10 research outputs found
Unusual manifestations of secondary syphilis: case presentations
No abstract available</p
A Recurrent Case of Targetoid Hemosiderotic Hemangioma: A Case Report and a Comprehensive Review of the Literature
Targetoid hemosiderotic hemangioma is an acquired vascular malformation
of unknown origin. We report the case of a 31-year-old man with a recurrent
and spontaneous regressive targetoid hemosiderotic hemangioma. Diagnosis
relied on clinical and histological findings. Physical examination revealed presence
of an approximately 2 cm targetoid lesion located on the left arm, and associated
with pain after pressure. No trigger agent (trauma, insect sting) was reported.
Dermoscopy showed a group of red lacunae centrally, encircled by an intermediate
yellow circular homogenous area and a red violaceous homogenous ring in
the periphery. The histopathological examination and the immunohistochemical
staining of the lesion were characteristic for a hemangioma-like proliferation of
vessels in the upper part of the dermis, similar to a targetoid hemosiderotic angioma.
We also review epidemiological, clinical, and histopathological findings in
6 similar cases presented in the literature. Spontaneous regression and recurrence
have rarely been described in this type of skin lesion
Phenotypic and genetic spectrum of incontinentia pigmenti - a large case series
BACKGROUND AND OBJECTIVES
Incontinentia pigmenti is a rare X-linked dominantly inherited systemic disease affecting primarily the skin but also other neuroectodermal tissues such as teeth, hair, eyes, and the central nervous system.
PATIENTS AND METHODS
This multicenter case series study was conducted at three European departments of Dermatology including 30 patients with incontinentia pigmenti. Twenty patients were evaluated clinically and genetically, another ten only genetically.
RESULTS
The study included 28 females and two males with a median age of three years. Cutaneous manifestations were present in all 20 patients with clinical data. Stage I was observed in 90 % of those patients. Stage IV was observed as early as one year of age. Dental (81 %), hair (78 %) and neurological anomalies (53 %) were more frequent than previously reported. Fourteen skin biopsies showed typical features of the corresponding stage. Genetic testing of 24 patients revealed the common exon 4-10 deletion in 14 cases and seven other pathogenic variants, including three unpublished mutations. In another three cases, no genetic alterations were found.
CONCLUSIONS
In this study, the phenotype ranged from only subtle cutaneous involvement to severe multisystemic disorders. Extracutaneous involvement should be evaluated at the time of diagnosis and in regular intervals, as some manifestations may develop over time
Molecular diagnosis of anti-laminin 332 (epiligrin) mucous membrane pemphigoid
Background: Mucous membrane pemphigoid is a group of chronic subepithelial autoimmune blistering diseases that mainly affect mucous membranes. Laminin 332-specific autoantibodies are present in approximately 1/3 of the patients, being associated with an increased risk of malignancy. Because of the severe complications, an early recognition of the disease allowing a timely therapy is essential. The gold standard methods for detection of laminin 332-specific autoantibodies, including the immunoprecipitation and immunoblotting are non-quantitative, laborious and restricted to a few specialized laboratories worldwide. In addition, the use of radioimmunoassays, although highly sensitive and specific, are laborious, expensive and tightly regulated. Therefore, there is a stringent need for a quantitative immunoassay for the routine detection of laminin 332-specific autoantibodies more broadly available to diagnostic laboratories. The aim of this study was to compare different antigenic substrates, including native, recombinant laminin 332 and laminin 332-rich keratinocyte extracellular matrix, for development of an ELISA to detect autoantibodies in mucous membrane pemphigoid. Results: Using a relatively large number of sera from MMP patients with well-characterized autoantibody reactivity we show the suitability of ELISA systems using laminin 332 preparations as adjunct diagnostic tools in MMP. While glycosylation of laminin 332 does not appear to influence its recognition by MMP autoantibodies, ELISA systems using both purified, native and recombinant laminin 332 demonstrated a high sensitivity and good correlation with the detection of autoantibodies by immunoblotting. ELISA systems using different laminin 332 preparations represent a feasible and more accessible alternative for a broad range of laboratories. Conclusions: Our findings qualify the use of immunoassays with the laminin 332-rich preparations as an ancillary diagnostic tool in mucous membrane pemphigoid
Additional file 1: of Molecular diagnosis of anti-laminin 332 (epiligrin) mucous membrane pemphigoid
Figure S1. Comparative analysis of serum reactivity with the extracellular matrix and native laminin 332 by ELISA in control patients. Box plots represent optical density measurements of serum reactivity from patients with pemphigus vulgaris (PV, n = 20), epidermolysis bullosa acquisita (EBA, n = 20) and dermatits herpetiformis (DH, n = 20) as well as from healthy donors (n = 4) measured in parallel on native laminin 332 and laminin-rich extracellular matrix of keratinocytes. (PNG 20 kb