Anderson-Fabry disease: enzyme replacement therapy.
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Biomedical subjects
Publications and source records attributed to Jaime Toribio.
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BACKGROUND: Controversy exists as to whether treatment of actinic keratoses with intermittent doses of topical 5-fluorouracil is effective in the absence of significant irritation. OBJECTIVE: To evaluate the efficacy and degree of irritation of 5-fluorouracil as a function of its application frequency. METHODS: A total of 85 actinic keratoses in 53 patients were treated, initially with four applications per week for the first week. After this first week, if intolerable irritation arose, patients were instructed to reduce application frequency to two times per week for the rest of the treatment period. RESULTS: Treatment was completed for 95.4% of the lesions included, with healing of 88.6% of them. The mean time to healing was 7.4 weeks (with four applications weekly) and 10.2 weeks (with two applications). The healing rate was similar in the two groups. Significant correlations (p<0.001) were observed between application frequency and time to healing. CONCLUSION: Intermittent 5-fluorouracil treatment is effective without causing significant irritation, but time to healing increases with declining application frequency.
The allergenic properties of the preservative Kathon CG have been well known since 1980. Kathon CG is regularly used in many industrial processes because of its germicidal powers. The most common sources of exposure for people are cosmetics and toiletries. Occupational contact dermatitis is unusual among milk industry workers because of the high level of factory automation.
We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology.
The report deals with three patients, who developed paracoccidioidomycosis in Europe after having been in South America 50, 25 and 38 years before, respectively. The conditions for the long period of quiescent infection and for the late manifestations are discussed.
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Annular lesions can be found in cases of lichen planus (LP). We present a case with follicular (histopathologic) and annular (clinical) features. To our knowledge, this is the first case of annular follicular LP reported in the literature.
We present the case of a 64-year-old male who developed multiple asymptomatic papules over a four-month period, distributed symmetrically on the trunk and proximal regions of the limbs, while the scalp, palms, soles and mucous membranes were spared. The lesions were discrete papules, brownish-erythematous, rounded, ranging from slightly raised to hemispherical, from 1 to 3 mm in diameter and firm to the touch. Clinical, histopathological, immunohistochemical and ultrastructural studies were consistent with generalized eruptive histiocytoma. Laboratory tests and radiological studies did not show any abnormal findings. After being subjected to photochemotherapy, the lesions regressed, but later on new outbreaks of papules appeared. Generalized eruptive histiocytoma belongs to a spectrum of diseases that may overlap; some may even develop into others. As the disease may progress into a more serious ailment, regular checkups with clinical, histological and immunohistochemical examinations should definitely be considered.
A 17-year-old woman with Cornelia de Lange syndrome had asymptomatic skin lesions since the age of 4 years. These were multiple, follicular, horny papules, present on both cheeks, and surrounded by erythematous skin. Similar lesions were present on the external aspect of the arms, but amidst skin of normal coloration. Keratosis pilaris atrophicans faciei (ulerythema ophryogenes) has been described as a cutaneous marker for several congenital syndromes. To our knowledge, its possible association with Cornelia de Lange syndrome has never been reported.
Necrobiosis lipoidica (NL) is a rare disorder that usually appears in the lower extremities and it is often related with diabetes mellitus (DM). There are few reported cases of NL in children. Transfollicular elimination of necrotic material has been described in adult patients with NL diabeticorum. Here we describe two new cases of NL in two girls with type I diabetes mellitus (DM). One of the cases is the first case, to our knowledge, of transfollicular elimination in a girl. The other case is the second case reported of lesions on the arms in a child with DM.
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The cutaneous mucinoses are a heterogeneous group of diseases in which mucin accumulates in the skin. Reticular erythematous mucinosis (REM) is an infrequent variant. We present a 48-year-old man with essential thrombocytosis and REM lesions with atypical telangiectasias on his chest, who developed a non-small cell lung carcinoma. We discuss the unusual clinical finding of telangiectasias over REM lesions and the association with essential thrombocytosis and lung carcinoma.
We report a 65-year-old Caucasian man who exhibited a disseminated superficial porokeratosis. Histological examination with haematoxylin and eosin stain revealed the presence of dermal deposits of an eosinophilic amorphous material that stained positively with crystal violet and showed bright yellow fluorescence with thioflavin-T under the polarizing microscopy, indicating that it was amyloid. Colloid bodies from porokeratotic lesions can degenerate into amyloid, but it is not usually detected with haematoxylin and eosin stains because of its small quantity. Probably amyloid deposits could be detected more frequently in porokeratosis if histochemical techniques were carried out in a routine way.