Antonio J Chaves

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KLICK syndrome is a rare autosomal-recessive skin disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules, and ichthyosiform scaling. In order to establish the genetic cause of this disorder, we collected DNA samples from eight European probands. Using high-density genome-wide SNP analysis, we identified a 1.5 Mb homozygous(More)
To the Editor: Autoinflammatory diseases are a heterogeneous group of disorders mediated by abnormal activation of the innate immune system, resulting in recurrent episodes of systemic and organ-specific inflammation. In recent years, the pace of autoinflammatory disease gene discovery has undergone a dramatic acceleration with the emergence of novel(More)
BACKGROUND Beta-catenin, an E-cadherin-associated protein involved in cell-cell adhesion and signaling, has been hypothesized to translocate to the nucleus and activate transcription in several human cancers, including oral squamous cell carcinomas (OSCC). METHODS In the present study, we analyzed the subcellular localization of beta-catenin in cultures(More)
BACKGROUND Melkersson-Rosenthal syndrome may manifest as the classical triad (orofacial edema, facial nerve palsy and stable lingua plicata) but monosymptomatic manifestations or combinations of typical symptoms are not infrequent. The available therapeutic options provide only limited success or temporary benefit. CASE REPORT A 20-year-old man presented(More)
We report a 50-year-old man that presented a zosteriform cutaneous leiomyoma in the left facial region, intensely painful, that showed great improvement after the administration of a daily dose of 4 mg of oral doxasozin. The therapy was well tolerated and did not present any associated adverse effect. In the English medical literature only two cases(More)
Colloid milium is a degenerative process that is characterized clinically by the development of translucent, yellow, 1-2 mm papules located in photoexposed areas. Histologically, deposits of a colloid substance are seen in the papillary dermis. We present two cases of this infrequent pathology in two male patients, who had been subjected to intense sun(More)
We describe the case of a 32-year-old male patient who had presented from birth with generalized ichthyosiform dermatosis, palmoplantar keratoderma with constrictive bands around the fingers and keratotic plaques in a linear arrangement, located in the large skin folds. The dermatopathological examination showed orthokeratotic hyperkeratosis and epidermal(More)
Introduction Loss-of-function mutations in the IL36RN gene define a novel recessively inherited autoinflammatory syndrome named deficiency of IL-36 receptor antagonist (DITRA). This genetically determined deficiency was first described in a subgroup of patients with generalized pustular psoriasis. It is a life-threatening condition characterized by(More)
OBJECTIVE To perform a cost-effectiveness analysis, by using a decision tree model, comparing methotrexate with PUVA therapy for moderate to severe chronic plaque psoriasis in the sanitary area of Badajoz (south-western Spain) over a one-year period. MATERIAL AND METHODS The following variables and data sources were included: efficacy (a 50 % reduction in(More)
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