Marina Rodríguez-Martín

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Identification of the underlying genetic, cellular, and biochemical basis of lipid metabolic disorders provides an opportunity to deploy corrective, mechanism-targeted, topical therapy. We assessed this therapeutic approach in two patients with Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome, an X-linked dominant(More)
Urea is an endogenous metabolite, known to enhance stratum corneum hydration. Yet, topical urea anecdotally also improves permeability barrier function, and it appears to exhibit antimicrobial activity. Hence, we hypothesized that urea is not merely a passive metabolite, but a small-molecule regulator of epidermal structure and function. In 21 human(More)
Two critical defensive functions of the outer epidermis, the permeability barrier and antimicrobial defense, share certain structural and biochemical features. Moreover, three antimicrobial peptides (AMPs), i.e., mouse β-defensin 3 (mBD3), mouse cathelicidin antimicrobial peptide (mCAMP), and the neuroendocrine peptide, catestatin (Cst), all localize to the(More)
Delusional parasitosis is characterized by a patient's fixed false belief of being infested with parasites or small creatures. The first-line treatment options are typical antipsychotics such as pimozide. However, the accompanying extrapyramidal side effects might limit their use. We report on a patient with a good response to pimozide combined with(More)
Molecular geneticists tend to conceptualize disease pathogenesis from the mutated gene outward, an approach that does not take into account the impact of barrier requirements in determining disease phenotype. An 'outside-to-inside' perspective has provided quite different explanations for the ichthyoses, including several of the disorders of distal(More)
BACKGROUND Vitiligo has been associated with multiple endocrine and immune conditions. Several laboratory tests have been assessed in this disease with controversial results. OBJECTIVE The aim of this study is to analyze the levels autoantibodies, basal glycaemia, vitamin B12, folic acid and thyroid function and its association with the diagnosis and(More)
Amphibian lampbrush chromosome loops exhibit morphological variability in their RNP matrix. The biological significance of such variability remains unknown. In order to approach this problem, the structural organization of each RNP matrix type was analyzed in relation to transcriptional and post-transcriptional processes. First, autoradiographic and(More)
Alopecia areata (AA) and vitiligo are two common disorders in general population and coincidence of these two diseases is thus to be expected. However, anatomical coexistence of both conditions had rarely been reported. Many different etiological hypotheses have been suggested for both diseases. While alopecia areata is considered a T-cell mediated(More)
Vitiligo is the most common depigmenting disorder, with a worldwide occurrence of 0.1–2% in the general population. Multiple conditions have been described colocalized in vitiligo patches, like psoriasis or lichen planus. However, actinic granuloma has not been described in association with vitiligo lesions so far.
Melanoma involving the conjunctiva is extremely rare. Graver prognosis has been reported with primary conjunctival melanoma than with their cutaneous counterparts [Collin et al.: Aust N Z J Ophthalmol 1986;14:29–34]. Among conjunctival melanomas, two significant risk factors for tumour-related death have been identified: (i) age older than 55 years and (ii)(More)