Congenital infantile digital fibromatosis: a case report and review of the literature

Infantile digital fibromatosis (IDF) is a rare benign fibroproliferative tumor of early childhood. IDF preferentially affects the fingers and the toes. Malignant transformation or metastases have never been reported. Surgical treatment has been advocated previously but local recurrences were observed frequently. Recent literature supports clinical surveillance without any medical or surgical intervention as spontaneous regression usually occurs after two to three years. A six-month-old Caucasian girl with IDF on the left fourth digit is presented here. The tumor progressively increased in size after birth. Topical imiquimod cream and diflucortolone valerate cream, both displaying antifibrotic properties, had no effect on tumor growth. Currently the lesion size remains stable without any treatment. Early recognition of IDF is important in order to avoid unnecessary surgical intervention that may prove to be potentially aggravating, unless serious functional or cosmetic concerns intervene. Parents should be reassured concerning the benign nature of IDF and be informed that spontaneous involution of IDF might be expected

Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR

BACKGROUND: Neurofibromatosis type 1 (NF1) is the most common hereditary neurocutaneous disorder and it is associated with an elevated risk for malignant tumors of tissues derived from neural crest cells. The NF1 gene is considered a tumor suppressor gene and inactivation of both copies can be found in NF1-associated benign and malignant tumors. Melanocytes also derive from neural crest cells but melanoma incidence is not markedly elevated in NF1. In this study we could analyze a typical superficial spreading melanoma of a 15-year-old boy with NF1 for loss of heterozygosity (LOH) within the NF1 gene. Neurofibromatosis in this patient was transmitted by the boy's farther who carried the mutation NF1 c. 5546 G/A. RESULTS: Melanoma cells were isolated from formalin-fixed tissue by liquid coverslip laser microdissection. In order to obtain statistically significant LOH data, digital PCR was performed at the intragenic microsatellite IVS27AC28 with DNA of approx. 3500 melanoma cells. Digital PCR detected 23 paternal alleles and one maternal allele. Statistical analysis by SPRT confirmed significance of the maternal allele loss. CONCLUSION: To our knowledge, this is the first molecular evidence of inactivation of both copies of the NF1 gene in a typical superficial spreading melanoma of a patient with NF1. The classical double-hit inactivation of the NF1 gene suggests that the NF1 genetic background promoted melanoma genesis in this patient

Vitamin D supplementation does not improve the severity or the resolution of ultraviolet B-induced acute erythema

Peer reviewe

Koopmotieven de Grachten, Uitwellingerga:onderzoeksrapport

SDDM-research heeft onderzoek gedaan naar de koopmotieven van de bewoners uit project ‘De Grachten’ te Uitwellingerga. Wat waren de beweegredenen voor de bewoners om specifiek dit project te kiezen en wat maakt dit project nu zo speciaal? Door middel van gedegen onderzoek is het gelukt de koopmotieven van de bewoners duidelijk in kaart te brengen. Studentenonderzoek in het kader van het thema Werklandschappe

Eosinophilic cystitis

We describe four cases of eosinophilic cystitis in whom no specific cause could be found, and review the literature. Complaints at presentation included urgency, frequency, abdominal pain, and haematuria. In three patients the symptoms and ultrasound pictures suggested a bladder tumour. One patient was treated with anticholinergics and corticosteroids without relief of symptoms; a localised eosinophilic tumour was excised in one patient who remained symptom free; and two patients were managed conservatively with spontaneous resolution of bladder pathology and symptoms. One case was identified by random bladder biopsy in 150 consecutive patients with unexplained irritable micturition complaints. Eosinophilic cystitis is rare in children. After biopsy, we consider a wait and see policy is justified as symptoms tend to disappear spontaneously. Routine bladder biopsies in children with unexplained bladder symptoms is not justifiable

Challenges in assessing the regional feasibility of local water storage

The regional effects of local water storage are largely unknown. This study identifies, categorizes and discusses the challenges in assessing the potential of local water storage. These are illustrated using a structured method applied to a Dutch case. We conclude that the focus must shift from storage ‘potential’ (the quantity of water that can be stored) to storage ‘feasibility’, which depends on exploitability, purpose and interactions between storage alternatives. Spatial and temporal scale also influence feasibility. Finally, farmers’ investment preferences are a factor, though these are shrouded in uncertainty. This overview is a first step towards improving storage assessment tools and processes.</p

The hemopoietic microenvironment : effects of chemotherapy and irradiation

Blood consists of plasma containing cells and cell fragments. Three groups of blood cells can be identified, namely (a) red blood cells or erythrocytes, (b) white blood cells or leucocytes and (c) platelets or thrombocytes. The white blood cells can be separated into neutrophilic-, eosinophilic- and basophilic granulocytes, lymphocytes and monocytes. The life time of these cells is limited. For example, in man life time for normal erythrocytes is about 120 days and for granulocytes a few days. The daily production of these cells required to maintain normal numbers in blood can be calculated from their life span, their concentration in the blood and the total blood volume. Thus, an adult human male produces approximately 2 x 10¹¹ erythrocytes and 1 x 10¹⁰ granulocytes every day. These amounts are necessary for normal maintenance but the production of blood cells can be increased after stress, for example, infection or blood los

Acute generalized exanthematous pustulosis due to an iodinated contrast radiodiagnostic agent.

peer reviewedIodinated contrast agents are frequently involved in delayed polymorphic adverse skin reactions. Acute generalized exanthematous pustulosis following administration of iodinated contrast agents is a rare but severe form of such reactions. The disease is characterized by the sudden occurrence of an erosive and pustular erythroderma with fever, leukocytosis and sometimes peripheral adenopathies and liver involvement. This condition is considered as an immunologic reaction, primarily involving T lymphocytes. The overall mortality reaches about 1%. Elucidating the differential diagnosis with other acute paroxysmal drug eruptions (toxic epidermal necrolysis, Steven-Johnson syndrome and drug hypersensitivity syndrome) is of paramount importance for establishing the adequate treatment of PEAG