[Skin lesions, atresia of lacrimal ducts and pancytopenia in a young man. Congenital dyskeratosis or Zinsser-Engman-Cole syndrome].
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Biomedical subjects
Publications and source records attributed to A Aliaga Boniche.
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Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterised by poikilodermatous skin changes that appear in childhood. Patients exhibit variable additional features including juvenile cataracts, skeletal abnormalities and a higher than expected incidence of malignancies. We report a case of squamous cell carcinoma of the tongue in a 37-year-old Rothmund-Thomson syndrome patient and review the natural history of this rare disease, given that the patient was diagnosed with Rothmund-Thomson syndrome at the age of 8 years and was first reported in 1975.
BACKGROUND: Since the recent description of immediate hypersensitivity to latex, many cases have been reported, some of them with anaphylactic reactions. The aim of this study is to analyze the clinical findings, diagnostic management and therapeutic procedures in these patients. METHODS: We reviewed the clinical findings in 15 patients with contact urticaria to latex from our files. Use-test with a surgical glove, prick-test trough a rubber glove, RAST to latex and standard patch-tests were performed in each case. RESULTS: We found a M:F ratio of 1:4 (3 males and 12 females) and the mean age at diagnosis was 33 years. Atopic background was present in 60% of cases and 46% were health care workers. Systemic manifestations of allergy were found in 25% of patients. Two cases developed anaphylactic shock. Cutaneous manifestations included localized contact urticaria in 33% of cases, chronic hand eczema and urticaria in 46%, and immediate contact dermatitis in 20%. All cases showed a positive use-test, while prick-test and RAST showed positive results in only 75% of patients. Positive patch-test to rubber accelerators were found in 33% of cases. CONCLUSIONS: Latex immediate hypersensitivity is frequently seen at present. Its prevalence in health care workers is high. Atopic constitution, chronic hand eczema, continuous gloves usage, and contact dermatitis to rubber additives are predisposing factors. Diagnosis can be assessed by clinical findings and use-test, confirming by prick-test and RAST.
A HIV infected patient was admitted to hospital with fever diarrhoea and a cutaneous nodule on his left groin. Histopathological exam was diagnostic of cutaneous leishmaniasis. Subsequent exams disclosed Visceral Leishmaniasis. Three cycles of treatment (antimonials, pentamidine and metronidazole) were required for the clearance of lesions. The relation between immunosuppression and leishmania infection is commented and its role as an opportunistic pathogen is suggested. In these patients the infection takes a more aggressive course and has a worse response to the classic treatment with antimonials. These facts have made necessary the introduction of other alternative drugs.
We present a case of subungueal keratoacanthoma. The tumor recurred three months after extirpation and didn't resolve spontaneously. The patient need a new surgery a year later. We revised the literature and comment the clinical and histological features that define this distinct entity and differentiate it from common keratoacanthoma and subungueal squamous cell carcinoma.
We present a 45 years old male with dermatomyositis refractory to eight months of standard treatment who responded to plasma exchange. The efficacy of the procedure is estimated from clinical follow-up (increase in strength) and serum creatine-kinase activity (decrease from 3,380 to 44 u/ml.) after five sessions of plasma exchange. The therapeutic indications for PE are reviewed in dermatological diseases with emphasis on cases where the response to steroids or cytotoxic drugs is inadequate.
We have carried out retrospective study of 190 children with dermatitis, aged from 2 to 14 years old. 67 (35%) of these children showed positive patch-test reactions. Nickel sulphate (35%) was the first allergen. Form 1979, once mercury was introduced in the GEIDC standard series, it becomes the more common iatrogenic allergen in childhood in our country. Other allergens also responsible for the dermatitis were mercaptobenzothiazole (12%), cobalt (9%) and p-phenylenediamine (7%).
A case of a woman of 23 years old with lesions in the exposed areas of the skin (face and lower neck) is presented. The histological study was compatible with pemphigus (subcorneal acantholysis and acantholytic cells). The direct immunofluorescence revealed the presence of IgG in intercellular spaces on all the surfaces of the epidermis. In the indirect immunofluorescence ANA (1/800), anti-DNA (1/200) and anti-ICS (1/200) was found. The rest of the analysis clearly showed thrombocytopenia and C4 consumption. The interesting aspect of this case rests in the coexistence of clinical and analytical findings of each of these of autoimmune diseases.
During the summer months three young patients were examined by us for an asymptomatic cutaneous eruption of erythematous papules located on neck, shoulders and back. They were heat-resistant to several antiseptics and systemic antibiotic treatment. The mechanical expression of these lesions did not reveal the appearance of pus, but a hard keratinous matter. The histopathological findings of the lesions show a non specific folliculitis, but the PAS stain shows numerous spores of yeast forms within the keratinous material of the follicle. The culture of this material in bacteriological and mycological ordinary media is negative, but the culture in the Dixon media reveals the growth of typical colonies of Pityrosporum orbiculare. The patients responded successfully to a 3 weeks course of ketoconazole (200 mgr/d).
The authors report one case of Thomson type congenital poikiloderma with major bone dysplasias. Acroplasia of all extremities with agenesis of tibia and radius, and a peculiar aspect of the face are in contrast with the scarcity of cutaneous symptoms, the absence of consanguinuity, cataract, photosensitivity. The position of Thomson type congenital poikiloderma among the congenital poikilodermas is reviewed.
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