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Biomedical subjects

M Fimiani

Publications and source records attributed to M Fimiani.

At least 37 records · Page 2Linked to original sources
PubMed2003

18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.

The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.

Abnormalities, Multiple↗
PubMed2003

Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement.

Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is a rare congenital neurocutaneous disease. It is characterized clinically by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye, ipsilateral porencephalic cysts with cortical atrophy, cranial asymmetry, marked developmental delay and mental retardation. This syndrome should be distinguished from other mosaic neurocutaneous phenotypes such as as Delleman syndrome, Schimmelpenning syndrome, Goltz syndrome, Goldenhar syndrome and Proteus syndrome. Here we report a case of Haberland syndrome with bilateral involvement which underscores the extreme heterogeneity of clinical presentation of this and related syndromes.

Biopsy↗
PubMed2003

Extracorporeal photochemotherapy in the treatment of eosinophilic fasciitis.

BACKGROUND: Eosinophilic fasciitis (EF) is a rare connective tissue disorder characterized clinically by symmetrical swelling, induration and thickening of the skin and histologically by thickening of the fascia with chronic inflammatory infiltrate containing eosinophils. The disease is classified in the spectrum morphea/systemic sclerosis and treated with systemic steroids and other immunosuppressant drugs. OBJECTIVE: The purpose of this study was to use extracorporeal photochemotherapy (ECP) in patients with EF to evaluate the effectiveness of this therapy. SUBJECTS AND METHODS: Three patients affected by EF were treated with ECP because they failed to respond or with contraindications to immunosuppressant treatment. The patients underwent ECP with a UVAR XTS apparatus. Subjects were treated on two consecutive days at 2-week intervals for the first 3 months and thereafter every 4 weeks on the basis of clinical response. The patients were assessed before therapy and then monthly by means of a clinical score. Changes in affected areas were evaluated at predetermined points by computerized skin elastometry (Cutometer SEM 474). RESULT: After 1 year of therapy we found considerable improvement of clinical parameters in two cases. There was less striking improvement in the other case. These clinical results were confirmed by the elastometry measurements. All patients reported improved quality of life, which enabled a reduction in the dose of immunosuppressants. CONCLUSION: ECP emerged as a safe and effective therapy in association with low doses of immunosuppressants in our three patients. A randomized comparative multicentre study between ECP as single therapy and ECP plus immunosuppressants and conventional therapies is required to firmly establish photopheresis as a possible basic treatment to combine with conventional therapies for EF.

Adrenal Cortex Hormones↗
PubMed2003

A new surgical approach for the treatment of severe epithelial skin sun-induced damage.

BACKGROUND: Cutaneous photoageing is a complex biological process affecting all layers of the skin. Skin damage resulting from intrinsic ageing and extrinsic photoageing may trigger skin cancer. In patients with advanced photoageing and/or diffuse actinic damage, local therapy is often inadequate and the possibility of combined therapy needs to be assessed. SUBJECTS: Here we report three cases of patients over 75 years of age with advanced diffuse epithelial skin damage of photoexposed areas consisting of several superficial actinic keratoses, ipermelanotic lesions and multiple skin cancers. METHODS: Neoplastic lesions and damaged skin were removed by superficial erbium laser ablation and the epidermis reconstructed with autologous epidermal sheets expanded in vitro from healthy cells obtained from unexposed areas of the body. RESULTS: Our initial studies show that this procedure is very effective in the short term for treating and preventing the UV-induced skin cancer and precancerous lesions, and also suggest good long-term control of the disease with very interesting aesthetic results.

Age Factors↗
PubMed2002

Quantitative in situ evaluation of telomeres in fluorescence in situ hybridization-processed sections of cutaneous melanocytic lesions and correlation with telomerase activity.

BACKGROUND: Telomere length is correlated with cellular ageing and immortalization processes. In some human cancers telomere length measurement has proved to be of diagnostic and prognostic value. Results comparable with the traditional terminal restriction fragment length determination by Southern blotting have been obtained in metaphase and interphase cells in some studies by fluorescence in situ hybridization (FISH) analysis; FISH additionally allows for the quantification of telomeres at the cellular level. OBJECTIVES: In this study, 32 melanocytic lesions were analysed by FISH, aiming at investigating possible telomere differences among various benign and malignant lesions and correlation with telomerase activity (TA) level. METHODS: FISH was performed on paraffin sections from six common naevi, eight Spitz naevi, 12 melanomas, six melanoma metastases and nine control samples of normal skin. Telomere mean maximum diameter (Feret max), area and number per nuclear area were calculated by image analysis on fluorescent images elaborated through KS400 and in situ imaging system (ISIS) for FISH analysis programs. Mean TA level was also calculated in all lesions and correlated with telomere parameters. RESULTS: Telomere number per nuclear area was significantly lower in melanomas and metastases than in benign common and Spitz naevi and in control skin (7 small middle dot24 +/- 3.3; 6.11 +/- 3 vs. 14.46 +/- 5.6; 16.92 +/- 7.8; and 12.59 +/- 3.4, respectively; P < 0 .001). No significant differences were found for the other telomere parameters. In common and Spitz naevi, telomere number was positively correlated with Feret max (P = 0.046 and P < 0.0001, respectively). TA was significantly higher in melanomas and metastases than in the other groups (70.18 +/- 25.2; 105.07 +/- 30 vs. 2.16 +/- 2.4; 2 .99 +/- 2.1; 2 +/- 1.2, respectively; P< or = 0. 001) and it was inversely correlated with telomere number per nuclear area in melanomas (P = 0.0041). No other significant correlations were found. CONCLUSIONS: Encouraging results have been obtained from quantitative telomere evaluation in the diagnosis of melanocytic lesions, although an analysis of a larger number of cases would be necessary to provide more reliable data. An extreme shortening of some telomeres probably results in the decrease of telomeric signals and the lower mean number of detectable telomeres in melanomas and metastases. In melanomas, telomere number per nuclear area is also inversely correlated with TA levels. Quantitative FISH of melanocytic lesions could give more specific information at the cellular level in telomere and telomerase fields of investigation.

Case-Control Studies↗
PubMed2002

Immunohistochemical study of subcutaneous phaeohyphomycoses.

Immunohistochemical study of inflammatory infiltrate was carried out in five cases of subcutaneous phaeohyphomycosis before and after therapy. The infections were due to the genus Alternaria in four cases and genus Cladosporium in one. In four cases, infiltrating T cells with helper memory phenotype were slightly more abundant after therapy (70-80% versus 75-90% of T lymphocytes) and those with suppressor cytotoxic phenotype were slightly less abundant (20-25% versus 10-15%). In one case, CD8+, Tia-1+ lymphocytes constituted 50% of the T-cell infiltrate before and after therapy. In all cases, the infiltrate contained many CD79 a+ plasma cells, which increased slightly after therapy, and a high CD1a positivity of dendritic cells (presumably Langerhans cells) before and after therapy. The CD1a+ cells were detected in the epidermis and in granulomatous infiltrate; in the dermis and subcutis, many were close to fungal structures. In four cases, intra-epidermal CD1a+ cell number was slightly lower than in control skin. CD68+ cells were not found in the epidermis.

Giant Cells↗
PubMed2001

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

Pseudoxanthoma elasticum (PXE) is a mendelian disorder characterized by calcification of elastic fibers in skin, arteries, and retina. It results in dermal lesions, arterial insufficiency and retinal hemorrhages, leading to macular degeneration. PXE is transmitted either as an autosomal dominant or recessive trait and several sporadic cases have been observed. Mutations in the ABCC6 gene have been identified very recently in patients. Here, we report on a large Italian family affected by pseudoxanthoma elasticum for which linkage analysis had pointed to a region encompassing markers D16S3069-D16S405-D16S3103; hemizygosity of marker D16S405 allowed us to detect a submicroscopic deletion of at least 900 kb involving ABCC6, ABCC1, and MYH11. Mutation analysis on the other allele of the family, as well as on two additional sporadic cases, revealed nonsense (Y227X, R518X, R1164X) and frame-shift (c.960delC) mutations in ABCC6 (MRP6) further confirming the role of this multi-drug resistance gene in the etiology of pseudoxanthoma elasticum. Furthermore, clinical re-examination of members of the family harboring the deletion led to the detection of additional features, potentially caused by the deletion of the MYH11 gene. In the course of the analysis five nonpathogenic variants were found in ABCC6: 1233T>C, 1245G>A, 1838 T>G (V614A), 1890C>G, and 3506+83C>A. Hum Mutat 18:85, 2001.

Adult↗
PubMed2001

Two sporadic cases of idiopathic multiple minute digitate hyperkeratosis.

Multiple minute digitate hyperkeratosis (MMDH) is a skin disease of unknown aetiology characterized clinically by multiple minute asymptomatic keratotic lesions with spiky horny projections. The disorder has been classified into early (congenital) and late (acquired) onset forms, the latter occurring as a presenting sign of concomitant inflammatory, metabolic or malignant disease. Here we report two cases of late onset MMDH without any associated pathology. These cases emphasize that some cases of late-onset MMDH may be idiopathic.

Aged↗
PubMed2001

Sweet's syndrome and Chlamydia pneumoniae infection.

We report the case of a patient in whom Sweet's syndrome developed during pneumonia caused by Chlamydia pneumoniae. Increased expression of helper T-cell type 1 cytokine secretion pattern in peripheral blood has recently been observed in patients with this syndrome, and chlamydia infection is known to primarily activate a helper T-cell type 1 immunologic response.

Chlamydia Infections↗