Vincenzo Maione

FokI Polymorphism in the Vitamin D Receptor Gene (VDR) and Its Association with Lumbar Spine Pathologies in the Italian Population: A Case-Control Study

Alterations in vitamin D homeostasis, mainly involving its nuclear receptor (VDR), could have a role in the pathophysiology of the spine. The association between VDR polymorphisms and spine disorders has been analyzed in different ethnic groups, focusing on the functional FokI polymorphism. However, so far, inconsistent findings were reported. The aims of this study were to evaluate, in the Italian white population, the VDR FokI polymorphism frequencies distribution in subjects with clearly defined lumbar spinal pathologies compared to asymptomatic controls and to analyze the interplay of genetic and conventional risk factors. Using a case-control design, 267 patients with spinal disorders and 220 asymptomatic controls were enrolled, evaluating their exposition to putative risk factors. Patients’ clinical assessment was performed by Magnetic Resonance Imaging. FokI polymorphism (rs2228570) was detected by PCR-RFLP. Genotypes were designated by a lowercase letter (f allele, T nucleotide) for the presence of the restriction site and by a capital letter (F allele, C nucleotide) for its absence. Family history, higher age and BMI, exposure to vibration, physical job demand, smoking habit and lower practice of leisure physical activity were associated with spinal disorders. The FF genotype and F allele represented approximately 2-fold risk factors to develop discopathies and/or osteochondrosis concomitant with disc herniation, while f allele was protective. In conclusion, the link we observed between VDR FokI variants and specific lumbar spine pathologies suggests that spinal tissue degeneration is influenced by the genetic background. Future studies should evaluate the signaling pathways involving alterations in VDR and influencing the development and/or progression of spine disorders.

Gender Differences in the VDR-FokI Polymorphism and Conventional Non-Genetic Risk Factors in Association with Lumbar Spine Pathologies in an Italian Case-Control Study

Recently, the FokI polymorphism (rs2228570) in the vitamin D receptor gene (VDR) and conventional risk factors were associated with spine disorders in the Italian population, but without gender analysis. Two-hundred and sixty-seven patients (149 males, 118 females) with lumbar spine disorders were assessed by magnetic resonance imaging (MRI) and 254 (127 males, 127 females) asymptomatic controls were enrolled. The exposure to putative risk factors was evaluated and FokI polymorphism was detected by PCR-restriction fragment length polymorphism (PCR-RFLP). An association between lumbar spine pathologies and higher than average age; overweight; family history; lower leisure physical activity; smoking habit; higher number of hours/day exposure to vibration and more sedentary or intense physical job demand was observed in male patients. In contrast, in females, only higher age, overweight, family history and lower leisure physical activity were risk factors. FF genotype was a 2-fold risk factor to develop discopathies and/or osteochondrosis concomitant with disc herniation for both gender patients, while heterozygous Ff was protective for females only. In males only ff genotype was protective for discopathies and/or osteochondrosis and F allele was a 2-fold risk factor for hernia; discopathies; discopathies and/or osteochondrosis. Sex-related differences in voluntary behaviors, exposure to environmental risks and genetic background could be crucial for a gender-differentiated management of patients with spine disorders.

Videocapillaroscopic findings in the microcirculation of the psoriatic plaque during etanercept therapy.

Vascular endothelial growth factor (VEGF) is a pivotal cytokine in the pathogenesis of psoriasis, and upregulation of VEGF by tumour necrosis factor (TNF)‐α and inflammatory factors causes marked alterations in the cutaneous microcirculation. Etanercept is a fully soluble TNF receptor fusion protein that primarily binds soluble TNF‐α, thus blocking its pro‐angiogenic function.

Dermoscopy: a useful auxiliary tool in the diagnosis of type 1 segmental Darier's disease.

Type 1 segmental Darier’s disease is a blaschkolinear variant of Darier’s disease resulting from a postzygotic mosaicism. Since it usually lacks diagnostic clues typical of the generalized form, including positive family history of the disease, nail and mucosal abnormalities, and/or acral involvement, its distinction from other acquired inflammatory blaschkolinear dermatoses may often be quite challenging, thus requiring histopathological examination to reach a definitive diagnosis. We report a case of type 1 segmental Darier’s disease with its dermoscopic findings in order to show the usefulness of dermoscopy in assisting the noninvasive identification of this condition.

Usual-type vulvar intraepithelial neoplasia: report of a case and its dermoscopic features.

agreement of dermatologic diseases between referral pediatricians and a pediatric dermatologist in El Salvador. Many causes likely contribute to this variation. However, we submit that a major cause is the lack of training opportunities for pediatricians and pediatric residents concerning skin conditions. Less than two-thirds of pediatric residency programs in the United States offer pediatric dermatology electives, and such electives are non-existent in El Salvador. Our results offer evidence for the need to update pediatric residency programs and continuing education programs for pediatricians. We recommend adjusting training hours, including those apportioned for the study of dermatological diseases, to address the real needs of current and future pediatricians. Our conclusions may be useful for academic pediatric educators globally as they consider how best to prepare practicing pediatricians.

Multiple enchondromas and skin angiomas: Maffucci syndrome

A 52-year-old man presented to our dermatology clinic for evaluation of several bluish nodules of the right hand and wrist (fi gure) that had gradually increased in number over the previous 31 years. The lesions were asymptomatic but had been causing the patient embarrassment and had started aff ecting his social interactions. No one in his family had a history of similar lesions. During adolescence he had had surgical excision of several painful enchondromas involving the proximal phalanx of the right fi fth fi nger and three chondrosarcomas of the metacarpo-phalangeal joints of the right hand, but at the time he had no evidence of cutaneous lesions and therefore had been diagnosed as having Ollier disease (enchondromatosis). On examination he had several hard, painless, compressible, angiomatous, subcutaneous nodules on the fi ngers of the right hand, consistent with a diagnosis of enchondromas, which was confi rmed on radiography (fi gure). Histology of one of the skin lesions showed typical features of cavernous haemangioma—ie, large blood-fi lled spaces lined by tumour endothelial cells separated by fi brous tissue. Human herpesvirus type 8 and D2-40 immunohistochemical stains were negative. On the basis of clinical and histological fi ndings we made a diagnosis of Maff ucci syndrome. We referred the patient to our plastic surgery department for excision of the largest angiomas, and he has follow-up every 6 months to assess new or changing lesions and check for possible chondrosarcomas. Maff ucci syndrome is a rare, sporadic genodermatosis aff ecting both males and females, which is associated with postzygotic somatic mutations in isocitrate dehydrogenase 1 and 2 genes. Although cases of late-onset Maff ucci syndrome have been reported, it usually manifests around age 4–5 years, aff ecting the hands or feet in a unilateral or asymmetrical fashion. Clinically, it is characterised by the combination of benign enlargements of cartilage (enchondromas) and multiple angiomatous skin lesions— usually cavernous haemangiomas, but patients can also present with lymphangiomas and spindle cell haemangioendotheliomas. Treatment is usually necessary only for aesthetic or functional problems. Surgery is the most common therapeutic approach for both cartilaginous and cutaneous lesions. Possible complications include spontaneous fractures, malignant transformation of angiomatous lesions, and sarcomatous degeneration of enchondromas—with a lifetime risk of about 100%. Prompt identifi cation of Maff ucci syndrome can help to identify and treat possible chondrosarcomas in a timely fashion. The principal diff erential diagnoses are KlippelTrenaunay syndrome, Kaposi sarcoma, glomuvenous malformations, Proteus syndrome, blue rubber bleb naevus syndrome, and Ollier disease, which is frequently confused with Maff ucci syndrome. Ollier disease does not present with angiomatous lesions but only enchondromas, which have a much lower risk of malignant transformation (about 25% of cases) compared with patients who have Maff ucci syndrome.

Gelbe Plaques in der Ellenbeuge

Ein 28-jähriger Kaukasier mit einer Vorgeschichte von Hautläsionen in der Ellenbeuge, die seit zwei Jahren bestanden, wurde an unsere Klinik überwiesen. Die Läsionen juckten; im Winter verbesserte sich ihr Zustand ohne Behandlung minimal. Bei der körperlichen Untersuchung wurden bräunliche, leicht hyperkeratotische Papeln gefunden, die sich zu Plaques mit netzförmigem Muster in den Randbereichen verbanden (Abbildung 1). In der Familienanamnese lag keine ähnliche Hautkrankheit vor. Eine Kaliumhydroxid-Untersuchung und eine Untersuchung mit der Wood-Lampe waren negativ. Hämatologische und biochemische Routineuntersuchungen ergaben keine Anomalien. Anhand der Gelbe Plaques in der Ellenbeuge Yellow plaques in antecubital fossae Diagnosequiz

Yellow plaques in antecubital fossae

A 28-year-old Caucasian man was referred to our clinic for a two-year history of skin lesions on antecubital fossae. The lesions were pruritic and improved minimally in winter, without treatment. On physical examination, brownish slightly hyperkeratotic papules coalesced to form plaques with a reticular pattern in periphery (Figure 1 ). No similar skin dermatosis was reported from his family history. Potassium hydroxide and Woods lamp examinations were negative. Routine hematological and biochemical investigations showed no abnormalities. A skin biopsy from a lesion revealed Yellow plaques in antecubital fossae Case for Diagnosis

Pigmented Bowen's disease presenting with a "starburst" pattern.

Pigmented Bowen’s disease (pBD) is an uncommon in situ squamous cell carcinoma of the skin usually presenting as a dark scaly plaque involving chronically exposed sites, which is not uncommonly mistaken for other similar pigmented lesions, such as melanoma, pigmented basal cell carcinoma or seborrheic keratosis [1,2]. Dermoscopy has been proven to improve its diagnosis by showing several findings, i.e., gray/brownish dots in linear arrangement, scales, coiled vessels, focal/multifocal amorphous hypopigmentation and bluish structureless areas [1,2]. However, pBD may sometimes display dermoscopic features which are typical of other pigmented lesions, thus making its recognition quite troublesome despite the use of dermoscopy [1,2]. We report a case of pBD with a “starburst” pattern, discussing its dermoscopic differential diagnosis.

Keratotic papules of palms and soles

A 40-year-old white Caucasian woman presented with a 20-year history of asymptomatic lesions on palmoplantar regions. Physical examination revealed numerous keratotic papules with crateriform holes on the palms (Figure 1) and yellow pits over the areas of soles exposed to pressure (Figure 2). Her father reported the same skin signs but he was less severely affected. The patient displayed no systemic symptoms and chest x-ray and routine laboratory testing showed no alteration. No arsenic exposure was reported. Skin biopsy obtained from a lesion revealed marked orthokeratotic hyperkeratosis with hypergranulosis (Figure 3).