The oral manifestations of NF are well-documented but may not be at the forefront of the clinician's mind in the differential diagnosis of intra-oral swellings.

Isolated angiokeratomas are common benign cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse angiokeratomas should alert the physician to a possible diagnosis of Fabry disease, a rare X-linked lysosomal storage disorder, characterized by α-galactosidase deficiency. Glycosphingolipids accumulate in cells throughout the body resulting in progressive multi-organ failure. Difficulties are encountered when trying to interpret the significance of angiokeratomas because they may also occur in other lysosomal storage disorders and rarely in an isolated manner in Fabry disease. We present an algorithm for the classification of angiokeratomas which might prove useful for the diagnosis and management of Fabry disease. Assessment of the clinical features and location of the lesions, personal and family history, skin biopsy, dermoscopy and electron microscopy imaging are sequential steps in the diagnostic process. Assessing the deficiency of α-galactosidase enzyme activity is essential to confirm the diagnosis in males, while mutation analysis is always needed in females. Potentially this algorithm can change the current approach to patients when Fabry disease is suspected, thus improving the diagnostic strategy and management of this disorder. It remains to be decided whether the use of an algorithm might reduce the number of genetic consultations. As evidence has shown the efficacy of enzyme replacement therapy in halting progression of the disease before the onset of irreversible organ damage, it is advisable to aim at an early diagnosis in order to achieve timely initiation of effective treatment with benefits for patients and appropriate use of medical resources.

Plasma cell proliferations represent a heterogeneous spectrum of disorders. A 7-year-old Caucasian female had suffered an asymptomatic eruption on the trunk for 4 years. Physical examination revealed a plaque with scattered red-brown papules and nodules. Chemical analysis revealed normal proteinaemia. Histological examination of biopsy specimens showed dense perivascular and periadnexal infiltrate, consisting largely of plasma cells, in the superficial and deep dermis. Immunohistochemical study showed that many cells of the infiltrate were CD20 positive. The plasma cells expressed kappa and lambda light chains. The girl's status (age; absence of hypergammaglobulinaemia, lymphadenopathy and hepatosplenomegaly; presence of an infiltrate of mature polyclonal plasma cells restricted only to the skin) differed from those generally seen in diseases with plasma cell proliferation reported in the literature. This case seems unlike any other described up to the present time.

Our results demonstrate a higher efficacy and more rapid onset of action with the two-compound ointment compared with calcipotriol cream alone in short-term treatment. However, sequential application of calcipotriol allows maintenance of the results.

The global number of cases of cutaneous leishmaniasis in Sicily has increased in recent years, and such increases can be explained, in part, by the fact that, in this region, sandflies are present during a large part of the year. This is a result of the climatic variation in recent years (increasing temperature and humidity). There has also been an increase in the number of new and rare variants of cutaneous leishmaniasis. A knowledge of the unusual clinical variants of cutaneous leishmaniasis, as well as classical forms, allows early detection.