E Bonifazi

Università degli Studi di Bari Aldo Moro, Bari, Apulia, Italy

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Publications (53)78.02 Total impact

  • Ernesto Bonifazi, Antonella Milano, Caterina Foti
    Contact Dermatitis 10/2014; 71(4). · 2.93 Impact Factor
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    Mario Cutrone, ernesto bonifazi
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    ABSTRACT: The term cutis marmorata is used to indicate both a physiological reaction to the cold occurring in many babies and sometimes even in older children and a persistent capillary-venous malformation. The latter is mostly visible at birth, when necrotic and ulcerative lesions can be associated, and then improves in decades. The different prognosis calls for a differential diagnosis between the two conditions.
    Eur. J. Pediat. Dermatol. 01/2014; Eur. J. Pediat. Dermatol.(24, 4-5, 2014).
  • Cutrone M, Milano A, Rovatti G, Bonifazi E
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    ABSTRACT: We revisit the anatomical variants of the male genitalia (pigmentary changes, variants of the median raphe, pearly penile papules, sebaceous hyperplasia, non-retractable foreskin, smegma pseudocysts), female genitalia (hypertrophy of the labia, vaginal discharge, hymen tags, fusion of the labia minora, furrows and maceration of the lips, vestibular papillomatosis) and anus (infantile perianal protrusion). These anatomical variants can simulate pathological conditions which must be differentiated. The anatomical variants in most cases do not require any therapy.
    European Journal of Pediatric Dermatology 05/2013; 23, 29-45, 2013.
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    Dataset: 35414 fta
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    ABSTRACT: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare autosomal dominant ectodermal dysplasia syndrome. It is caused by heterozygous mutations in TP63, encoding a transcriptional factor of the p53 family. Mutations in TP63, mainly missense in exons 13 and 14 encoding the sterile alpha motif (SAM) and the transactivation inhibitory (TI) domains, account for 99% of mutations in individuals with AEC syndrome. Of these, ≥70% are de novo mutations, present in the affected patient, but not in parents nor in healthy siblings. However, when a mutation appears de novo, it is not possible to differentiate between a sporadic mutation, or germline mosaicism in the parents. In this latter case, there is a risk of having additional affected offspring. We describe two sisters with AEC syndrome, whose parents were unaffected. Both patients carried the heterozygous c.1568T>C substitution in exon 13 of TP63, resulting in a p.L523P change in the SAM domain of the protein. Analyses of DNA from parental blood cells, seminal fluid (from the father) and maternal cells (buccal, vaginal, and cervical) did not reveal the mutation, suggesting that the mosaicism may involve a very low percentage of cells (very low grade somatic mosaicism) or, more likely, maternal gonadal mosaicism. Mosaicism must be considered for the assessment of recurrence risk during genetic counseling in AEC syndrome, and pre-implantation/prenatal genetic diagnosis should be offered to all couples, even when the mutation is apparently de novo.
    American Journal of Medical Genetics Part A 06/2012; 158A(8):1957-61. · 2.30 Impact Factor
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    ABSTRACT: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare autosomal dominant ectodermal dysplasia syndrome. It is caused by heterozygous mutations in TP63, encoding a transcriptional factor of the p53 family. Mutations in TP63, mainly missense in exons 13 and 14 encoding the sterile alpha motif (SAM) and the transactivation inhibitory (TI) domains, account for 99% of mutations in individuals with AEC syndrome. Of these, ≥70% are de novo mutations, present in the affected patient, but not in parents nor in healthy siblings. However, when a mutation appears de novo, it is not possible to differentiate between a sporadic mutation, or germline mosaicism in the parents. In this latter case, there is a risk of having additional affected offspring. We describe two sisters with AEC syndrome, whose parents were unaffected. Both patients carried the heterozygous c.1568T>C substitution in exon 13 of TP63, resulting in a p.L523P change in the SAM domain of the protein. Analyses of DNA from parental blood cells, seminal fluid (from the father) and maternal cells (buccal, vaginal, and cervical) did not reveal the mutation, suggesting that the mosaicism may involve a very low percentage of cells (very low grade somatic mosaicism) or, more likely, maternal gonadal mosaicism. Mosaicism must be considered for the assessment of recurrence risk during genetic counseling in AEC syndrome, and pre-implantation/prenatal genetic diagnosis should be offered to all couples, even when the mutation is apparently de novo.
    American Journal of Medical Genetics Part A 06/2012; · 2.30 Impact Factor
  • Mario Cutrone, irene berti, ernesto bonifazi
    Medico e Bambino 04/2011;
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    ABSTRACT: The aim of our study was to provide a psychosocial and psychiatric evaluation of patients with epidermolysis bullosa (EB; a rare genetic disorder characterized by skin fragility), to assess psychological status, ascertain the presence of any psychiatric disorders and understand the impact of EB on quality of life. Twenty-five patients were assessed using a case record form and several standardized instruments. In 82% of patients, EB had a negative impact on quality of life and 80% of patients experienced psychiatric symptoms. Our findings revealed a high prevalence of psychosocial problems and psychiatric symptoms in patients with EB and suggested that a combined bio-psychosocial approach is the most appropriate therapeutic intervention.
    Journal of Clinical Psychology in Medical Settings 12/2010; 17(4):333-9. · 1.49 Impact Factor
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    ABSTRACT: A 27-day-old male infant with diffuse hemangiomatosis of the skin and liver was treated with oral propranolol at a dosage of 2 mg/kg per day. Five months later skin and liver hemangiomas regressed almost completely. After 160 days of onset of propranolol, the patient presented with seizures on waking up. Laboratory examinations showed blood glucose of 15 mmol (n.v. 50-110) and increased ketone bodies. Propranolol was recommenced at a lower dosage the day after the crisis and then withdrawn when the baby was aged ten months. Hypoglycemia is the most frequent and insidious side effect of propranolol, mainly occurring in circumstances with diminished oral intake. Although the risk appears small, increased vigilance for hypoglycemia in children on chronic propranolol treatment who have decreased caloric intake for any reason seems prudent.
    Pediatric Dermatology 02/2010; 27(2):195-6. · 1.04 Impact Factor
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    ABSTRACT: Between March and October 2008, the nails of 541 (252 females, 289 males) consecutively born neonates with an average age of 3.2 days were examined in the Neonatology Unit. Of these newborns with nail disorders, 36 were re-examined after a period that ranged from seven days to six months. The most frequent nail alteration was the incomplete development of the hallux nail, which was triangular - sometimes trapezoidal - shaped. This alteration, which had been previously reported in the literature as congenital hypertrophy of the lateral folds of the hallux, spontaneously regressed within one to three months in the infants re-examined. There was no associated inflammation or onychocryptosis at any time. The apparent hypertrophy of the nail folds seemed to be secondary to the lack of pressure of the nail lamina.
    Dermatology online journal 01/2010; 16(6):1.
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    ABSTRACT: A 2-year-old girl was first observed due to angiomatous lesions of the left parietal region and neck, which were present since birth. Her mother told us a very precise history, documented by photos. The lesions were present since birth, their distribution and extent did not change with time and there was not a growing phase. On physical examination the little girl presented on her left frontal and parietal region and on the neck angiomatous lesions. The latter were confluent upon the ear. Three isolated, 3 cm in size lesions were located on the neck under the ear. Two smaller, isolated lesions were located on the left parietal region behind the largest confluent patch and finally a few mm in size angiomatous lesions were located on the rear surface of the left helix and preauricular region. The larger lesions were characterized by a peripheral barely raised border and by a whitish, atrophic center crossed by the hairs (Fig. 4). The photos given by her mother confirmed that distribution and extent of the lesions did not change with time and showed that the lesions at birth were uniformly red colored (Fig. 1, 2) and that after the first year turned into atrophic white lesions in the center (Fig. 3). With time atrophy got progressively more evident and extended towards the periphery, where a red, 6-8 mm in size border still persisted. The patient was observed by pediatricians, dermatologists, pediatric dermatologists and vascular surgeons, their diagnosis ranging between hemangioma and capillary malformation. Color Doppler ultrasonography performed in the IRCCS Giannina Gaslini Institute did not remove the doubt between hemangioma and capillary and venous malformation. Brain MRI did not show pathological findings. In the same department an isolated lesion of the neck was removed and the histological examination showed capillaries and venules in the dermis and subcutaneous fat tissue, leading to the final diagnosis of vascular malformation of venous capillary type. A careful observation of the histological sections showed in the middle of the lesion a thinned dermis with decreased number of vessels and an almost rectlineal dermal epidermal junction. These findings were consistent with the clinical atrophic appearance of the superficial skin.
    European Journal of Pediatric Dermatology 01/2009;
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    ABSTRACT: Epidermolysis bullosa (EB) consists of a group of dominant or recessive autosomal diseases characterised by skin and mucosa fragility. The lesions leave erosions and scars that, in turn, can cause stenosis of tracheal, oesophageal, and genitourinary tract mucosae. The significantly increased survival of EB patients has determined the onset of complications never observed before, including genitourinary disorders such as hydroureteronephrosis, recurrent urinary tract infections, renal amyloidosis, IgA nephropathy and post-infectious glomerulonephritis. A 6-year-old boy diagnosed with recessive dystrophic EB Hallopeau-Siemens type (RDEB-HS) was referred to our clinic because of microhaematuria that evolved into intra-infectious macrohaematuria. Renal biopsy revealed an increase in both extracellular matrix and mesangial cells, with a focal segmental glomerulosclerosis with severe chronic tubulointerstitial damage. Immunofluorescence showed IgA mesangium deposits. Five years later, he was started on haemodialysis, because of worsening renal function. This is a rare case of a child with EB who was successfully treated with haemodialysis. The pertinent literature has been reviewed.
    Pediatric Nephrology 02/2008; 23(1):141-4. · 2.94 Impact Factor
  • Contact Dermatitis 04/2006; 7(3):161 - 161. · 2.93 Impact Factor
  • Contact Dermatitis 04/2005; 52(3):162-3. · 2.93 Impact Factor
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    ABSTRACT: Facial hemangioma is usually isolated but its association with craniocervical arterial anomalies and structural brain malformations is well known. The acronym PHACE syndrome (posterior fossa malformation, facial hemangiomas, arterial anomalies, cardiac/aortic anomalies, and eye abnormalities) has been used to indicate that disorder in which brain anomalies are mainly represented by the Dandy-Walker malformation. We report on a 10-month-old boy affected by facial hemangioma and a complex cortical dysplasia located in the left frontal region. The lesion was characterized by a deeply infolding pachygyric cortex and a band of gray matter lining the wall of the lateral ventricle. The entire left cerebral hemisphere appeared hypoplastic. No anomalies of the posterior fossa structures or cardiac/aortic malformations were present. An overlapping clinical/pathological pattern was previously reported in another patient with facial hemangioma and cerebrovascular anomalies. These observations seem to indicate that the facial hemangiomas may be associated with disorders of the cortical development.
    American Journal of Medical Genetics Part A 02/2004; 124A(2):192-5. · 2.30 Impact Factor
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    ABSTRACT: Atopic dermatitis (AD) is common in children in industrialized countries. Only one large population study on its prevalence has been conducted in Italy, based on self-report questionnaire. The present study was designed to estimate the prevalence of AD in schoolchildren in Italy by dermatologists' assessment and by UK Working Party criteria, and to investigate associated symptoms and factors. Cross-sectional survey on a random sample of 9-year-old schoolchildren from seven Italian cities. Children were examined by experienced dermatologists. Parents and teachers answered standardized questionnaires. Of the 1369 children examined, 88 had a diagnosis of AD, with an estimated point prevalence of 5.8% (95% CI 4.5-7.1) in the reference population. The reported lifetime prevalence was 15.2 (95% CI 12.2-18.2) for AD, 11.9% (95% CI 9.0-14.8) for asthma, and 17.6% (95% CI 14.6-20.7) for rhino-conjunctivitis. The strongest associated factor was the presence of AD in at least one parent. No association of AD with maternal smoking during pregnancy, birth weight, maternal age at the time of the child birth and breast-feeding was observed. The environmental characteristics of the house and the school did not correlate with the prevalence of AD. Episodes of lower respiratory tract infections were associated with asthma, and to a lower extent also with AD and rhinitis. The prevalence of doctor-diagnosed AD in Italian schoolchildren is comparable to those reported for other developed countries. Family history of atopy was the single most important associated factor, while the complex interplay of environmental factors remains to be elucidated.
    Allergy 06/2003; 58(5):420-5. · 5.88 Impact Factor
  • E Bonifazi, F Mazzotta
    Journal of the American Academy of Dermatology 02/1998; 38(1):130. · 4.91 Impact Factor
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    ABSTRACT: Changes in angiogenesis and expression of extracellular matrix-degrading enzymes have been substantiated during progression of solid tumours, whereas information on haematological tumours remains circumstantial. In this study, 57 biopsies of mycosis fungoides (MF), a haematological tumour of T-cell lineage, were investigated immunohistochemically for the extent of angiogenesis, and by in situ hybridisation for the expression of matrix metalloproteinases 2 (MMP-2, collagenase A) and 9 (MMP-9, collagenase B). The biopsies we grouped according to the stage of progression: patch-->plaque-->nodular (most advanced). The extent of angiogenesis, as microvessel area, of MF lesions as a whole was significantly higher than that of normal uninjured skin, used as a control. When the stages of MF progression were compared, the values of MF patch stage overlapped that of control skin, while values were significantly higher in the plaque stage and even higher in the nodular stage. In these stages, microvessels were widely scattered in the tumour tissue, in close association with tumour cells, and they frequently displayed arborisation and microaneurysmatic dilation. In contrast, in the patch stage microvessels were irregularly distributed around the tumour aggregates, and arborisation or dilated structures were only rarely seen. The expression of MMP-2 and MMP-9 mRNAs underwent significant upregulation in relation to advancing stage. Indeed, the upstaging was significantly associated with higher proportions of lesions positive for each mRNA or for both, and with lesions with the greatest intensity of expression for each mRNA. Besides tumour cells, the MMP-2 mRNA was expressed by microvascular endothelial cells of intratumour and peri-tumour vessels, and by fibroblasts which were especially abundant in the stroma adjacent to the tumour nodules. The MMP-9 mRNA was found to be present in a subset of tissue macrophages which were more frequently located in close vicinity to the tumour nodules. In contrast, in control skin, a weak positivity for the MMP-2 mRNA in very few microvascular endothelial cells and no signal for the MMP-9 mRNA were observed. These in situ data suggest that angiogenesis and degradation of the extracellular matrix occur simultaneously during MF progression. They imply that interaction between tumour cells and their microvasculature are all the more likely to occur during progression, occasionally with the contribution of tumour-associated stromal cells.
    European Journal of Cancer 10/1997; 33(10):1685-92. · 5.06 Impact Factor
  • E Bonifazi, F Caprio
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    ABSTRACT: Many inherited skin diseases and nevus malformations are distributed according to the Blaschko's lines. Some inflammatory skin diseases are also distributed according to these lines. In 1989 a 49-year-old woman presented with an epidermal nevus affecting the left hand and leg from the infancy. In 1994, inflammatory, linear papules occurred on the left leg, obscuring and continuing the previous lesions, on the left thigh and on the left clavicular region. On light microscopy, spongiosis of the epidermis and an infiltrate of lymphocytes and histiocytes in the superficial dermis were shown. Subintrant crops of new inflammatory lesions occurred for a period of two years, whereas the nevus lesions of the left hand persisted unchanged. These findings led to the final diagnosis of blaschkitis associated to epidermal nevus on the same Blaschko's lines. The distribution of a skin disease according to the Blaschko's lines underlines the presence in the affected skin of a mutant clone, with a different genetic material as compared with the normal skin. An early mutation giving raise to a mutant clone and affecting the left hemibody could be hypothesized in our case. The mutation probably involved a pleiotropic gene. The latter initially was responsible for thickening of the skin. Moreover, the mutation was also responsible for a particular proneness towards an exogenous factors, able to induce a persistent inflammatory skin eruption following the same lines.
    Annales de Dermatologie et de Vénéréologie 02/1997; 124(10):713-6. · 0.60 Impact Factor
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    ABSTRACT: Ten samples of pyogenic granuloma and 10 of normal skin from age- and sex-matched controls were grafted onto the chick embryo chorioallantoic membrane (CAM) to investigate their possible angiogenic activity. The angiogenic response in pathological and control implants was assessed on histologic sections by a planimetric point-count method 4 days after grafting. The CAM mast cells were also quantified. The vascular counts in the area underlying the pyogenic granuloma were four times higher than those of normal skin. A higher number of mucosa-like mast cells was detected in the intermediate mesenchyme of the CAM in pathological samples in comparison to controls. Pyogenic granuloma may promote angiogenesis leading to release of several angiogenic factors. The role played in angiogenic response by the inflammatory cells, mainly mast cells, forming the perilesional infiltrate was supported by this study.
    International Journal of Microcirculation 01/1996; 16(2):82-8.

Publication Stats

276 Citations
78.02 Total Impact Points

Institutions

  • 1975–2014
    • Università degli Studi di Bari Aldo Moro
      • Dipartimento di Scienze Biomediche ed Oncologia Umana (DIMO)
      Bari, Apulia, Italy