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Biomedical subjects

R Vignale

Publications and source records attributed to R Vignale.

28 records · Page 2Linked to original sources
PubMed1984

[Multiple neurofibromas with zoniform distribution].

A patient with a zoniform neurofibromas of the left arm and forearm is studied. The disease is associated to an epithelial pathology of trichylemi cysts of the scalp. The differential diagnosis can be that of Von Recklinhausen's disease. By the lack of positive elements for these disease, the authors consider it is a nevi malformation with nervous cells, that it presents clinically by multiples neurofibromas with a characteristic distribution.

Biopsy↗
PubMed1984

Familial spastic ataxia associated with Ehlers-Danlos syndrome with platelet dysfunction.

Four members of a family with consanguineous relationships, the proband and his three children (2 sons and 1 daughter) are affected with Familial Spastic Ataxia and with Ehlers-Danlos' Syndrome with platelet aggregation dysfunction. In the four cases, this exceptional association appears remarkably homogeneous both in clinical and laboratory studies. The two syndromes are of dominant-autosomic transmission and probably originated in a new mutation which presumably maintained a genetic linkage. Spastic ataxia is characterized by a precocious onset and a slow evolution. The first-born son shows a dominant pyramidal syndrome with mild ataxia suggesting that it is a transitional form of familial spastic paraplegia. The Ehlers-Danlos syndrome pertains to form II or "mitis" with moderate skin hyperelasticity and joint hypermobility. The abnormal platelet aggregation curves have the same profile in all the patients. The first-born son also presents a mitral valve prolapsus as we may find either in Ehlers-Danlos syndrome or in spastic ataxia. The neurophysiological, tomographical, histological, ultrastructural and biochemical studies attempt to accomplish a better definition of these associated nosological entities.

Adolescent↗
PubMed1983

[Allergic contact dermatitis to ethylenediamine in skin grafts for burns].

A 49 years old patient who had been sensibilized with ethylendiamine in a previous work (furniture polishing) developed at his present work (casein production) an allergic contact dermatitis in large grafting areas of his lower limbs due to burning. The disease had exacerbations during the following months and cured with the suppression of the allergene.

Burns↗
PubMedDate not supplied

Van der Woude syndrome. A case report.

We describe several members of a family with Van der Woude syndrome, a genetic and congenital malformation syndrome with autosomal dominant inheritance and 70% to 80% penetrance with variable expressivity. It is characterized by clinical signs localized to the face, such as bilateral or unilateral pits on conical elevations in babies or extensive depressions in adults, both in the vermilion border of the lower lip, with cleft lip, with or without cleft palate and uvula. Small accessory or heterotopic salivary glands empty into sinuses or fistulas in the lips. This eight member family had various clinical signs of the condition. All had cleft lip and palate. We studied the major characteristics of the eight patients and describe histopathologic and immunohistochemical features.

Cleft Lip↗
PubMedDate not supplied

Hyphal production by Pityrosporum ovale.

Pityrosporum ovale with abundant hyphae was found in 8 patients with lesions of the scalp and glabrous skin. It is thought that P. ovale in its mycelial form can produce lesions on seborrheic areas of the skin that probably represent a clinical form of tinea versicolor.

Adolescent↗