropéptidos e outros compostos vasoactivos. A Neurofibromatose 1 (D de von Recklinghausen), a mais prevalente das variantes das neurofibromatoses, é genodermatose transmitida segundo padrão mendeliano autossómico dominante. O diagnóstico de NF1 assenta em critérios diagnósticos, entre os quais as alterações cutâneas, oculares e esqueléticas são as mais relevantes, embora múltiplas neoplasias envolvendo diversos orgãos e sistemas não possam ser esquecidas ou sub-valorizadas já que é bem conhecido que o produto genético do gene alterado da NF1 – a neurofibromina – é uma proteina de supressão tumoral. Feocromocitomas ocorrem em menos de 1% dos doentes com NF1; por outro lado, apenas 5% dos casos reportados de feocromocitoma estão associados com a NF I. No entanto, entre doentes hipertensos com NF1, a prevalência de feocromocitoma pode atingir os 50%.Caso clínico: É relatado caso de eurocaucasiana de 27 A de idade, com diagnóstico de NF1 com história de 4 meses de cólicas abdominais, hiperhidrose generalizada, dispneia e hipertensão arterial paroxística. As catecolaminas e metanefrinas urinárias estavam aumentadas e a exploração topográfica levada a cabo (RMN e I-MIBG) permitiram detectar uma massa na glândula suprarrenal direita, a qual, após adrenalectomia confirmou o diagnóstico de feocromocitoma. Conclusão: O caso apresentado enfatiza a necessidade de uma abordagem multissistémica, multidisciplinar a doentes com NF1, tendo em conta as manifestações sistémicas associadas, na base de um prognóstico por vezes fechado da doença.
Erosive pustular dermatosis of the scalp (EPDS) is a rare, chronic inflammatory dermatosis that mostly affects elderly patients, who develop erosions, pustulation, crusting and scarring on the scalp. Its aetiology remains elusive, although the role of local trauma is being emphasized. Treatment is difficult, with several topical and systemic agents being reported to induce improvement. A 63-year-old Caucasian male had been suffering from persistent painful pustules, erosions and crusts on his scalp for 2 years. The onset of the lesions followed a CO2 laser vaporization procedure to treat multiple actinic keratoses. Different topical and systemic treatments had unsuccessfully been tried. A 4-month course of bid 0.1% tacrolimus ointment, along with strict external photoprotection, resulted in dramatic improvement, sustained after careful tapering of tacrolimus. This case is interesting in that the scalp eruption followed CO2 laser treatment. Other cases have been associated with cryosurgery, radiotherapy, surgery, and 5-FU. In fact, to our knowledge, ours is the fourth reported case of EPDS following CO2 laser treatment. Our case also strengthens previous observations as to the efficacy and safety of topical calcineurin inhibitors in this dermatosis. This is noteworthy bearing in mind the atrophic character of the skin in EPDS, which limits the usefulness of chronically administered topical steroids.
A Síndrome Unha-Rótula ou Nail-Patella Syndrome (OMIN 161200) (Osteo-Onicodisplasia Hereditária), descrita pela primeira vez por Chatelain em 1820, é uma síndrome polimalformativa rara que afecta tecidos de origem ecto e mesodérmica. É condição hereditária, transmitida como traço autossómico dominante, tendo o gene responsável sido identificado (9q34) e caracterizado como codificando uma proteína que desempenha papel crítico no desenvolvimento padronizado dorso-ventral dos tecidos dos membros. Clinicamente, caracteriza-se por aplasia ou hipoplasia das unhas e rótulas, pela presença de exostoses nos ilíacos (“cornos ilíacos”), anomalias pigmentares na íris e nefropatia. As alterações ungueais, habitualmente presentes à nascença, são altamente evocadoras e permitem um diagnóstico precoce, como tal prevenindo o desenvolvimento ulterior de importantes limitações osteo-esqueléticas ou de insuficiência renal. É apresentado caso clínico de jovem de 4 anos, do sexo masculino, eurocaucasiano, com instabilidade na marcha e rótulas ausentes, uma perturbação do desenvolvimento preenchendo critérios para a Síndrome de Asperger e anomalias ungueais congénitas. Neste caso são dignos de registo o contraste nítido entre a extensão das alterações dermatológicas, a discreta expressão das anomalias ortopédicas e a inexistência de compromisso renal. Efectivamente, não apenas não tinha alterações renais ou auditivas como - para além da ausência das rótulas, de uma clinodactilia do 5º dedo das mãos e de uma ligeira discromia iridiana - nenhumas outras alterações foram detectadas numa criança com um óbvio atraso do desenvolvimento estato-ponderal.
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