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Aim: Extramammary Paget's disease (EMPD) is a rare neoplastic pathology involving the vulva, scrotum, and perianal areas, and it is characterized by a slow and insidious course. EMPD may also be associated with internal malignancy, and its clinical presentation features long-standing pruritic lesions, eczema-like, refractory to any therapy. The pathogenesis is unclear, and univocal standardization of treatment is yet to be determined. As regard to the patients who suffer from it, women are more often affected than men. The therapeutic approach depends on the extent of involvement; wide surgical excision is the first choice among treatments, but other forms of therapy, alone or in combination, include imiquimod 5%, photodynamic therapy, Mohs surgery as well as external beam radiotherapy and Brachytherapy. In the present paper a new therapeutic alternative is proposed: Dermo-Beta-Brachytherapy (DBBT) with 188Re., Methods: Five patients with EMPD, one secondary and four primary cases, have been treated by Brachytherapy with DBBT. This therapy has been successfully used for non-melanocytic skin tumors and basically consists in the topical application of a specially designed, tailor-made mould containing a radioactive beta-emitting isotope, rhenium-188., Results: The patients healed completely, after one session in one case and after two sessions in four cases, with 34 months mean follow-up., Conclusion: Brachyterapy could represent a new alternative therapy, instead than invasive treatments as surgery and conventional radiotherapy, capable to treat EMPD independently of its extension, with aesthetic and functional satisfactory results.

Background: Squamous cell carcinoma of the penis (SCCP) is the most common penis neoplasia, favoured by phimosis, HPV infection and scleroatrophic lichen. The classic therapy is surgical with anatomic demolition, which often causes important psychological problems. Other non-demolitive therapies can be utilized, such as radiotherapy, brachytherapy and topical medical treatment., Objectives: We propose a new non-invasive therapy called "Dermo beta brachytherapy (DBBT) with 188-Re" in which a synthetic inert resin-matrix containing a radioactive beta-emitting isotope is applied on the surface of the tumor lesion., Materials and Methods: A total of 15 patients with a histologically confirmed diagnosis of SCCP were enrolled for treatment (DBBT)., Results: Of the 15 patients, 12 healed, 1 was lost at follow-up and 2 did not respond to therapy., Conclusion: The results indicate that DBBT is an effective treatment for SCC of the penis, sparing the anatomical integrity of the organ, and allowing normal sexual activity.

Griscelli syndrome (GS) is a rare autosomal recessive disease characterized by silvery hair ('partial albinism'). Three forms exist; GS type 2 (GS2), the most common one, is characterized by severe primary immunodeficiency with acute episodes of hemophagocytic lymphohistiocytosis (HLH) which may be fatal in the absence of hematopoietic stem cell transplantation. A 5-year-old boy with HLH was referred to us because of silvery-gray hair present since birth. Abnormal pigment clumps were observed in the medulla of hair shafts on light microscopy. Electron microscopy of a skin biopsy revealed melanosomes in melanocytes, but not in keratinocytes. Leukocytes were devoid of intracytoplasmic granules on blood smear. Neurological signs were absent. Genotyping revealed a homozygous haplotype for polymorphic markers linked to the RAB27A locus, but no RAB27A mutation. A diagnosis of GS2 was established. The patient received bone marrow transplantation (BMT) from an unrelated donor, and after 72 months he did not show relapse of HLH. The long, uneventful follow-up supports the use of BMT from an unrelated donor if transplantation from a relative is not possible., (Copyright 2009 S. Karger AG, Basel.)

Background: Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are among the most common cancers in humans. Various therapies are currently being used to treat these tumours including surgery, topical treatments and radiotherapy. We describe a new treatment for BCC and SCC. This consists of superficial radiotherapy, using synthetic resin containing a radioactive beta-emitting isotope. The resin is applied to the lesion to perform a selective beta-irradiation brachytherapy treatment., Methods: In total, 53 patients with histologically confirmed diagnosis of BCC and of SCC were enrolled for the treatment., Results: In all treated cases, an apparent clinical remission occurred in approximately 3 months, and complete healing was obtained in 100% of the treated patients; in 82% of the cases, this occurred after a single application. No disfiguring scars or any side-effects were seen. After a follow-up of 20-72 months (mean 51 months), no clinical relapses were observed in the treated patients. Histological examination confirmed complete tumour regression., Conclusion: The results indicated that brachytherapy is an effective treatment for BCC and SCC.

We report 2 elderly patients with facial lentigo maligna who experienced complete regression, both clinically and histopathologically, after once-daily topical treatment with tazarotene 0.1% gel for 6 to 8 months. After a follow-up period of 18 and 30 months, no recurrence was observed. We believe that tazarotene might be considered as an alternative medical approach in selected patients with lentigo maligna.

Pyoderma vegetans (PV) is a chronic, vegetating pustular disorder characterized clinically by erythematous vesiculopustular vegetating cutaneous plaques. Marked epidermal hyperplasia, intraepidermal and subepidermal neutrophilic microabscesses and a dermal inflammatory infiltrate are the prominent histopathological findings. We describe a patient with PV associated with ulcerative colitis and mammary Paget's disease. Pustular eruptions associated with ulcerative colitis are reviewed.

Gougerot-Carteaud syndrome or confluent and reticulated papillomatosis (CRP), was first described by Gougerot and Carteaud as dermatosis. It is generally considered a rare condition. The eruption consists confluent, flat, brown papules localized primarily to the intermammary and interscapular regions with subsequent spread to the breast and abdomen; at the periphery, the papules spread out forming a pigmented reticulated pattern. At present, the aetiology of CRP remains unknown. The two prominent theories are an abnormal host response to fungi and a keratinization defect. Other hypothesis include photosensitivity, genetic factor, amyloidosis cutis and endocrinopathy.

Pachydermoperiostosis is a rare osteo-cutaneous disease characterized by hypertrophy of bones and surrounding soft tissues. The cutaneous manifestations include coarsening of facial features, cutis verticis gyrata, digital clubbing, hyperhidrosis and seborrhoea. The pathogenetic mechanism of the disease is still debated, and proposed aetiological factors include genetic influences, anomalies in fibroblast activity, or alteration in peripheral blood flow. We studied a patient with the incomplete form of pachydermoperiostosis, assessing epidermal growth factor receptor (EGF-R) and sex hormone steroid receptors (SR) in the affected skin, and also evaluating the urinary excretion of EGF. The results showed high levels of nuclear steroid receptors, increased cytosolic oestrogen receptors, and no detectable progesterone and androgen cytosolic receptors. EGF-R was also undetectable, and the urinary excretion of EGF was elevated. These findings suggest that the increased tissue sensitivity to circulating sex-steroids could induce enhanced tissue EGF/transforming growth factor alpha (TGF-alpha) production and utilization. The SR-EGF-R system could therefore be involved in determining hypertrophy of the affected tissues.

The purpose of our study was to quantify the serum content of alpha 1-antitrypsin (alpha 1-AT) and polymorphonuclear leukocyte elastase (PMN-E) in of 21 patients affected by active and stationary psoriasis, and 12 normal controls. HLA typing was also performed to identify a correlation among HLA antigens, age at onset of psoriasis and biochemical results. alpha 1-AT levels were within the normal range in all patients, even in those with active, extensive, inherited and juvenile psoriasis, and in the controls. These data allow us to exclude, in our patients, the presence of rare or defective phenotypes, frequently associated with reduced serine levels of alpha 1-AT. The PMN-E serine content was greatly increased in 3 patients, increased in 2, and slightly modified in 6 cases. All patients with the highest PMN-E levels reported a positive family history and absence of pulmonary, hepatic and atopic diseases. An increased psoriatic inheritance has been observed in the CW6-positive subjects (7/20), comparing B13 and DR6 antigen frequency. No correlation among HLA antigens, age at onset, clinical phase, or biochemical results could be established.

Pachyonychia congenita syndrome (PCS) is a genetic disease with an autosomal dominant mode of transmission in which the main sign, pachyonychia, usually arises at birth or in childhood together with other disorders of keratinization. A 28-year-old woman developed subungual hyperkeratosis of all toe-nails and thumb-nails associated with pain on pressure and walking. She had a scrotal tongue with leucokeratotic areas, blister formation, plantar hyperkeratosis, palmoplantar hyperhidrosis and dental cavities since childhood. The present case, interpreted as PCS of late onset, could be a clinical variant of the Jadassohn-Lewandowsky syndrome with the late onset of pachyonychia or else an additional form of PCS due to the expression of a new and different allele.

We describe the use of gas chromatography with mass spectrometry (GC-MS) in the investigation of a case of allergic contact dermatitis of the lip margins caused by a lip liner. Patch testing identified sensitization to para-tertiary-butylphenol-formaldehyde resin (PTBP-FR), a resin glue frequently used in leather work but rarely found in cosmetics. Investigation specified the para-tertiary-butylphenol (PTBP) component of the resin as the hapten responsible for the allergic contact dermatitis, as well as for associated depigmentation.

The authors present the case of a patient affected by Lyell's Syndrome and Lymphoma that was revealed in the post-mortem examination. At onset the disease showed mucosal hyperaemia, oedema and erosions. In about ten days macular lesions with vesciculation and bullae appeared on the abdomen. General conditions did not seem to be affected. Three weeks later a fever was noted. No important illness, nor drug assumption were detectable in the history of the patient. At the beginning of the fourth week a dramatic worsening occurred with erythrodermic state and high fever. Death occurred at the sixth week in spite of therapy. Bacteriological and virological examinations were always negative. Post-mortem examination showed retroperitoneal and pelvic neoplastic tissue, involving lumboaortic lymph nodes. Histopathology demonstrated a low grade malignancy non Hodgkin Lymphoma, diffused type with small lymphocytes showing plasmocytic differentiation. The lack of drug intake or infectious disease in the history, underlines the peculiar association between the tumor and the syndrome. Rare cases of TEN associated with lymphoproliferative neoplasm are reported in the literature, and the pathogenetic problem of the syndrome is reviewed.

We describe two cases of pachydermoperiostosis, that, with the case that we have already published, allow us to present the complete clinical picture of the disease in the three forms: complete, incomplete and "forme fruste". It is interesting to note that the lack of an important symptom (digital clubbing or CVG) does not exclude the diagnosis but defines the clinical variant. The primitive hypertrophic osteoarthropathy is a common feature for the three patients, marked for I and III case, mild, but important from the diagnostic point of view, for the II case. The identification of a new marker of osteoblastic activity: osteocalcin blood level, is very important to determine the degree of activity of the disease. EM study, performed for the first time, shows an enhanced activity of the fibroblasts and a thickening of the basal membrane of the blood vessels. It is own opinion that the clinical picture observed, the vascular, the metabolic, the EM investigations give a further contribution to the understanding of this disease.