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Bianca Maria Piraccini

Publications and source records attributed to Bianca Maria Piraccini.

At least 19 recordsLinked to original sources
PubMed2025

Epistasis of ERAP1 With 4 Major Histocompatibility Complex Class I Alleles in Frontal Fibrosing Alopecia: A Genome-Wide Association Study Meta-Analysis.

IMPORTANCE: Frontal fibrosing alopecia (FFA) is an inflammatory and scarring form of hair loss of increasing prevalence that most commonly affects women. An improved understanding of the genetic basis of FFA will support the identification of pathogenic mechanisms and therapeutic targets. OBJECTIVE: To identify novel genomic loci at which common genetic variation affects FFA susceptibility and assess nonadditive effects on genetic risk between susceptibility loci. DESIGN, SETTING, AND PARTICIPANTS: Four genome-wide association studies were combined using an SE-weighted meta-analysis. Within the major histocompatibility complex (MHC) locus, stepwise conditional analysis was undertaken to determine independently associated classical MHC class I alleles. Statistical tests for epistatic interaction were performed between risk alleles at the MHC and endoplasmic reticulum aminopeptidase 1 (ERAP1) loci. MAIN OUTCOMES AND MEASURES: Genome-wide significant locus associated with FFA and nonadditive effects on genetic risk between susceptibility loci. RESULTS: Of 6668 included patients, there were 1585 European female individuals with FFA and 5083 controls. Genome-wide significant associations were identified at 4 genomic loci, including a novel susceptibility locus at 5q15, and the association signal could be fine-mapped to a single nucleotide substitution (rs10045403) in the 5' untranslated region of ERAP1 (rs10045403; odds ratio, 1.30; 95% CI, 1.19-1.43; P = 3.6 × 10-8). Within the MHC, FFA risk was statistically independently associated with HLA-A*11:01, HLA-A*33:01, HLA-B*07:02, and HLA-B*35:01. FFA risk was affected by genetic variation at the ERAP1 locus only in individuals who carried at least 1 of the MHC class I risk alleles. CONCLUSIONS AND RELEVANCE: In this genome-wide meta-analysis, a supra-additive effect of genetic variation was found that affected peptide trimming and antigen presentation on FFA susceptibility. Patients with FFA may benefit from emerging therapeutic approaches that modulate ERAP-mediated processes.

Female↗
PubMed2006

Lipedematous alopecia of the scalp.

Lipedematous scalp is a rare disorder, mainly described in adult African-American females. We report 2 adult caucasian males with lipedematous scalp associated with androgenetic alopecia. Patients were studied by dermoscopy and histopathology; they were treated with finasteride 1 mg. In our patients, lipedematous scalp affected the occipital and the vertex areas and pathologically exhibited mild edema and thickening of the adipose subcutaneous layer. At videodermoscopy, lipedematous scalp areas showed linear areas of teleangiectasia within the scalp creases, possibly caused by compression of the superficial blood capillaries by the increased volume of the subcutaneous fat layer within the thickened scalp. Finasteride at a dose of 1 mg per day for 1 year induced mild improvement of androgenetic alopecia in one patient and stabilization of the disease in the other. The lipedematous scalps remain unchanged. Lipedematous scalp is apparently a rare disease even though the condition is probably underdiagnosed. As a matter of fact, we diagnosed lipedematous scalp in our patients during a clinical examination for androgenetic alopecia, which was the patients' complaint. The association of lipedematous scalp and androgenetic alopecia in our two patients appears to be coincidental.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed2006

Finasteride treatment of female pattern hair loss.

OBJECTIVE: To evaluate the efficacy of oral finasteride therapy associated with an oral contraceptive containing drospirenone and ethinyl estradiol in premenopausal women with female pattern hair loss. SETTING: Outpatient consultation for hair disorders at the Department of Dermatology, University of Bologna. PATIENTS AND INTERVENTION: Thirty-seven women with female pattern hair loss were treated with oral finasteride, 2.5 mg/d, while taking an oral contraceptive containing drospirenone and ethinyl estradiol. Treatment efficacy was evaluated using global photography and the hair density score from videodermoscopy. A self-administered questionnaire was used to assess patient evaluation of treatment effectiveness. RESULTS: At 12-month follow-up, 23 of the 37 patients were rated as improved using global photography (12 were slightly improved, 8 were moderately improved, and 3 were greatly improved). No improvement was recorded in 13 patients. One patient experienced worsening of the condition. There was a statistically significant (P = .002) increase in the hair density score in 12 patients. No adverse reactions to the drug were reported. CONCLUSIONS: Sixty-two percent of the patients demonstrated some improvement of their hair loss with the use of finasteride, 2.5 mg/d, while taking the oral contraceptive. It is unclear whether the success was due to a higher dosage of finasteride (2.5 mg instead of 1 mg) or to its association with the oral contraceptive containing drospirenone, which has an antiandrogenic effect. Further studies are necessary to understand which patterns of female pattern hair loss respond better to this treatment.

5-alpha Reductase Inhibitors↗
PubMed2006

Drug-induced nail diseases.

Although many nail disorders have been associated with drug intake, most reports are anecdotal. Most nail changes caused by drugs are the outcome of acute toxicity to the nail epithelia; nail symptoms depend on which nail structure is damaged. The most com-mon symptoms include Beau's lines/onychomadesis, melanonychia, onycholysis, and periungual pyogenic granulomas. Drug-induced nail abnormalities are usually transitory and disappear with drug withdrawal, but sometimes persist over time. This article reviews drugs that have been consistently associated with nail abnormalities.

Adrenergic beta-Antagonists↗
PubMed2006

The nail in systemic diseases.

Although abnormalities of the nails have been reported in different systemic disorders,most of these abnormalities are nonspecific. This article reports and discusses only those nail signs that provide the clinician with clues for the diagnosis of systemic disorders.

Cardiovascular Diseases↗
PubMed2005

Frontal fibrosing alopecia in postmenopausal women.

BACKGROUND: Frontal fibrosing alopecia is a variety of cicatricial alopecia characterized by a band of frontal/frontoparietal hair recession and marked decrease or a complete loss of the eyebrows, typically observed in women who are postmenopausal. OBJECTIVE: The purpose of this study was to report clinical and histopathologic findings and results of treatment in a group of women affected by the disease. METHOD: A total of 14 women with alopecia of the frontal hairline were evaluated from June 2000 through July 2003 in our outpatient consultation for hair disorders. RESULTS: Clinical examination revealed a band of symmetric recession of the frontoparietal hairline extending to the preauricular areas associated with loss of follicular orifices, mild skin atrophy, and perifollicular erythema at the scalp margin. In all, 9 patients also had partial or total loss of the eyebrows. The histologic features of the scalp specimens were similar in all our patients with a reduction of the number of hair follicles, and a high number of intermediate and velluslike follicles. Intemediate and velluslike follicles were more commonly affected than terminal follicles by the lymphocytic inflammatory infiltrate and perifollicular fibrosis. CONCLUSION: Frontal fibrosing alopecia is a cicatricial alopecia that follows destruction of hair follicles by an inflammatory lymphocytic infiltrate that is localized around the upper portion of the hair follicle. It differs from lichen planopilaris because the lymphocytic infiltrate and fibrosis affect selectively the intermediate and the velluslike follicles of the frontal margin and eyebrows. The reason for this selective involvement is still unknown. Frontal fibrosing alopecia may represent a variety of lichen planopilaris with selective involvement of certain androgen-dependent areas. The affected follicles may have typical biologic markers that could explain the clinical and histologic features found in the disease. It is interesting to note that some of the patients treated with finasteride (2.5 mg/d) showed an arrest in the progression of the disease. Even if there is no proof for a hormonal basis of the disease, the effectiveness of finasteride in some patients may indicate that androgens might be partially responsible of the pathogenesis of the disease.

Aged↗
PubMed2005

Congenital pseudoclubbing of a fingernail caused by subungual hemangioma.

BACKGROUND: Nail dystrophies in newborns are rare and are particularly frightening when they appear as masses involving a single digit, suggesting the possibility of a tumor. OBJECTIVE: The aim of this study is to report 3 infants with a congenital pseudoclubbing appearance of a digit and with a reddish discoloration caused by the presence of a subungual hemangioma. METHODS: Diagnosis was based on clinical examination and ultrasonography. RESULTS: Clinical presentation and vitrocompression showed the presence of a vascular mass. Ultrasonography confirmed the diagnosis of a subungual hemangioma. The lesions showed a spontaneous regression on follow-up. CONCLUSION: Localization of hemangioma under the proximal nailfold is extremely rare and produces nail pseudoclubbing caused by capillary vessel proliferation in the soft tissue of the subungual region, which is associated with a reddish discoloration of the nail that typically fades with compression. Hemangiomas of infancy located in the proximal nailfold are rare, and, in our opinion, not at risk to become big masses with tissue damage and compression.

Female↗
PubMed2005

Treatment of onychomycosis with oral antifungal agents.

Onychomycosis is the most common nail disease and describes the invasion of the nail by fungi. Different clinical patterns of infection depend on the way and the extent by which fungi colonise the nail: distal subungual onychomycosis, proximal subungual onychomycosis, white superficial onychomycosis, endonyx onychomycosis and total dystropic onychomycosis. The type of nail invasion depends on both the fungus responsible and on host susceptibility. Treatment of onychomycosis depends on the clinical type of the onychomycosis, the number of affected nails and the severity of nail involvement. The goals for antifungal therapy are mycological cure and a normal looking nail. In this paper the treatment of onychomycosis with oral antifungal agents will be reviewed.

Administration, Oral↗
PubMed2005

The disappearing nail bed: a possible outcome of onycholysis.

Onycholysis is a separation of the nail plate from the underlying and/or lateral supporting structures (hyponychium, nail bed, lateral nail folds). It is a commonly seen disorder that is usually asymptomatic. We have observed a number of cases of onycholysis in which the distal nail bed appeared to shrink. The nail bed becomes keratinized and produces dermatoglyphics like the normal tip of a digit. This may explain why it is difficult to promote reattachment. If onycholysis persists, the condition is more likely to become irreversible and form the "disappearing nail bed." The best chance of resolving onycholysis is to try to identify the causative agent and institute early therapy.

Epidermis↗
PubMed2004

Histological features of peripilar signs associated with androgenetic alopecia.

BACKGROUND: A study of the scalp in a large cohort of volunteers with androgenetic alopecia using macrophotographs showed the presence of peripilar signs (PPS) around the hair ostia. OBJECTIVE: The aim of the present study was to establish the histopathological features related to PPS. DESIGN: Prospective clinicopathological study. SETTING. Department of Dermatology, University Hospital of Bologna. PATIENTS: A group of 40 patients (21 males and 19 females) participated in the study. Macrophotographs of the scalp were taken using a Dermaphot camera and PPS were scored using a three-point scale. Hair density and PPS were clinically scored according to reference scales. Two punch biopsies from the photographed area were obtained from each subject and histological analysis was performed on vertical and horizontal sections. OBSERVATIONS: Clinical parameters indicated that PPS were already detectable on scalp with high hair density. Moreover, in patients with high hair density (score >4), a significant relationship was found between the PPS score and the global score for perifollicular infiltrates. Thus PPS are linked to superficial perifollicular lymphocytic infiltrates in early androgenetic alopecia. CONCLUSIONS: PPS could be the clinical signs reflecting the presence of perifollicular infiltrates.

Adult↗
PubMed2004

White superficial onychomycosis: epidemiological, clinical, and pathological study of 79 patients.

OBJECTIVE: To analyze the epidemiology, responsible agents, clinical features, and outcome of white superficial onychomycosis (WSO). DESIGN: Retrospective study. SETTING: University hospital. PATIENTS: A total of 79 patients with WSO seen at the Department of Dermatology of Bologna University from 1994 to 2002. Responsible agents included Trichophyton interdigitale in 58 cases (73%), Trichophyton rubrum in 4 (5%), Fusarium species in 9 (11%), Aspergillus species in 5 (6%), and Acremonium strictum in 3 (3%). RESULTS: White superficial onychomycosis may have different clinical and epidemiological features. "Classic" WSO, characterized by superficial nail plate involvement, is usually due to Trichophyton mentagrophytes (var interdigitale), although Acremonium strictum or Onychocola canadiensis can sometimes be responsible. A deep and diffuse WSO, characterized by massive penetration of the nail plate by fungi, can be seen in nail infections by molds such as Fusarium species and Aspergillus species, or in nail infections by Trichophyton rubrum in healthy children and in patients infected with human immunodeficiency virus. CONCLUSIONS: Severity and spread of WSO is the result of complex host-parasite relationships. When dealing with a patient with WSO, we should always consider the causative organism and the host characteristics to choose the best therapeutic approach.

Acremonium↗
PubMed2004

The nail and hair in forensic science.

Drugs, chemicals, and biological substances accumulate and are stored in hair and nails where they can be detected and measured. Advantages of analyzing hair and nail samples also include their easy and non-invasive collection, the small sample size required for analysis, and their easy storage at room temperature. We report 3 examples of heavy metal poisoning diagnosed because of the hair or nail symptoms. Drugs and toxins that can be detected in hair and nails are reviewed and the application of hair/nail analysis in general and in forensic medicine is discussed.

Adolescent↗
PubMed2004

Drug-induced nail abnormalities.

A large number of drugs may be responsible for the development of nail changes, including cancer chemotherapeutic agents and retinoids, however, only a few classes of drugs are consistently associated with nail symptoms. Drug-induced nail abnormalities result from toxicity to the matrix, the nail bed, the periungual tissues or the digit blood vessels. The most common symptoms include Beau's lines, onychomadesis, melanonychia, onycholysis and periungual pyogenic granulomas. Drug-induced nail changes usually involve several or all of the nails. In most cases, nail abnormalities are asymptomatic, but can sometimes cause pain and impair manual activities.

Drug-Related Side Effects and Adverse Reactions↗