Capillary malformation-arteriovenous malformation syndrome: a multicentre study.

BACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare syndrome with characteristic skin lesions that are associated with fast-flow vascular malformations (FFVMs) in one-third of patients. Few case series have been described, and none in Spain. AIM: To identify the prevalence of dermatological parameters, FFVMs and associated features in a large series of patients with CM-AVM. METHODS: We conducted an observational study of patients with CM-AVM syndrome diagnosed in 15 Spanish hospitals over 3 years. The main clinical, radiological, genetic findings and associated diseases were analysed. RESULTS: In total, 64 patients were assessed. In 26.5% of cases, the diagnosis was incidental. In 75% of patients, there was one significantly larger macule, which we termed the 'herald patch'. FFVMs were detected in 34% of the patients, with 30% located on the skin, 7.8% in the brain and in 1.5% in the spine. There was a positive family history in 65% of the 64 patients. Genetic analysis was performed for RASA1 mutations in 57 patients, of whom 42 (73%) had a positive result. All 4 patients tested for EPHB4 mutations had a positive result. No tumour lesions were detected in the series, except for five infantile haemangiomas. CONCLUSIONS: Our data on clinical lesions, associated FFVM, family history and genetics are similar to those previously published in the literature. An extensive data analysis failed to demonstrate any statistically significant association between the presence of an FFVM and any clinical, familial or genetic parameter that could predict its onset, although a link between the presence of a herald patch on the midline face and the presence of a brain FFVM was observed. We did not detect any genotype-phenotype correlation.

Reconstruction Techniques of Choice for the Facial Cosmetic Units. / Técnicas reconstructivas de elección por unidades estéticas faciales.

BACKGROUND AND OBJECTIVES: A broad range of skin flaps can be used to repair facial surgical defects after the excision of a tumor. The aim of our study was to develop a practical guideline covering the most useful skin grafts for each of the distinct facial cosmetic units. MATERIAL AND METHODS: This was a multicenter study in which 10 dermatologists with extensive experience in reconstructive surgery chose their preferred technique for each cosmetic unit. The choice of flaps was based on personal experience, taking into account factors such as suitability of the reconstruction technique for the specific defect, the final cosmetic result, surgical difficulty, and risk of complications. Each dermatologist proposed 2 flaps in order of preference for each cosmetic subunit. A score of 10 was given to the first flap and a score of 5 to the second. RESULTS: The total score obtained for each of the options proposed by the participating dermatologists was used to draw up a list of the 3 best grafts for each site. There was notable unanimity of criteria among most of the dermatologists for reconstructive techniques such as the glabellar flap for defects of the medial canthus of the eye, the bilateral advancement flag flap or H flap for the forehead, the rotary door flap for the auricle of the ear, the Mustarde flap for the infraorbital cheek, the O-Z rotation flap for the scalp, the Tenzel flap for the lower eyelid, and the island flap for the upper lip. CONCLUSIONS: The results of this study will be useful as a practical guide to choosing the best reconstruction technique for each of the facial cosmetic units.

Autoimmune progesterone dermatitis: treatment with oophorectomy.

Autoimmune progesterone dermatitis is a rare manifestation of hypersensitivity to endogenous hormones with polymorphic clinical manifestations. We report a 28-year-old woman with a 5-year history of mucocutaneous erythema multiforme occurring cyclically in the premenstrual period. Progesterone sensitivity was demonstrated by challenge test with medroxyprogesterone acetate. Treatments with oestrogens, tamoxifen and triptorelin had to be withdrawn because of intolerable adverse effects. Oophorectomy finally cured the disease.

[Keratotic neurocutaneous syndromes]. / Síndromes neurocutáneos queratósicos.

OBJECTIVE: To review current knowledge of etiologic, clinic, diagnostic and therapeutic aspects of ichthyotic diseases with neurologic manifestations. DEVELOPMENT: Classic keratotic neurocutaneous syndromes including Sjögren-Larsson syndrome, trichotyodystrophy, KID (keratitis, ichthyosis and deafness) syndrome and Rud syndrome, are reviewed. Furthermore, we pay attention to syndromes whose description and study are of current importance: cardiofaciocutaneous syndrome, neutral lipids storage disease with ichthyosis, multiple sulphatase deficiency disease and peroxisomal disorders. CONCLUSIONS: Keratotic neurocutaneous syndromes knowledge will help to improve its diagnosis and therapeutic approach.

Linear IgA disease in a patient with bladder carcinoma.

We report a patient with a transitional bladder carcinoma who developed a widespread blistering eruption. The lesions showed immunopathological findings characteristic of linear IgA disease with a good response to sulphapyridine. The relationship between linear IgA disease and neoplasia has been the subject of several reports suggesting that this association is not due to chance.

Sun exposure, pigmentary traits, and risk of cutaneous malignant melanoma: a case-control study in a Mediterranean population.

The main objective of this study was to assess the influence of sun exposure and pigmentary traits on the risk of cutaneous malignant melanoma (CMM) in a Mediterranean population (Andalusia, southern Spain). Cases and controls were selected from 1988 to 1993. The study population included 105 incident cases with non-familial CMM (ICD-9 code 172) and 138 controls aged 20 to 79 years. Data were collected by personal interview, and melanocytic nevi were counted over the entire body surface. Crude, and multiple-risk factor adjusted, odds ratios (OR) and their 95 percent confidence intervals (CI) were computed. After adjustment, the major constitutional risk factor was skin type I-II (OR = 29.8, CI = 8.9-100) compared with skin type V. Statistically significant and positive trends were observed between the risk of CMM and occupational sun exposure of the skin (P = 0.003), recreational exposure (P < 0.001), and cumulative lifetime sun exposure (P < 0.001). Several characteristics related to sun exposure during summer increased the CMM risk, e.g., episodes of blistering sunburns and the number of sunbaths in childhood. Use of sunscreens and spending summer holidays in places other than beach were associated with a lower risk of CMM. Regarding pigmentary traits, CMM significantly occurred with more frequency in individuals with a high degree of freckling and quoted numbers of melanocytic nevi. In conclusion, the results support sun exposure and pigmentary traits (skin type, melanocytic nevi, and freckles) as main risk factors for CMM in this population.

Multivariate analysis of cutaneous markers of aging in chronic hemodialyzed patients.

BACKGROUND: Although hemodialysis has been associated with lesions of cutaneous aging, no controlled studies have been done in patients with chronic renal failure under periodic hemodialysis. Our purpose was to determine the prevalence of several clinical parameters of cutaneous aging and their relationship with hemodialysis. METHODS: One hundred fourteen patients on chronic hemodialysis were investigated for the presence of several cutaneous aging markers in a cross-sectional study, using multivariate analysis to minimize the confounding effect of age. RESULTS: Skin cancer was diagnosed in 3 patients (2.6%), actinic keratoses in 12 (10.5%), senile lentigo in 22 (20%), senile purpura in 15 (13%), and Favre-Racouchot disease in 6 (5%). There was no association with skin types or facial wrinkles with any other of the skin-aging features studied. Multivariate analysis, controlling for age as a confounding variable, indicated that the degree of facial wrinkles and the decrease in stratum corneum hydration (capacitance) correlated significantly with the length of time on hemodialysis (P = 0.012 and P = 0.012, respectively). Favre-Racouchot disease (Odds Ratio [OR] = 1.23, P = 0.055, 95% confidence interval [CI] 0.99-1.52) and actinic keratoses (OR = 1.15, P = 0.076, CI 0.98-1.34) became increasingly frequent with the duration of chronic hemodialysis. CONCLUSIONS: These data show a high prevalence of cutaneous aging lesions in patients on chronic hemodialysis. Acceleration of cutaneous aging is associated with time on hemodialysis.

[Skin aging and smoking]. / Envejecimiento cutáneo y tabaquismo.

Facial wrinkling is a marker of skin ageing. The association between smoking and facial wrinkling has been previously studied. Nevertheless, there are no reports assessing the role of sun exposure and smoking in an area with a great proportion of sunny days. Smoking habits were investigated in 282 healthy individuals. Facial wrinkles were measured according to the Daniell scale at the external canthus. A logistic regression model was developed controlling for age, sex, sun exposure, smoking habit and searching for the interaction between sun exposure and smoking. A statistically significant risk was found for smoking habit (OR = 3.1; 95% CL 1.28-7.76; p = 0.008), sun exposure (OR = 1.50; 95% Cl 1.25-1.80; p = 0.05), and age (OR = 1.18; 95% Cl 1.13-1.23; p = 0.024) for facial wrinkling. These results show the evidence of an accelerated skin ageing in smokers. A clear explanation given to smokers could be a useful strategy to persuade them to leave smoking.

Muir-Torre syndrome associated with a family history of hyperlipidemia.

The Muir-Torre syndrome is a rare disorder characterized by sebaceous neoplasms of the skin and multiple visceral malignancies. The syndrome appears to be a familial, autosomal dominant condition. We diagnosed this syndrome in a previously unreported patient and found a personal and family history of malignancies and hyperlipidemia. The association of Muir-Torre syndrome with a family history of hyperlipidemia, another autosomal dominant condition, has not been previously reported. The possible genetic relationship between the two disorders is discussed.