Search results for "Skin biopsy"
showing 10 items of 20 documents
Familial seborrhoeic keratosis associated with multiple 'pure reticulated acanthomas' and infundibulocystic basal cell carcinomas.
2017
Background A variety of genodermatoses with multiple cutaneous tumors with germline genetic alterations such as Gorlin syndrome with PTCH1 gene mutations have been described. Other cutaneous syndromes have been associated with somatic gene mutations, such as FGFR3 in familial seborrhoeic keratosis. Objective We describe the clinical, dermoscopic, and histopathological features of multiple cutaneous lesions, mostly infundibulocystic basal cell carcinomas and pure reticulated acanthomas, present in a family affected by familial seborrhoeic keratosis. In addition, we tested for possible germline alterations in the FGFR3 and PTCH1 genes. Methods Ten members of one family were clinically examine…
Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study
2010
Background: Early occurrence of small-fibre neuropathy (SFN) is a common feature of Fabry disease (FD) – an X-linked storage disorder caused by reduced activity of the α-galactosidase A (α-GAL). Although SFN may result from different disorders, the cause is often unclear. Therefore, we investigated the frequency of FD in patients with SFN of unknown aetiology. Methods: Patients with idiopathic SFN, established by sensory quantitative testing and/or skin biopsy, were examined for mutations in the α-GAL gene. Where mutations in the α-GAL gene were identified, levels of globotriaosylceramide (Gb3) were measured in urine and blood and the α-GAL activity was evaluated. When new mutations were …
Abstract 5504: Second neoplasms after childhood cancer and gene expression differences in primary fibroblasts
2012
Abstract Treatment of the primary neoplasm with radiotherapy or chemotherapy is an established risk factor for second neoplasms (SNs) after childhood cancer. As only a small percentage of the treated children suffer from SN, other shared risk factors must be involved. A predisposition for the occurrence of a SN might be a pre-existing somatic genetic defect associated with DNA repair. We investigated the association between gene expression involved in DNA-repair and the development of SNs after childhood cancer. Designed as a feasibility study this project addressed the possibility of obtaining samples for genetic analyses from former patients through the German Childhood Cancer Registry. W…
Angiokeratoma: decision-making aid for the diagnosis of Fabry disease
2012
Isolated angiokeratomas are common benign cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse angiokeratomas should alert the physician to a possible diagnosis of Fabry disease, a rare X-linked lysosomal storage disorder, characterized by α-galactosidase deficiency. Glycosphingolipids accumulate in cells throughout the body resulting in progressive multi-organ failure. Difficulties are encountered when trying to interpret the significance of angiokeratomas because they may also occur in other lysosomal storage disorders and rarely in an isolated manner in Fabry disease. We present an algorithm for the classification of angiokeratomas which might prove…
Comparative analysis of immunohistochemistry, polymerase chain reaction and focus-floating microscopy for the detection of Treponema pallidum in muco…
2011
Summary Background The incidence of syphilis is increasing in many parts of the world including a re-emergence in Western Europe and North America. Depending on the disease stage, direct detection of Treponema pallidum in mucocutaneous lesions of syphilis may be difficult and histopathological findings are not always straightforward. Thus, the correct histological diagnosis may be challenging. Objectives Comparatively to evaluate the evidence for infection with T. pallidum by immunohistochemistry (IHC), polymerase chain reaction (PCR) and focus-floating microscopy (FFM). Methods A series of 86 paraffin-embedded skin biopsy samples from patients with primary, secondary or tertiary syphili…
Consensus on performing skin biopsies, laboratory workup, evaluation of tissue samples and reporting of the results in patients with suspected cutane…
2014
Background Histopathological diagnosis including selection of lesions, the determination of the best point of time for biopsy and workup is not trivial in cutaneous graft-versus-host disease (GvHD). Objectives To develop interdisciplinary recommendations on performing, the laboratory work up and reporting of the results of skin biopsies in patients with suspected cutaneous GvHD. Methods A working group consisting of dermatopathologists, dermatologists, transplant-physicians and transplant-pathologists prepared recommendations for performing skin biopsies, laboratory workup and evaluation of tissue samples, and reporting of the results in patients with cutaneous GvHD. After achieving a conse…
Digoxin-related leukocytoclastic vasculitis in a very elderly woman: A case report
2016
International audience; Even though digoxin causes many side effects, few cases of skin involvement are recorded in the French Pharmacovigilance Database. We report a case of leukocytoclastic vasculitis (LV) very probably due to digoxin. A 91-year-old woman, hospitalized following a fall, presented cardiac decompensation in a context of rapid atrial fibrillation requiring treatment with digoxin. Eight days later, a rash appeared on her back and trunk. It was neither itchy, nor painful and persisted despite local treatment. There were no other clinical anomalies. After a few days, the rash spread with appearance of bullous lesions, ulcerations and a necrosis on lymphedema of the two legs. Am…
Klinik und Therapie der fr�hen lepromat�sen Lepra an einem Fallbeispiel
1994
Taking into account the increase in worldwide human migration, leprosy is of growing importance in the differential diagnosis of dermatological diseases encountered in Central Europe. We report on the case of a young man from Ghana who developed hypopigmented maculae and plaques on his trunk and proximal limbs. The diagnosis of lepromatous leprosy could be made in consideration of the histological pattern of infiltrating leucocytes and detection of numerous acid-fast mycobacteria on skin biopsy. The results of the physical examination as well as routine laboratory and immunological parameters were consistent with this form of leprosy. Due to glucose-6-phosphate-dehydrogenase deficiency, tre…
Non‐invasive diagnostic techniques in pigmentary skin disorders and skin cancer
2021
Background Diagnosis of pigmentary skin disorders, pre-cancerous and cancerous skin diseases is traditionally relied on visual assessment. The most widely applied invasive diagnostic technique is the skin biopsy. There have been significant technological advances in non-invasive diagnostic methods for skin disorders. Objective The objective of this article is to discuss different non-invasive diagnostic modalities, used in the diagnosis of pigmentary skin disorders and cutaneous cancers. Methods Comprehensive literature search was performed to screen articles related to non-invasive diagnostic techniques in pigmentary skin disorders and cutaneous cancers. Articles published in journals inde…
Granulomas en dermatopatología: principales entidades. Parte II
2021
Part 2 of this series on granulomatous diseases focuses on skin biopsy findings. Whereas the first part treated noninfectious conditions (metabolic disorders and tumors, among other conditions), this part mainly deals with various types of infectious disease along with other conditions seen fairly often by clinical dermatologists.