Lorenza Ricci

Analysis of current data on the use of topical rapamycin in the treatment of facial angiofibromas in tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome causing hamartomatous growths in multiple organs. Facial angiofibromas occur in up to 80% of patients and can be highly disfiguring. Treatment for these lesions has historically been challenging. Recently, topical rapamycin has been proposed as an effective option to treat angiofibromas but a commercially available compound has not yet been developed.

The switch from non-IgE-associated to IgE-associated atopic dermatitis occurs early in life

Dear Sir, We have read with high interest the article by Bieber et al. (1) in which they suggest possible biomarkers associated to the three characteristic phenotypes of atopic dermatitis (AD) already proposed in 2008 (2): non-IgE-associated AD, IgEassociated AD, and autoimmune AD. As part of a protocol study aimed at correlating AD genotype and phenotype (AllerGene2), we obtained the clinical and allergological characteristics of 184 children with AD referred to the Pediatric Dermatology and Pediatric Allergology Outpatient Clinics of our Hospital. Allergometric tests (skin prick test and/or total and specific (s)IgE for the main food and inhalant allergens) were performed at the first observation (time 0), others at intermittent times according to the clinical needs, and at follow-up (time 1; mean age of follow-up 10 years). Concerning the non-IgE-associated form of AD, we decided to consider it as intrinsic AD, adopting the classification proposed by Wutrich (3) which defines it by (i) clinical phenotype of AD, according to the criteria of Hanifin and Rajka; (ii) absence of other atopic diseases such as allergic asthma and rhinoconjunctivitis; (iii) negative skin prick tests for common inhalant and food allergens and normal total serum IgE levels (according to age). Moreover, we chose to consider (i) normal level of total IgE as a value between 2 SD for age; (ii) negative sIgE as a value <0.7 kU/l for food and <0.35 kU/l for inhalant allergens without clinical symptoms. If we consider the characterization at time 0, that is, the first clinical and laboratory evaluation, performed before the age of 2 years (99 patients) or before the age of 5 (85 patients), 30/184 had been classified as having non-IgE-associated AD (16%). Later, at a median age of 36 months, 15 children became allergic, so that at time 1, after at least 10 years of follow-up, of the total 184 patients, 169 (92%) were classified as having IgE-associated and 15 (8%) nonIgE-associated AD (Table 1). All the 15 patients who switched from non-IgEto IgEassociated form had an early onset of AD and had been first referred to our Clinics before the age of 2; moreover, in 14/ 15 cases, the switch happened in the first 5 years of life. On the contrary, the 15 patients with persistent non-IgE-associated AD had a later age of onset (mean, 30 months; P < 0.00), while the other clinical characteristics were similar. Furthermore, we found that AD remission is more frequent among patients with the IgE-associated form (Fig. 1). There are a limited number of studies (4) reporting the results of allergometric tests performed during the first years of life in patients with AD and allowing classifying these cases according to Wutrich’s parameters; other authors have already observed a switch from a non-IgE-associated to an IgE-associated form (5). It is important to define the AD phenotype in childhood because it has been shown that early atopic sensitization in these patients is associated with a worse prognosis in terms of subsequent wheezing and asthma (6).

Congenital Volkmann Syndrome and Aplasia Cutis of the Forearm A Challenging Differential Diagnosis

IMPORTANCE Differential diagnosis between congenital Volkmann ischemic contracture (CVIC) and unilateral aplasia cutis congenita (ACC) type VII of the forearm presents a clinical challenge. Both diseases share the same clinical presentation characterized by a stellate ulceration over the upper extremities and reported association with neuromuscular defects, but the diagnostic criteria to differentiate these 2 entities remain unclear. OBSERVATIONS A newborn girl presented with an ulceration of the left forearm associated with an apparent neurological impairment. On the basis of the suspected neurological involvement, a diagnosis of CVIC was initially considered, but because the neurological evaluation excluded paralysis, our final diagnosis was ACC type VII. CONCLUSIONS AND RELEVANCE In our opinion, CVIC should be considered a particular form of ACC in which an external noxa affects the forearm, increasing the intracompartmental pressure and leading to muscle and nerve ischemia. Therefore, we propose that the definition of Volkmann ischemic contracture should be maintained only for the acquired forms with an evident etiology and that Friedens classification scheme for ACC type VII needs to be reformulated.

Tinea capitis y dermatoscopia

Las dermatofitosis son un importante motivo de consulta pediatrica, siendo la tina del cuero cabelludo la forma de dermatofitosis mas frecuente en la infancia1. En el presente caso, se muestra la dermatoscopia como tecnica exploratoria complementaria. Paciente de 7 anos, originario de Cabo Verde; acude por descamacion de cuero cabelludo, moderadamente pruriginosa, de 2 meses de evolucion. Se encontraba en Italia desde hacia un mes. La exploracion del cuero cabelludo presentaba una ligera descamacion, mas evidenciable con el raspado, sin eritema y sin placas alopecicas evidentes (fig. 1). En el examen por dermatoscopia, se hallaron pelos incurvados sobre su eje longitudinal, conocidos como pelos en coma, y pelos en sacacorchos (fig. 2). Con la sospecha de tinea capitis (TC), se realizo un cultivo de la descamacion de cuero cabelludo, dando como resultado Trichophyton violaceum. La TC es una condicion facilmente reconocible usualmente. El agente etiologico mas frecuente en los paises mediterraneos es Microsporum canis, generando placas alopecicas de varios centimetros de tamano2 .Sin embargo, la epidemiologia de las dermatofitosis es variable a lo largo del

Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature

Acrodermatitis enteropathic (AE) is a rare autosomal recessive disorder due to a zinc deficiency and characterized by a classical triad of symptoms: dermatitis, alopecia, and diarrhea. The defective gene is SLC39A4, which encodes a zinc transporter. Nevertheless many abnormalities in SLC39A4 have been relieved, only 50% of patients show alterations. Here is reported the case of an infant with mild and incomplete manifestations of AE, for whom the SLC39A4 genetic test was performed. A novel mutation in SLC39A4 was identified. Zinc replacement improved rapidly the skin lesions. Our case highlights the importance of suspecting this rare condition and to perform the genetic test even in those patients who do not fulfil the classical triad of symptoms. Further efforts should be addressed to identify a more strength correlation between genotype and phenotype of this disorder.

Patterns of aeroallergen sensitization predicting risk for asthma in preschool children with atopic dermatitis

Abstract Objective: Atopic dermatitis (AD) is a chronic inflammatory skin disorder mostly affecting young children. Although several studies aimed to identify the risk factors for asthma in AD children, many aspects still need to be clarified. The aim of this study was to investigate the possible risk factors for asthma at school age in 99 children with early-onset and IgE-mediated AD. Methods: All children performed clinical evaluation and total and specific IgE assay for a panel of inhalant and food allergens at two different times (t1 and t2) during preschool, and asthma diagnosis was assessed at one follow-up visit (t3) at school age. Results: At t3, 39% of children had developed asthma. Of the variables compared, the sensitization to more than one class of inhalant allergens at t2 (mean age = 30 months) was associated with asthma, with grass (OR = 3.24, p = 0.020) and cat sensitization (OR = 2.74, p = 0.043) as independent risk factors. Conclusions: The sensitization pattern of a child with early-onset AD, also within the first 2–3 years of life, can reflect his risk to develop asthma. Therefore, testing these children for the more common allergens during this time frame should be recommended to predict the evolution of atopic diseases.

An atypical pigmented lesion on the nose-Answer.

Below find the answer and discussion to the quiz by Savoia et al. presented in the previous issue of Dermatology Practical & Conceptual (http://dx.doi.org/10.5826/dpc.0401a12).

An atypical pigmented lesion of the nose.

A 56-year-old Caucasian woman, with skin phototype III, presented with an asymptomatic, slow-growing, gray-black plaque on her nose. The lesion had appeared almost 6 months prior, was 10 × 5 mm in size and presented with a paler, raised and scaly central area (Figure 1). This area could be hardly differentiated from ulceration, however, that was excluded on histology. Dermatoscopy with a non-contact polarizing dermatoscope revealed an unspecific pattern, structureless and asymmetric (Figure 2), characterized by blue-gray radial lines, disposed centrifugally at the periphery of a structureless scaly center, with some blood spots. Other dermatoscopic features were few peripheral ectatic linear vessels in the lower and less pigmented area, a few discrete blue-gray blotches and a pink-white halo around the lesion. No prior topical treatment was used before our consultation. The diagnoses proposed to the pathologist included basal cell carcinoma, adnexal tumor and melanoma, but the lesion was described as non-specific. Surgical excision was performed with 2 mm margins. Histopathologic examination revealed an aggregation of atypical epithelial cells in the dermis (Figure 3), severe solar eosinophilic elastosis, squamous eddy, atypical and necrotic epithelial squamous cells and pigmented deposits of melanin (Figure 4). An atypical pigmented lesion of the nose

Painful nodules on the soles in a 9-year-old boy

A 9-year-old child was referred to our paediatric dermatology unit for a temporary walking impairment because of painful lesions on the soles of both his feet. The lesions had erupted the day before, after prolonged walking with rubber boots. Physical examination showed multiple, reddish to purple, non-confluent, painful nodules on the soles of both feet (figure …