Invasive periorbital squamous cell carcinoma.
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Aged↗
Biomedical subjects
J Bravo-Piris
Publications and source records attributed to J Bravo-Piris.
[Cutaneomucous hyalinosis in monozygotic twins].
Two Urbach-Wiethe disease cases in both univitelline twins sisters, 8 years old, are presented. Consanguinity is demonstrated in their parents and we consider this to be the second study of this type described in Spain and the first one in the world with such genetic features. We emphasize the early process apparition--just after birth--clinically characterised only by hoarseness. In consecutive years, both sisters developed varioliform scars on elbows, knees, and forehead and induration of lips on their mucous surface and palpebral margins. The histological and ultrastructural findings superposed in both patient--typical and confirmatory of the clinical picture--are commented as well as present histopathogenetic interpretations.
Basement Membrane↗
Papillon-Lefèvre syndrome. Report of a case treated with oral retinoid RO 10-9359.
We report a case of Papillon-Lefèvre syndrome in a patient aged 26 in whom the familial genetic study showed close consanguinity among the parents. Oral treatment with aromatic retinoid during 6 weeks provided nearly total healing of the cutaneous lesions. Among the explorations carried out, attention must be paid to the lessening of chemotactic factors in the blood serum. Throughout his life, the patient suffered pronounced bacterial infectious processes, the last being especially severe and leading rapidly to death.
Adult↗
Pipillon-Lefèvre syndrome: report of two familial cases.
Two cases with Papillon-Lefèvre Syndrome (PLS) are reported. They are two brothers belonging to a family which there is strong consanguinity. An autosomal recessive pattern of inheritance is suggested. Some pathological findings as congenital bronchiectasis observed in one of the patients as well as the PLS features are discussed and considered to be fortuitous defects. These observations are compared with those described in the literature.
Adolescent↗