Sitosterol xanthomatosis.

BACKGROUND: Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis. OBJECTIVE: To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease. METHODS: We report the case of a 60-year-old woman who presented with cutaneous xanthomas, arterial hypertension and polyarthralgias. The patient had had hypercholesterolaemia for many years without reduction of serum cholesterol, despite treatment with fenofibrate. RESULTS: Ezetimibe therapy was started, decreasing sitosterol plasmatic levels and tuberous xanthomas after 3 months of treatment. CONCLUSION: It is important to detect levels of sitosterol in plasma in patients with premature vascular disease, presence of xanthomas, and uncontrolled hypercholesterolaemia. Ezetimibe therapy is effective.

Has mortality from malignant melanoma stopped rising in Spain? Analysis of trends between 1975 and 2001.

BACKGROUND: There have been suggestions that mortality from cutaneous malignant melanoma (CMM) is starting to level off in the European Union. OBJECTIVES: To analyse changes in CMM mortality trends in Spain during 1975-2001 using joinpoint regression models. METHODS: Mortality data were obtained from the National Statistics Institute. For each gender, age group-specific and standardized (overall and truncated) rates were calculated by the direct method (using the world standard population). The joinpoint analysis was used to identify the best-fitting points where a statistically significant change in the trend occurred. RESULTS: In women, there was a marked increase from 1975 to 1994 in age-adjusted (overall and truncated) CMM mortality rates [estimated annual percentage change (EAPC) 6.6% and 7.0%, respectively; P < 0.05], followed by a levelling off (EAPC - 0.3% and - 1.3%, respectively; not significant). In men, age-adjusted (35-64 years) mortality rates increased steadily from 1975 to 1991 (EAPC 9.1%, P < 0.05) and then levelled off. CONCLUSIONS: We confirmed that CMM mortality rates in Spain rose dramatically from the mid-1970s to the beginning of the 1990s, but we also found that mortality rates are now levelling off in middle-aged adults (35-64 years), following a similar tendency to that observed in other countries.

Common ancestral origin of pemphigus vulgaris in Jews and Spaniards: a study using microsatellite markers.

Pemphigus is a group of autoimmune blistering diseases of the skin and mucous membranes. The association of pemphigus with human leukocyte antigen (HLA) is widely accepted. It was described in many ethnic groups and in most countries of the world. Studies showed that the associated HLA haplotype in Jewish pemphigus vulgaris (PV) patients is HLA-B38, DRB1*0402, and DQB1*0302; or HLA-B35, DRB1*0402, and DQB1*0302. Similar associations with class II genes were found in Spanish non-Jewish PV patients. As Jews lived in Spain for hundreds of years and many converted to Christianity, the presence of the same HLA haplotype in the Jewish and Spanish PV suggests that they may share the same founder. Microsatellite markers which span the entire major histocompatibility complex (MHC) locus were used as genetic probes. They were utilized to dissect the MHC region in the search for possible common haplotypes, besides HLA, which may provide an answer to this question. It was found that in both cohorts, in addition to HLA class II genes, there are probably genes in the class I region which are associated with PV. Alleles belonging to the associated markers were used to construct haplotypes and to estimate genetic distances. The distance between the two PV cohorts is relatively short, but the distance between the Jewish patients and the Jewish controls is greater compared to the distance between Spanish patients and Spanish controls. In both PV populations, the same microsatellite haplotypes in addition to a common class II haplotype were found, suggesting that both patient populations originated from the same genetic stock and, therefore, share the same ancestral disease gene.

Distribution of HLA class II alleles among Spanish patients with pemphigus vulgaris.

Twenty-six unrelated Spanish Caucasian individuals affected by pemphigus vulgaris (PV) were HLA typed and frequencies compared with those of 200 ethnically matched healthy controls. Twenty-three out of 26 patients were HLA-DR4. The frequency of HLA-DR14 was also increased (31%; controls: 4%). Of the 23 patients positive for HLA-DR4, 21 carried the DRB1*0402 allele. Therefore, the frequency of HLA-DRB1*0402 among patients was 81% (4% in controls; P=4.7x10(-27), OR=100.8). Interestingly, HLA-DR13, a frequent HLA-DR specificity in the Spanish general population (27%), was absent among the PV patients (P=0.009; Pc=0.1; OR=0.05). Taking together these data, we can conclude that, in the Spanish population, PV is preferentially and strongly associated with HLA-DRB1*0402, whereas DRB1*13 seems to confer a protective effect in our population.

Conradi-Hünermann syndrome with unilateral distribution.

Conradi-Hünermann syndrome is a type of chondrodysplasia punctata characterized by skeletal, cutaneous, and ocular anomalies. Genetic heterogeneity and incomplete penetrance may explain the wide clinical spectrum. We report a 7-day-old girl, product of a preterm pregnancy and delivery, with ichthyosiform erythroderma on the right half of the body at birth, as well as patchy cutaneous involvement of the contralateral side. On physical examination, we observed an ipsilateral shortening of the leg and a lenticular opacity of the right eye. Histopathologic study showed parakeratotic hyperkeratosis with prominent follicular involvement and atrophy of the granular and spinous layers. The skin eruption disappeared during the first 2 months. At 2 months of age, radiologic examination revealed stippled calcifications in the ribs, vertebral, and paravertebral areas. The most important differential diagnosis was CHILD syndrome. We emphasize the importance of the histopathologic study in the differential diagnosis of both syndromes.

Cryosurgical treatment of professional chronic radiodermatitis.

BACKGROUND: Chronic x-ray dermatitis in professionals is a frequent problem for doctors in our country due to the fact that many of them widely used radiotherapy without any protection 15-20 years ago. Surgery has been the most accepted treatment, though it generally decreases hand function. OBJECTIVE: Up to now, cryosurgery was not usually considered as a possible treatment if the lesions were located on fingers. In this study, the advantages of cryosurgery for the treatment of professional chronic radiodermatitis with incipient pretumoral lesions are emphasized. METHODS: Cryosurgery was performed on six patients affected with chronic professional radiodermatitis that showed keratomas and ulcerations, using both spray (keratomas) and a probe 0.5 cm in diameter (ulcerations, in situ squamous cell carcinoma). Nerve block anesthesia with mepivacaine 1% was used in all cases. Before the treatment, all suspected lesions were biopsied; if invasive squamous cell carcinoma was revealed in the dermatopathological study, the patient was rejected. Variables such as blister and necrosis formation, pain, and achromatic, sensibility, and mobility disorders were studied. The follow-up period was 2 years. RESULTS: Immediate postoperative results showed great pain and blistering in all cases. Residual achromias were observed early postoperatively in all cases, but were repigmented 1 year after therapy in four cases (66%). Sensory alterations (hypo- and hyperthesias) were found in four cases (66%) 1 month after treatment, although this complication was not observed 6 months after treatment. Finger mobility was perfect in all cases 2 months after treatment, and there was no recurrence in any case after 2 years of follow-up. CONCLUSIONS: We believe cryosurgery must be considered as an excellent treatment for professional chronic radiodermatitis with keratomas, ulcerations, and incipient squamous cell carcinomas. Its use may prevent further dramatic surgical treatment, like amputations, allowing the preservation of finger function.

Cutaneous sarcoid granulomas with oat cell carcinoma of the lung.

A case of a 68-year-old male is presented, with a history of asymptomatic slight scaling, infiltrated patches with an atrophic central portion, of 3 months of evolution on the face and trunk. A chest X-ray showed an oat cell lung carcinoma, with the same evolution time as the cutaneous lesions. Several cutaneous biopsies showed typical sarcoid granulomas, with profuse giant cells. An immunohistochemical study showed B-cell-positive granulomas. The patient was treated with cytostatic drugs and prednisone, leading to cutaneous, radiological and clinical complete regression of the lesions. We think that this case corresponds to a tumor-related cutaneous sarcoid granuloma reaction.

Tuberculous chancre in the partner of an intravenous drug abuser.

We report a 26-year-old housemaid whose partner was an intravenous drug abuser with undiagnosed pulmonary tuberculosis. The patient presented with a painless chin ulcer with an elevated irregular border and a firm, nontender submandibular adenopathy. The lesion had been present for 2 months and did not respond to antibiotic therapy. The tuberculin test was positive, and a biopsy and Löwenstein culture confirmed the diagnosis of cutaneous chancre. The patient was treated with rifampicin, isoniazid and pyrazinamide and, after 6 months of treatment, she developed scrofuloderma which had to be surgically removed. After 1 year of follow-up, the lesions had totally cleared.

Epidermotropic metastasis coexisting with multiple primary cutaneous malignant melanomas.

A 45-year-old male, with a history of malignant melanoma on the thorax excised 4 years ago, presented a sudden eruption of more than 300 pigmented lesions. Fifteen excisions of tumors in different stages were carried out on four different dates. Dermatopathological examinations revealed features of primary as well as metastatic malignant melanomas. We suggest that besides the extensive dissemination there was also an activation of the resting melanocytes, that led to the formation of multiple primary melanomas.

Total upper lip reconstruction with bilateral fan flaps.

Reconstruction of the total upper lip may be easily performed using fan flaps. However, two details must be taken into consideration: 1) the wide pedicle in the commissural angle, including the facial artery, must be designed, and 2) the mucosal flap must be 8 mm longer, in the inner portions, than the skin flap used to reconstruct the lip semimucosa.