Background: The most frequent skin features associated with myotonic dystrophy type 1 (DM1) are frontal alopecia and pilomatrixomas. Several reports suggest that the incidence of basal cell carcinoma is increased in DM1. However, two recently published studies examining this topic have contradictory results. Objective: To retrospectively study the incidence of cutaneous tumours in patients with DM1. Methods: The clinical features of 102 Caucasian patients diagnosed with DM1 at Bellvitge Hospital in Barcelona, Spain, were retrospectively analysed. Clinical charts of the patients were reviewed, and cutaneous tumours diagnosed in our hospital were recorded. A group of 103 Caucasian patients matched for age and sex were used as the control group. Results: A total of 56 male and 46 female patients with DM1 were included in the study (mean age 49.07 years, SD 13.02). At least 1 basal cell carcinoma was diagnosed in 6 patients in the DM1 group versus 3 patients in the control group (p = 0.332). The mean age at diagnosis of the first basal cell carcinoma was 51 years compared with 66 years in the control group (p = 0.035). Five patients with DM1 presented pilomatrixomas versus none in the control group (p = 0.029). We did not detect any melanoma in our DM1 patients. Conclusion: Basal cell carcinomas appeared at a significantly younger age in our DM1 patients than in the general population, and this suggests that, at least in some patients, DM1 may predispose to the development of basal cell carcinomas. (C) 2017 S. Karger AG, Basel

Cutaneous lesions in Whipple disease (WD) are infrequent, and the histological findings are usually nonspecific. Specific cutaneous lesions have rarely been described and usually involve the subcutaneous fat. We report a patient diagnosed with WD, who developed multiple small subcutaneous nodules after antibiotic treatment was administered. In addition to septal panniculitis, the cutaneous biopsy showed a mild granulomatous dermal reaction with PAS-positive macrophages characteristic of WD. A positive polymerase chain reaction in the cutaneous sample confirmed the presence of Tropheryma whipplei in the skin. Dermatopathologists should be aware that not only subcutaneous lesions but also dermal lesions may exhibit specific findings of WD.=20

OBJECTIVES: The objective of this study was to analyze the clinical features of a series of patients with orofacial granulomatosis (OFG).; STUDY DESIGN: Twenty patients diagnosed with OFG at Bellvitge Hospital (Barcelona, Spain) from 1985 to 2010 were included in the study.; RESULTS: All of our patients (9 men and 11 women, median age 48.1 years) presented with labial swelling. Six patients presented with recurrent orofacial swelling, 12 with permanent swelling, and 2 with progressive swelling. Fissured tongue was observed in 9 cases, and 2 patients presented with recurrent episodes of peripheral facial paralysis. The median follow-up time was 65.1 months, ranging from 4 to 300 months. None of our patients developed sarcoidosis or Crohn disease.; CONCLUSIONS: In the south of Europe, OFG does not appear to be as frequently associated with Crohn disease as in northern Europe. Although several treatments may achieve transient control of the orofacial swelling, there is no curative treatment for OFG and some patients may develop embarrassing lesions. Copyright A=C2=A9 2012 Elsevier Inc. All rights reserved.

The skin manifestations of sarcoidosis are classified as specific, where biopsy reveals non-caseating granulomas, and non-specific, typically erythema nodosum. The most frequent specific (granulomatous) skin lesions are maculopapules, subcutaneous nodules, scar sarcoidosis, plaques and lupus pernio. Skin biopsy allows early diagnosis of sarcoidosis through a non-aggressive procedure. In sarcoidosis, erythema nodosum is usually associated with bilateral hilar lymphadenopathy on the chest radiograph, this being known as Lofgren's syndrome. Cutaneous lesions have prognostic significance. Lofgren's syndrome is usually associated with good prognosis and spontaneous resolution. Maculopapular lesions and subcutaneous nodules are more often associated with remission of the systemic disease at two years, while plaques and, mainly, lupus pernio are hallmarks of chronic disease. Most cutaneous lesions of sarcoidosis are only mildly symptomatic and do not require treatment. However, chronic skin lesions, particularly lupus pernio, are disfiguring and can have a strong psychological and social impact. Treatment of these lesions is a challenge since they do not respond well to conventional treatments. The introduction of biological agents has been an important although not definitive advance in the treatment of cutaneous sarcoidosis. Copyright =C2=A9 2012 Elsevier Masson SAS. All rights reserved.

Subcutaneous sarcoidosis has been reported to occur in 1.4% to 6% of patients with systemic sarcoidosis. Most reported cases are in women, most often in their fifth and sixth decades, and appear as multiple, asymptomatic, hardly indurated subcutaneous nodules without changes in the overlying epidermis. The lesions are characteristically located in the upper extremities, mainly in the forearms, and usually are bilateral and asymmetric. In most cases the lesions appear at the beginning of systemic sarcoidosis and are not associated with chronic fibrotic disease. Histopathologically, sarcoidosis is characterized by noncaseating naked granulomas involving fat lobules, with minimal to no septal involvement.

Background: Cutaneous infiltration by cancer has been reported to occur in 0.7% to 9% of all patients with malignant neoplasms and is usually considered a late event in the evolution of most visceral carcinomas. Objective: To analyze the clinicopathological features of cutaneous infiltration by cancer. Methods: All biopsy specimens codified as cutaneous infiltration by cancer between 1988 and 2005 were retrieved. Patients with hematologic malignancies were excluded. The clinical charts of the patients were reviewed to obtain additional information. Results: In all, 381 patients (136 male and 245 female) were included in the Study. The most frequent primary tumors were breast carcinoma (168 cases), malignant melanoma (59 cases), mucosal carcinoma of the head and neck (34 cases), lung carcinoma (25 cases), and large intestine carcinoma (22 cases). The most frequent clinical presentations were solitary nodule in 153 cases, multiple nodules in 82 cases, and infiltration of surgical scars in 50 cases. In 128 patients (33.6%) the cutaneous infiltrative lesions were present at diagnosis of the primary tumor. The number of yearly specimens of infiltration by breast carcinoma increased significantly from the first half to the second half of the period under examination. Limitations: This is an observational retrospective study. Conclusions: With the possibility of determining prognostic factors by analyzing tissue samples from malignant tumors, the role of cutaneous biopsy is expected to become increasingly important in the management of oncology patients, as is already the case with breast carcinoma.

It has been suggested that the predilection of sarcoidosis to affect scars is due to the presence of antigens or foreign bodies that can serve as a stimulus for granuloma formation. Several patients with sarcoidosis-specific skin lesions in venous puncture sites have been reported. However, in these patients the pathogenesis of the cutaneous lesions is not clear because the presence of foreign bodies is not to be expected. Our objective was to describe 3 patients who developed specific lesions of sarcoidosis in areas of venipuncture and to discuss their possible pathogenesis. The database of the Sarcoid Clinic of Bellvitge Hospital (an 800-bed university referral center providing tertiary care to approximately 1 million people in Barcelona, Spain) was reviewed to detect those patients with specific cutaneous lesions of systemic sarcoidosis in areas of venipuncture. Three patients with biopsy-proven specific cutaneous lesions of systemic sarcoidosis in areas of venipuncture for blood collection were detected (3 women, mean age 56 years). In one case, the histopathological image shows the hypothetical path of a needle through the skin. In 2 cases, an amorphous birefringent material was detected under polarized light. This material was consistent with silicone. In patients who are developing sarcoidosis, the smallest amount of oil used as lubricant in the needle for sample blood collection may induce the formation of granulomas. In addition to exploring scars, it is advisable to explore the cubital folds to detect specific cutaneous lesions of sarcoidosis.

Objective: To determine whether Mycobacterium tuberculosis ribosomal RNA (rRNA) is present in fresh tissue specimens from patients with sarcoidosis. Design: A prospective study. Setting: A university-based hospital. Patients: Thirty-five patients diagnosed as having sarcoidosis at the University Hospital of Bellvitge, Barcelona, Spain, were included in the study. Fresh tissue samples with granulomatous inflammation were prospectively collected between 1997 and 2001 from all patients. For each sample tested, approximately 1 negative control was included. Main Outcome Measures: Mycobacterium tuberculosis rRNA was detected using an isothermal enzymatic amplification system of target rRNA of M tuberculosis complex via DNA intermediates. Smears for acid-fast staining and mycobacteriological cultures were also obtained. Results: A total of 78 biopsy specimens (57 skin. 10 lymph node, 3 lacrimal gland. 2 spleen. 2 lung. 2 muscle. 1 bone, and 1 nerve) collected from 74 patients (35 patients with sarcoidosis and 39 control patients) were included in the study. Stains for acid-fast bacilli and mycobacterial cultures were negative for organisms in all cases. Mycobacterium tuberculosis rRNA was not detected in the specimens from any patients with sarcoidosis or in those from control patients whose cultures were negative for organisms. Ribosomal RNA was detected in 6 tissue specimens from patients with cultures that were positive for M tuberculosis and that were processed in parallel to the samples included in the-study. Conclusions: Although previous studies have reported that mycobacterial antigens may play a role in granuloma formation in some patients with sarcoidosis, our results suggest that M tuberculosis cannot be considered to be the etiologic agent of the disease.