117 research outputs found

    Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma

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    Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even within the same family. Some people have very mild skin changes, whereas others suffer severe medical complications. The condition usually appears in childhood and is diagnosed if two of the following are present: six or more café-au-lait patches larger than 1.5 cm in diameter, axillary or groin freckling, 2 or more Lisch nodules (small pigmented areas in the iris of the eye), 2 or more neurofibromas, optic pathway gliomas, bone dysplasia, and a first-degree family relative with Neurofibromatosis type 1. The pattern of inheritance is autosomal dominant, however, half of all NF1 cases are 'sporadic' and there is no family history. Neurofibromatosis type 1 is an extremely variable condition whose morbidity and mortality is largely dictated by the occurrence of the many complications that may involve any of the body systems. We describe a family affected by NF1 in whom genetic molecular analysis identified the same mutation in the son and father. Routine MRI showed pontine focal lesions in the eight-year-old son, though not in the father. We performed a four years follow-up study and at follow-up pontine hamartoma size remained unchanged in the son, and the father showed still no brain lesions, confirming thus an intra-familial phenotype variability

    The relationship among the health-related quality of life, illness severity, personality and psychiatric symptoms in patients with psoriasis: an empirical investigation

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    Background: Psoriasis is a complex and chronic inflammatory skin disorder. The mechanisms underlying this immune-mediated disease are not clear, but some evidence indicates that specific personality features and symptom patterns may play an important role in the development and clinical presentation of the disorder and influence the quality of patients’ lives. This study aimed at evaluating the associations among the quality of life, illness severity, psychiatric symptoms and personality patterns in patients with psoriasis treated with biological or topical therapy. Methods: Fifty psoriatic patients were evaluated with self-report measures: the Symptom Checklist-90-R (SCL-90R) and the Psoriasis Index of Quality of Life (PSORIQoL). Their personality and psychological functioning were assessed by external raters using the Shedler-Westen Assessment Procedure (SWAP-200) applied to the Clinical Diagnostic Interviews (CDI). Finally, the severity and the area of psoriatic lesions were evaluated by dermatologists with the Psoriasis Area Severity Index (PASI). Results: Significant differences between the groups (biological vs topical therapy) were found in PASI scores: patients assigned to biological therapy showed lower levels of illness severity. No differences were found in PSORIQoL scores. The quality of life was negatively associated with various dimensions of SCL-90R and with borderline (r = .39; p< .01), dependent (r = .41; p< .01) and avoidant (r = .35; p< .05) personality styles/disorders; conversely, it did not relate to PASI. Conclusions: The results seem to suggest that the quality of life in psoriatic patients is more influenced by personality characteristics and psychiatric symptoms than by the severity of psoriatic lesions

    Seborrheic keratoses mimicking melanoma unveiled by in vivo reflectance confocal microscopy

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    Background: Seborrheic keratoses (SebK) with atypical dermoscopy presentation are increasingly reported. These lesions do not exhibit typical dermoscopy features of SebK and sometimes mimic melanoma, thus complicating the differential diagnosis. Reflectance confocal microscopy (RCM) is a non-invasive tool, which allows an in vivo imaging of the skin. Objective: To evaluate the agreement between RCM classification and histological diagnoses, and the reliability of well-known RCM criteria for SebK in the identification of SebK with atypical dermoscopy presentation. Methodology: We retrospectively analysed at RCM excised lesions presenting in dermoscopy 651 score at revisited 7-point checklist. The study population consisted of cases showing no melanocytic RCM findings. Lesions were investigated for distinct non-melanocytic RCM features, blinded from histopathology diagnoses. Histopathology matching was then performed before statistical analysis. Results: The study consisted of 117 cases, classified at RCM as SebK (71 cases), dermatofibroma (DF; 18 cases), basal cell carcinoma (BCC; 13 cases), squamous cell carcinoma (SCC; 2 cases), and \u201cnon specific\u201d (13 cases). Overall K strength of agreement at histopathology matching proved 0.76. Of the 71 cases classified at RCM with SebK, agreement was achieved in 97%. Conclusions: RCM classification proved high agreement with histopathology for SebK with atypical dermoscopy presentations, allowing an early differential diagnosis. RCM features in this group of lesions were similar to those described for typical cases of SebK, and may assist clinician therapy decision making, whilst avoiding unnecessary excisions

    Vitiligo and autoimmune thyroid disorders

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    Vitiligo represents the most common cause of acquired skin, hair and oral depigmentation, affecting 0.5-1% of the population worldwide. It is clinically characterized by the appearance of disfiguring circumscribed skin macules following melanocyte destruction by autoreactive cytotoxic T lymphocytes. Patients affected by vitiligo usually show a poorer quality of life and are more likely to suffer from depressive symptoms, particularly evident in dark-skinned individuals. Although vitiligo is a non-fatal disease, exposure of affected skin to UV light increases the chance of skin irritation and predisposes to skin cancer. In addition, vitiligo has been associated to other rare systemic disorders due to presence of melanocytes in other body districts, such as in the eyes, auditory, nervous and cardiac tissues, where melanocytes are thought to have roles different from that played in the skin. Several pathogenetic models have been proposed to explain vitiligo onset and progression, but clinical and experimental findings point mainly to the autoimmune hypothesis as the most qualified one. In this context, it is of relevance the strong association of vitiligo with other autoimmune diseases, in particular with autoimmune thyroid disorders, such as Hashimoto thyroiditis and Graves’ disease. In this review, after a brief overview of vitiligo and its pathogenesis, we will describe the clinical association between vitiligo and autoimmune thyroid disorders and discuss the possible underlying molecular mechanism(s)

    Presentazione dermoscopica atipica di lesioni non melanocitarie benigne: quale aiuto dal confocale?

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    Sono sempre più frequenti i report di lesioni cutanee benigne che simulano clinicamente il melanoma; in questi casi spesso mancano i criteri clinico-dermoscopici tipici. Abbiamo analizzato retrospettivamente in microscopia laser confocale (RCM) lesioni che presentassero in dermoscopia punteggio ≥1 alla revisited 7-point checklist, focalizzandoci su quelle prive di criteri melanocitari. Ogni caso è stato indagato quindi per la presenza di caratteristiche RCM non melanocitarie. La selezione ha permesso di raccogliere 117 lesioni a presentazione dermoscopica atipica, classificate al confocale come benigne (71 cheratosi seborroiche e 18 dermatofibromi), maligne (13 basaliomi e 2 spinaliomi), e “non specifiche” (13). Il valore K relativo al matching complessivo con l’istologia è risultato elevato (0.76); per cheratosi seborroiche e dermatofibromi la concordanza è risultata del 97% e 89% rispettivamente. I risultati ottenuti su un gruppo di lesioni di difficile inquadramento clinico, confermano l’utilità del confocale nella diagnosi differenziale non invasiva tra patologie benigne e maligne

    TSH Receptor and Thyroid-Specific Gene Expression in Human Skin

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    Experimental evidence suggests that in autoimmune thyroid diseases (AITDs) the skin is a target of autoantibodies against thyroid-specific antigens; however, the role of these autoantibodies in skin alterations remains unclear. To gain insight into the function of nominally thyroid-specific genes in skin, we analyzed the expression of thyroid-stimulating hormone–receptor (TSH-R), thyroglobulin (Tg), sodium iodide symporter (NIS), and thyroperoxidase (TPO) genes in normal human skin biopsies and cultured primary keratinocytes and dermal fibroblasts. The results revealed the presence of all the transcripts in skin biopsies. However, in keratinocytes and fibroblasts, only TSH-R messenger RNA was always detected. Western blot and immunohistochemical analyses of skin specimens confirmed the presence of TSH-R protein in keratinocytes and fibroblasts. Moreover, TSH treatment induced the proliferation of cultured keratinocytes and fibroblasts and increased keratinocyte intracellular cAMP. Finally, affinity-purified IgGs from serum of patients affected by Graves’ disease, but not by chronic lymphocytic thyroiditis, stimulated cAMP accumulation in cultured keratinocytes, as well as their proliferation. In conclusion, the expression of thyroid-specific genes in cultured keratinocytes and fibroblasts and the mitogenic effects of TSH and IgGs on these cells support the concept that autoantibodies against thyroid-specific antigens may contribute to cutaneous symptoms in AITDs.JID JOURNAL CLUB ARTICLE: For questions, answers, and open discussion about this article, please go to http://network.nature.com/group/jidclu
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