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Summary: Background: Naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental alterations and multiple basal cell carcinomas. Mutations in PTCH1, which encodes a membrane receptor for Sonic Hedgehog, are associated with the development of the disease. Most of them produce a truncated protein, which is unable to suppress Smoothened protein and continuously activates the downstream pathway. Objectives: We aimed to characterize 22 unrelated Spanish patients with NBCCS, the largest cohort with Gorlin syndrome reported to date in Spain. Methods: Genomic analysis of PTCH1 was performed in patients with NBCCS and controls, and mutations were analysed using bioinformatics tools. Results: We report for the first time two young patients, one each with uterus didelphys and ganglioneuroma, within the context of NBCCS. One patient showing a severe phenotype of the disease had developed basal cell carcinomas since childhood. Sanger sequencing of PTCH1 in this cohort identified 17 novel truncating mutations (11 frameshift, five nonsense and one mutation affecting an exon–intron splice site) and two novel missense mutations that were predicted to be pathogenic. The patients showed great clinical variability and inconsistent genotype–phenotype correlation, as seen in relatives carrying similar mutations. Conclusions: This study contributes to increase the pool of clinical manifestations of NBCCS, as well as increasing the number of pathogenic mutations identified in PTCH1 predisposing to the condition. The inconsistencies found between phenotype and genotype suggest the involvement of other modifying factors, genetic, epigenetic or environmental. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 44-year-old man who presented with a history of asymptomatic nodules on both ears for four years. It mentions that a nodular infiltrate composing of a small, round monomorphic lymphocytes was revealed by the incisional cutaneous biopsy. The examination of bone marrow has confirmed the diagnosis of B-cell chronic lymphocytic leukemia (B-CLL).

Background Photodynamic therapy (PDT) is an effective treatment for actinic keratoses, Bowen’s disease and basal cell carcinoma. The main drawback of PDT is pain during application. Objectives To compare the efficacy of supratrochlear and supraorbital nerve block with cold air analgesia to control the pain experienced during PDT. Methods A controlled open clinical trial was conducted in 34 patients having multiple actinic keratoses in the frontal region treated with PDT. On one side of the frontal region the supratrochlear and supraorbital nerves were blocked, while on the other side cold air was used as the method of analgesia. Pain was recorded on a visual analogue scale after treatment. Results Thirty-one of 34 patients reported less pain in the zone treated with nerve block. This difference was statistically significant. Conclusions Nerve block is superior to cold air and is an easy, safe, effective means of controlling the pain associated with PDT. [ABSTRACT FROM AUTHOR]

Some clinical, pathological and genetic features have been associated to familial melanoma, particularly multiple melanoma and earlier age at diagnosis. To compare the clinical, epidemiological and pathological differences between familial and sporadic melanoma patients in Valencia, Spain, a series of 959 patients with cutaneous melanoma were selected at a single institution. For this study the following variables were selected: age, sex, melanoma site and presence of solar lentigines on the melanoma surrounding skin, histological subtype, tumor thickness, stage, family and personal history of cutaneous melanoma and of other neoplasias, personal history of non-melanoma skin cancer, past personal history of severe sunburns, cutaneous phenotype (phototype, hair and eyes colors number of common nevus, number of atypical nevi, presence of solar lentigines). Forty-one (4.28%) familial and 918 sporadic melanoma were identified. Among the multiple variables studied, a younger age at diagnosis (median age of 42 vs 53 years), higher frequency of the presence of at least one clinically atypical nevus (36.1% vs 17.7%), multiple melanomas (12.2% vs 3.4%) and red/blonde hair (33.3% vs 18.9%), and a lower rate of cases with solar lentigines in melanoma site (33.3% vs 56.3%) were found for familial cases. Except for hair color and age, the other variables remained statistically significant after the multivariate study. Interestingly, no acral melanomas were found among the familial cases. In summary, phenotypic risk factors for familial melanoma are a tendency to develop multiple melanomas, to have clinically atypical nevi and to present less actinic damage at the melanoma site. All these results enhance the relevancy of genetic susceptibility associated to the ability to produce atypical nevi and partly to a higher sensitivity to the sun. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented which discusses the case of a 30-year-old male patient with atrophic dermatofibrosarcoma protuberans with fusion of the collagen type I α 1 gene with the platelet-derived growth factor beta-chain.

Background Location of the tumour is a well-known prognostic factor for recurrence of basal cell carcinoma (BCC). We have observed that tumours located in the nasolabial fold may deserve a particular attention. Objective The aim of this study is to evaluate the behaviour of BCC located on the nasolabial fold in comparison to a control group of patients with BCC in lower risk sites, and to detect characteristics which may imply a more complicated treatment or the consideration of adjuvant treatment. Methods A series of 24 patients with BCC located on the nasolabial fold were retrospectively recruited from our database of Mohs surgery from January 1997 to December 2000. A control group of 37 patients with BCC located on the cheek or forehead were selected from the same database. The differences between both groups in clinical, surgical and histological terms were evaluated. Results BCC on the nasolabial fold presented with shorter evolution time from first symptom, had a smaller size, had been less frequently treated before and showed mostly non-aggressive histologic subtype, but needed more surgical stages and more complex reconstruction. Conclusion We have observed that BCC on the nasolabial fold, despite presenting with better clinical and histological features, needed more complicated surgery. In our opinion, this location warrants a particular attention and further prospective studies should be made to corroborate our findings. [ABSTRACT FROM AUTHOR]

Videomicroscopy has been found to be useful in determining the depth of ectasia of vascular malformations. Different patterns that hypothetically could predict the response of a vascular malformation to pulsed dye laser have been described. Our purpose was to determine if the dermoscopy pattern was able to predict the response to pulsed dye laser therapy and if it was independent of other known clinical variables. Thirty-three consecutive children presenting for evaluation or treatment of vascular malformations underwent videomicroscopy previous to pulsed dye laser therapy. Sixty-nine representative areas were evaluated before and after laser therapy. Other clinical factors, including location of the malformation, the patient's age and sex, and previous therapy, were also included in the analysis. We found that the dermoscopy pattern was differently distributed depending on the anatomic area. A superficial pattern was not present in the centrofacial area. An undefined pattern was most often present when a previously treated area was imaged. A superficial pattern independently predicted a good response to laser. The location of the lesion was another independent factor influencing the outcome. A new pattern consisting of a pale circular area surrounding a central brownish dot is described as negatively influencing the response to laser therapy. We concluded that videomicroscopy is a good tool for assessing which vascular malformations can be adequately treated with laser therapy, although other anatomic factors can influence the response. Videomicroscopy is particularly helpful in deciding when to end the treatment because it objectively shows when no further response can be expected, and is helpful for demonstrating this to patients and their parents. [ABSTRACT FROM AUTHOR]

Xeroderma pigmentosum (XP) is an autosomal recessive disease in which patients have a 1000-fold increased risk of developing cutaneous neoplasms. Management of patients with XP is a difficult therapeutic challenge as they usually present with many cutaneous malignancies and continue to form skin tumours at a high rate. We describe a 19-year-old woman with XP who had been previously treated with many different therapeutic approaches. She had an excellent clinical response of her multiple small pigmented basal cell carcinomas and pigmentary changes using imiquimod 5% cream with only minor side-effects. [ABSTRACT FROM AUTHOR]

Background Cryotherapy is a physical procedure whose immunogenic capability enables it to destroy tumour cells, at least partially. Consequently, it can boost the effect of imiquimod. Objective The objective of the present study was to evaluate the efficacy of combining cryotherapy and imiquimod in patients who did not achieve a complete response after treatment of basal cell carcinoma with imiquimod. The study sample comprised 22 patients with 23 basal cell carcinomas. The tumours were treated with liquid nitrogen (one cycle, 20-30 s) before application of imiquimod (five times weekly for 6 weeks). Results A maintained complete clinical response was observed in 19 of the 23 tumours (83%), a partial response in three and no response in one. One tumour presented signs of persistence/recurrence during follow-up. Conclusions Cryotherapy applied to treat imiquimod-refractory basal cell carcinoma seems to sensitize the tumour to the effect of the drug, thus reducing the percentage of patients who need surgery after an incomplete response to imiquimod. Further studies are necessary to confirm these findings. [ABSTRACT FROM AUTHOR]

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Summary: Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin Syndrome, affects only 1 in 56 000 people. It is usually inherited from a parent with the condition and affects both males and females equally (autosomal dominant inheritance). People with NBCCS may show characteristic features such as extra fingers or toes, irregular ribs, an unusually shaped face and large head. Tumours sometimes develop, particularly jaw cysts and basal cell carcinomas (BCCs) of the skin from which the syndrome is named. NBCCS is caused by mistakes (mutations) in a gene called PTCH1 located on the long arm of chromosome 9. PTCH1 acts as a brake on a set of chemical processes in cells called the Hedgehog (HH)/GLI signalling pathway. In NBCCS, mutations inactivate PTCH1 allowing excessive Hedgehog signalling. This loss of control results in the abnormal bones and tumours. Within an affected family, people with the same genetic mutation can have very different abnormalities. This group from Spain studied 22 unrelated Spanish people with NBCCS to see if they could discern any relationship between specific clinical abnormalities and specific genetic mutations. BCCs were very common, occurring in 96% of patients with 43% having more than 50; 77% had jaw cysts. Two abnormalities had not previously been recognised in NBCCS: double uterus and a benign nerve tumour. They found 19 PTCH1 mutations that had not previously been reported. However, they could not find any pattern relating the type of mutation to the clinical abnormalities. Presumably other factors besides the PTCH1 mutation causes the clinical features. [ABSTRACT FROM AUTHOR]

Describes the treatment of chronic X-ray dermatitis with topical 5-aminolevulinic acid-photodymamic therapy. Disease overview; Clinical characteristics of patients; Treatment outcomes.

This article focuses on a study related to the occupational contact dermatitis from cyclohexanone as a PVC adhesive. Cyclohexanone is a liquid substance, soluble in water and in common organic solvents. In the present case a 35-year-old woman presented with a 2-month history of pruriginous dermatitis of the pulps and sides of first 3 digits of the right hand and first 2 digits of the left hand. Examination revealed skin lesions suggestive of dry fissured eczema, coincident with zones in contact with a cyclohexanone solution used by the patient at work.