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J Ferrando

Publications and source records attributed to J Ferrando.

At least 19 recordsLinked to original sources
PubMed1995

Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis in three siblings.

BACKGROUND: Generalized follicular hamartoma is a rare condition that has been described in association with alopecia, myasthenia gravis, and circulating autoantibodies. To date, all reported cases have appeared in female individuals. We report a kindred in which three siblings were affected by this condition in association with alopecia and cystic fibrosis. OBSERVATIONS: Three children of two consanguineous patients were affected by cystic fibrosis. They also had the same phenotype characterized by senilized facies, partial alopecia, and hypohidrosis, severe retardation of physical growth, and hyperelasticity of the skin. In all three children, skin biopsy specimens revealed the presence of basaloid proliferations at the level of the hair follicles that could not be demonstrated in their healthy parents. Myasthenia gravis did not appear during the clinical course of our patients, and circulating autoantibodies were not detected. All three patients died during childhood due to complications of cystic fibrosis. CONCLUSIONS: Generalized follicular hamartoma is a rare condition previously reported in association with alopecia, myasthenia gravis, and/or circulating autoantibodies (antinuclear and antiacetylcholine receptor antibodies). These are the first congenital cases of generalized follicular hamartoma described, and it is also the first time that an association with cystic fibrosis is reported. The striking association of generalized follicular hamartoma with cystic fibrosis in these three siblings suggests that there may be a genetic linkage between the two conditions.

Alopecia↗
PubMed1995

Green hair.

Green hair is an unusual dermatologic condition usually due to the deposition of copper from exogenous sources. We report the cases of two patients who presented to our clinic with green discoloration of their hair. This pigmentation of hair has generally been reported in patients with blond hair as a consequence of increased concentrations of copper in domestic or swimming pool water. Although an increased copper content of the affected hair seems to be a prerequisite, other predisposing factors have to be present for this situation to occur. These include previous hair damage (mechanical, sun exposure, bleaching, dyeing, waving), frequent contact with chlorinated water, or use of alkaline shampoos. Several options for treatment have been described for this problem, including application of hot vegetable oil, hydrogen peroxide, edetic acid- or D-penicillamine-containing shampoos, or hydroxyethyl diphosphonic acid.

Adult↗
PubMed1994

[Sarcoidosis of the paranasal sinuses].

Nasosinusal Sarcoidosis is an uncommon entity setting forth diagnostical and therapeutical questions to be answered. The AA. report a case of the sort with simultaneous pathological involvement of the skin, without systemic manifestations. The disease showed as a mucopurulent scaly rhinitis. The maxillary sinus was stuffed with sarcoid tissue. Both topical and systemic treatment with corticoid drugs failed to bring nasal and sinusal lesions to lessening. The skin changes unfolded favourably.

Beclomethasone↗
PubMed1992

Neutrophilic pustulosis associated with chronic myeloid leukemia: a special form of Sweet's syndrome. Report of two cases.

Two subjects with Ph-positive chronic myeloid leukemia (CML) in whom pustular Sweet's syndrome was diagnosed are reported. The first patient was a 47-year-old woman who developed fever, painful ulcers of the oral mucosa and vagina and generalized pustulous skin lesions 2 years after the diagnosis of CML. Histologically, the skin lesions consisted of dense neutrophilic infiltrates with perifollicular disposition. The microbiologic studies were negative. The lesions showed a favorable response to corticosteroids, but fever recurred with every attempt of tapering prednisone; it finally disappeared with the addition of oral cyclophosphamide. The second patient was a 45-year-old man who developed fever and disseminated pustules with histologic features consistent with Sweet's syndrome and negative microbiologic studies at 2.5 years after diagnosis of CML. The picture showed a dramatic response to prednisone and did not recur after the drug was discontinued. In both patients, CML remained stable after resolution of Sweet's syndrome.

Cyclophosphamide↗
PubMed1991

[Recurrence factors in benign gastric ulcer].

Among 7015 upper gastrointestinal endoscopies done during five consecutive years (1984-1988) 642 patients were diagnosed as having benign gastric ulcer. Of this group, 213 patients have been followed-up during an adequate period of time. A recurrence was diagnosed endoscopically in 43 (20.18%). The authors analyze the influence on recurrences of general factors (age, sex, alcohol, tobacco and drugs), family history and local factors (site and size of the ulcer, histological lesions, concomitant duodenal ulcer or single or multiple ulcers). The conclusions are that in females and in males over 60 years of age, NSAIDS are the factors which greatly influence recurrences, while in males under 60 years of age, excessive smoking and alcohol. Chronic gastritis and intestinal metaplasia are common in recurrent ulcers. Multiple ulcers as well as those associated with duodenal ulcers have a greater tendency to recur. Recurring ulcers are more common at the incisura angularis. Recurrences are usually located at the site of a previous ulcer.

Biopsy↗
PubMed1991

[Barrett esophagus as precancerous lesion].

The incidence of Barrett's esophagus is still little known. Our objective has been to study the incidence of this lesion in our environment as well as the frequency of malignant degeneration in our endoscopic material. Among 12,450 upper digestive endoscopies done in the past 7 years, 945 instances of peptic esophagitis have been diagnosed (7.59%). Among them, 172 cases of endobrachiesophagus (Barrett's esophagus) were detected (1.38% of the entire endoscopy series and 18.2% of all cases of esophagitis). Twenty two of th 172 patients with Barrett's esophagus were diagnosed as having carcinoma (12.79%). Barrett's esophagus is a frequent complication of peptic esophagitis and as the possibilities of malignant changes are as high as 12.79 it should be considered as a precancerous lesion and monitored as such.

Adenocarcinoma↗
PubMed1991

[Hepatic activity of glutathione transferase and bromsulphalein metabolism].

The gluthatione transferase activity has been studied in liver biopsies from patients suffering with different hepatic lesion and related to the bromsulphalein (BSP) maximal transport (MT) and the conjugated dye present in serum. Results prove that the MT of BSP is independent of the enzyme activity, but is correlated to the conjugated BSP present in serum during the first perfusion. The enzyme activity, the MT of BSP and BSP conjugated rare in serum are not related to the liver lesion stage. From the analysis of our results we conclude that in the beginning the BSP conjugated proportion is determined by the enzyme activity which is not a restrictive factor of the BSP maximal transport.

Female↗
PubMed1990

Small bowel enema in non-responsive coeliac disease.

A small bowel enema was performed in patients with non-responsive coeliac disease, in coeliac patients on a normal diet (untreated) and those who had shown a good response to a gluten free diet, and in control subjects to determine whether there were any specific radiological features of the non-responsive state. A significant reduction in the average number of jejunal folds and an increase in the number of ileal folds (reversal of the jejunoileal fold pattern) was found in eight of nine non-responsive coeliac patients, one of seven untreated coeliac patients, and in none of the good responders or control subjects. This pattern identifies coeliac patients with a poor response to a gluten free diet who are likely to suffer major complications.

Adolescent↗
PubMed1990

[Multiple familial trichodiscoma].

Trichodiscomas are hamartomas of the pilar apparatus, and have been described alone or associated to other benign proliferations of the pilar complex. Two familial cases of trichodiscomas not associated to pilar alterations or systemic manifestations are described.

Adult↗
PubMed1990

[Metastatic alopecia].

Two cases of metastasic alopecia from breast adenocarcinoma were reported. Clinical and differential aspects from other types of alopecia are also commented.

Adenocarcinoma↗