RESUMEN
BACKGROUND: Skin aging is a gradual cumulative process that may be accelerated by various exposome factors. AIMS: To investigate associations between exposome factors and facial skin aging in 11 locations in Argentina. PATIENTS/METHODS: An observational, cross-sectional study with assessments by exposome questionnaire, Glogau photoaging classification from I to IV, AI-based algorithm analysis of 7 skin aging signs, and SCINEXA score. RESULTS: Of 1346 participants, most were women (82%), aged 31-50 years (62%), of skin phototype III (52%), and living in urban areas (94%). The Glogau skin age was higher than the chronological age for 28% of overall participants, 36% of men, and 45% of participants from Ciudad de Buenos Aires versus 12% from Jujuy (p < 0.001). Being male (OR = 1.59; 95% CI 1.18-2.13), exposed to agrochemicals (OR = 1.59: 95% CI 1.01-2.51), of lower socioeconomic levels (OR = 2.06; 95% CI 1.32-3.21) and doing outdoor physical activity (OR = 1.33; 95% CI 1.00-1.76) increased the risk for premature aging. Odds decreased with high daily intake of water (OR = 0.76; 95% CI 0.59-0.97), daily dermocosmetic use (moisturizers [OR = 0.72; 95% CI 0.55-0.94], cleansers [OR = 0.53; CI 95% 0.42-0.67], retinoids [OR = 0.61; 95% CI 0.39-0.95]), and antiaging treatments (OR = 0.74; 95% CI 0.57-0.97). CONCLUSIONS: Some exposome factors increased the risk for premature skin aging (physical outdoor activity, exposure to agrochemicals), while others were protective factors (high water intake, antiaging treatments, use of dermocosmetics). Locations with higher pollution levels had more premature skin aging.
Asunto(s)
Exposoma , Envejecimiento de la Piel , Humanos , Masculino , Femenino , Estudios Transversales , Argentina/epidemiología , AgroquímicosRESUMEN
A new fixed-dose combination formulation of adapalene 0.1% and benzoyl peroxide (BPO) 2.5% has shown excellent efficacy and safety in registration studies; however, it can be difficult to judge the real-world performance of a product using only the results from controlled clinical trials. This 12-week, open-label, community-based study evaluated adapalene/BPO in 91 patients with mild to moderate acne (20-50 inflammatory lesions and 30-100 noninflammatory lesions) who were treated at dermatology centers throughout Argentina. The study evaluated efficacy, described the most common side effects, determined tolerability, and assessed the level of patient satisfaction with treatment. By week 12, there were statistically significant reductions in both inflammatory and noninflammatory lesions (80.6% and 69.3% from baseline, respectively; P < .001); there were also significant improvements in the Investigator's Global Assessment scores (median score, 2.9 at baseline and 1.0 at week 12; P < .001). By week 12, 67% of patients were rated clear or almost clear by investigators. Local tolerability was good overall. When cutaneous irritation was present, it typically occurred in the first 2 weeks of treatment and improved or resolved with continuing therapy. Patients were highly satisfied with the results of treatment, and 74% of patients felt that they had marked or total improvement by week 12. Patient survey also revealed that 94% rated the efficacy as good or very good and 87.5% rated tolerability as good or very good. A significant majority (81%) felt that the treatment met expectations, and 62% perceived that improvement had been rapid during adapalene/BPO therapy. These results demonstrate that adapalene/BPO has good efficacy and tolerability in routine practice, resulting in continuous reductions in lesion counts throughout the study. Adapalene/BPO therapy is also associated with high patient satisfaction, which is important for therapeutic adherence and satisfaction with the physician's care.
Asunto(s)
Acné Vulgar/tratamiento farmacológico , Antiinflamatorios no Esteroideos/administración & dosificación , Peróxido de Benzoílo/administración & dosificación , Naftalenos/administración & dosificación , Adapaleno , Adolescente , Adulto , Combinación de Medicamentos , Femenino , Humanos , Masculino , Satisfacción del Paciente , Resultado del Tratamiento , Adulto JovenRESUMEN
BACKGROUND: Klippel-Trenaunay syndrome is defined by a coexistence of nevus flammeus and overgrowth of one or more limbs. Remarkably, however, deficient growth of an affected limb may likewise be noted. OBSERVATIONS: We collected from the literature a number of cases of Klippel-Trenaunay syndrome associated with deficient growth such as shortening or hypoplastic muscle mass of the affected extremity. DISCUSSION: The cause of the unusual deficient growth is unknown. Some patients may be compound heterozygotes carrying a 'plus' and a 'minus' allele at the responsible gene locus, and postzygotic recombination would give rise to two different cell clones homozygous for either allele. CONCLUSION: In order to give a name to such paradoxical cases, we propose the term 'inverse Klippel-Trenaunay syndrome'.
Asunto(s)
Trastornos del Crecimiento/complicaciones , Síndrome de Klippel-Trenaunay-Weber/complicaciones , Terminología como Asunto , Adolescente , Adulto , Niño , Preescolar , Femenino , Trastornos del Crecimiento/genética , Heterocigoto , Homocigoto , Humanos , Síndrome de Klippel-Trenaunay-Weber/genética , Masculino , Persona de Mediana Edad , Enfermedades Musculares/complicaciones , Enfermedades Musculares/genética , SíndromeRESUMEN
BACKGROUND: CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects, Online Mendelian Inheritance in Man 308050) is an X-linked dominant trait with lethality for male embryos. The disorder is caused by mutations in NSDHL (Online Mendelian Inheritance in Man 300275), a gene playing an important role in the cholesterol biosynthetic pathway. Most reports deal with sporadic cases, and only 5 cases of mother-to-daughter transmission have been documented. We present here a family with mild features of CHILD syndrome in 3 generations. Molecular analysis was used to confirm the diagnosis. OBSERVATIONS: We studied 14 members of a family with CHILD syndrome. The 23-year-old proposita, her mother, 2 aunts, and her grandmother presented with mild or minimal skin lesions that had been present since infancy. Analysis of the NSDHL gene showed missense mutation c.370G-->A in these 5 patients. This mutation was absent in the 9 clinically unaffected family members tested. CONCLUSIONS: In this family, we recognized CHILD syndrome with mild or minimal features in 3 generations because we were able to verify our clinical diagnosis by means of molecular analysis. We assume that many cases that so far have been considered sporadic may in fact be familial when a meticulous physical examination of female family members is combined with molecular testing.
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3-Hidroxiesteroide Deshidrogenasas/genética , Deformidades Congénitas de las Extremidades , Enfermedades Cutáneas Genéticas/diagnóstico , Adulto , Anciano de 80 o más Años , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Humanos , Queratosis/genética , Persona de Mediana Edad , Mutación Missense , Enfermedades de la Uña/genética , Nevo , Linaje , Enfermedades Cutáneas Genéticas/patología , SíndromeAsunto(s)
Mosaicismo , Retroelementos/genética , Animales , Terapia Genética/métodos , Genotipo , Humanos , Mutagénesis Insercional , Mutación/genéticaAsunto(s)
Incontinencia Pigmentaria/diagnóstico , Enfermedades de la Uña/diagnóstico , Alopecia/complicaciones , Alopecia/diagnóstico , Alopecia/patología , Diagnóstico Diferencial , Familia , Femenino , Predisposición Genética a la Enfermedad , Humanos , Incontinencia Pigmentaria/complicaciones , Incontinencia Pigmentaria/genética , Incontinencia Pigmentaria/patología , Persona de Mediana Edad , Enfermedades de la Uña/complicaciones , Enfermedades de la Uña/patologíaRESUMEN
The CHILD syndrome is an acronymic designation for congenital hemidysplasia with ichthyosiform nevus and limb defects. This X-linked dominant, male-lethal trait is caused by mutations in the gene NSDHL that is localized at Xq28 and involved in cholesterol metabolism. The CHILD nevus that constitutes a hallmark of this multisystem birth defect usually shows a striking lateralization pattern. Until now, a report of Zellweger and Uehlinger from 1948 was believed to represent the first published case of CHILD syndrome. However, we have now found an earlier report published in 1903 by Otto Sachs. An 8-year-old girl had a "xanthoma-like nevus" involving the right axillary region and a congenital muscular weakness of the right upper arm. Sachs described the clinical and histopathological features of CHILD nevus comprehensively, including the characteristic changes of verruciform xanthoma that can be taken within the group of epidermal nevi as a pathognomonic feature of CHILD nevus. This report is the earliest description of CHILD syndrome known so far. Moreover, Sachs presented in this article a comprehensive description of verruciform xanthoma, thus anticipating Shafer's "first report" of this histopathological phenomenon (1971) by almost 70 years.
Asunto(s)
Eritrodermia Ictiosiforme Congénita/historia , Deformidades Congénitas de las Extremidades/historia , Neoplasias Cutáneas/historia , Axila , Niño , Diagnóstico Diferencial , Femenino , Dedos , Historia del Siglo XX , Humanos , Eritrodermia Ictiosiforme Congénita/diagnóstico , Eritrodermia Ictiosiforme Congénita/patología , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/patología , Neoplasias Cutáneas/congénito , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , SíndromeRESUMEN
Hyperpigmented atrophoderma arranged in a pattern following the lines of Blaschko and appearing during childhood or adolescence on the trunk or the limbs is a characteristic feature of linear atrophoderma of Moulin. We review 15 published reports and describe 4 additional cases. Histopathologically, there is no clear sign of atrophy found in specimens examined by light microscopy. It might well be argued that a focal reduction of subcutaneous fatty tissue contributes to the obvious clinical atrophy. The cause and pathogenesis of the disorder remains unknown. It may reflect mosaicism caused by a postzygotic mutation that occurred at an early developmental stage, in analogy to many other diseases distributed along Blaschko's lines. Linear atrophoderma of Moulin may reflect the action of an autosomal lethal gene surviving by mosaicism. There are so far no reports of a familial occurrence that could favor a paradominant transmission of linear atrophoderma of Moulin. However, theoretically, the postzygotic mutation giving rise to an aberrant cell clone could still be nonlethal. In a heterozygous individual, a postzygotic mutational event might lead to loss of the corresponding wild-type allele at the atrophoderma locus. This would give rise to a homozygous cell clone, which becomes manifest along the lines of Blaschko later in life.