Ernesto Bonifazi

Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity?

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.

Natural evolution of Spitz nevi.

Background: The natural evolution of melanocytic nevi is a complex, multifactorial process that can be studied by monitoring nevi on a long-term basis. Methods: To assess the evolution pathway of Spitz nevi, lesions with clinical and dermoscopic features suggestive of Spitz nevi were monitored and baseline and follow-up images compared. Results: Sixty-four patients (mean age 10.4 years) with lesions suggestive of Spitz nevi were included. Lesions were monitored for a mean follow-up period of 25 months. Upon side-by-side evaluation of baseline and follow-up images, 51 (79.7%) lesions showed an involution pattern and 13 (20.3%) lesions showed a growing or stable pattern. No significant differences were found between growing and involving lesions in terms of patient age and sex and the location and palpability of lesions. The great majority of growing lesions were pigmented or partially pigmented (92.3%), whereas 47.1% of lesions in involution were amelanotic (p = 0.005). Conclusion: In this series of lesions clinically and dermoscopically diagnosed as Spitz nevi, spontaneous involution seems to be the most common biologic behavior.

Granuloma gluteale infantum with atrophic scars: clinical and histological observations in eleven cases

Eleven infants, 4 to 5 months old, treated for napkin (diaper), seborrhoeic or atopic dermatitis with topical fluorinated steroids, developed granulomatous lesions in the napkin area. Seven patients were followed up for more than 6 months: in four of them the granulomatous lesions regressed leaving lax atrophic scars. It is suggested that fluorinated steroid creams and plastic pants are the precipitating causes.

Psychiatric Symptoms and Quality of Life in Patients Affected by Epidermolysis Bullosa

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.

Perinatal gangrene of the buttock: An iatrogenic or spontaneous condition?

Three cases of neonatal gangrene of the buttock are reported. They were characterized by: localization to the skin and muscles of one buttock; sudden onset, minutes after birth; sciatic palsy in two of three and absence of known causes, except for an umbilical injection at birth in two of three. This procedure seems responsible in the first two; the etiology of the apparently spontaneous third case is discussed.

A Novel De Novo Missense Mutation in TP63 Underlying Germline Mosaicism in AEC Syndrome: Implications for Recurrence Risk and Prenatal Diagnosis

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.

End-stage renal disease secondary to IgA nephropathy in recessive dystrophic epidermolysis bullosa: a case report

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.

Clinical and immunological aspects of sporotrichosis cutanea

A series of 14 cases of Sporotrichosis cutanea is reported. Epidemiological and clinical aspects of the disease are discussed in the light of recent data. In addition to cultures, the diagnostic methods to he considered include an indirect immunofluorescence test, which is positive at variable titre and for which use may he made of normal human antiserum or anti‐immunoglobulin, mainly IgG and IgM, antisera.

Pathogenetic Factors in Urticaria in Children

Results of a study in 62 patients with urticaria and 30 controls, all under 12 years of age, are reported. The study involved history taking and assays of immunoglobulins A, G, M, D, E, of complement

Keratoacanthomas and Spitz Tumors: Are They Both ‘Self-Limiting’ Variants of Malignant Cutaneous Neoplasms?

The first striking similarity between KA and ST is represented by their evolution, which is characterized by 3 phases, namely growth, stabilization and involution, as shown in figure 1 [1, 7, 8] . The first phase is characterized by a rapid increase in size within a few weeks or months. Such a high proliferation rate is extremely unusual for any kind of benign melanocytic skin tumor and almost exclusively observed in biologically aggressive tumors such as nodular melanoma [9] . Thus, the growth attitude of KA and ST is in favor of the malignant nature of these cutaneous neoplasms. In contrast, the subsequent stabilization and final involution deviate clearly from the expected course of a malignant tumor, and move KA and ST closer to the spectrum of benign skin neoplasms. Involution of KA is a well-recognized phenomenon, but it has been only recently described in ST ( fig. 2 ). In our original report, we observed the progressive disappearance of 2 cases of pigmented ST in children during a follow-up period of 6 months and 3 years, respectively [8] . Since then, further cases of involuting ST in children have been published [10–12] . Although these preliminary data do not allow estimating the proportion of ST undergoing involution, From a purely morphological point of view, keratoacanthoma (KA) is a form of squamous cell carcinoma (SCC) since it reveals similar clinical and histopathological-cytological features as SCC [1] . However, it is well recognized that the morphological similarity between KA and SCC contrasts with their different biological attitudes. While SCC is a biologically malignant tumor characterized by the potential to progress, destroy tissue, metastasize and cause death, KA consistently undergoes spontaneous involution [1, 2] . For this reason, KA is widely accepted to be a self-limiting or ‘biologically benign’ variant of SCC. Such a disparity between ‘malignant’ morphology and ‘benign’ biology exists also within the spectrum of melanocytic neoplasms, as in the case of Spitz tumors (ST). This group of melanocytic proliferations can be morphologically indistinguishable from melanoma but follow typically a benign clinical course [3–6] . Consequently, it is legitimate to question whether the concept of the existence of a ‘self-limiting’ variant can be extended to the spectrum of melanocytic ‘spitzoid’ tumors. Indeed, common features between KA and ST do exist supporting such a concept, which we will discuss further in detail. Published online: April 16, 2009