[Oral findings in patients with Mljet disease].
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Biomedical subjects
Publications and source records attributed to T Salamon.
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11 patients with Mal de Meleda (keratoderma palmoplantaris transgrediens) had changes of the finger-and toenails. A peculiar alteration of the fingernails, in which the proximal part of the nails was pink, the distal part pale, was found in 3 patients. Polymorphous changes of the fingernails, but uniform changes of the toenails were found seen.
The authors reexamined eight patients with autochthonous Meleda disease. They further report about three other patients with this disease living on the island of Mljet (Meleda). Fron the clinical appearance the authors conclude that Meleda disease belongs to the group of Akroerythrokeratodermias. In no case an enhancement of the keratinisation disorder had occurred. The hyperkeratosis but not the erythrodermatic signs drastically reduced within two weeks after a treatment with an aromatic retinoid (Ro 10-9359).
A family is described in which eight cases of autosomal dominantly inherited keratodermia palmo-plantaris papulosa were found in three generations. The propositus and his brother suffered simultaneously from deuteranopia and deuteranomalia. The propositus was operated on for gastric and duodenal ulcers; his brother, as well as his eldest son, had radiologically confirmed duodenal ulcers. Moreover, some members of the family had different inherited anomalies. The significance of these signs is unknown. The definition of the concept of the focal character of phenotypic expression of the pathologic gene is given. According to our histologic and ultrastructural investigations, as well as our study of the available literature, keratodermia palmo-plantaris papulosa is a heterogeneous entity.
Two siblings with symptoms of Keratodermia palmo-plantaris areata and striata are described. The late father had some inherited disease of the skin. Neither ophthalmologic system nor a defect of intelligence existed in these cases. In the first case aminoacids in the blood and urine were examined, but neither thyrosinaemia nor thyrosinuria was found. The clinical signs in the siblings differed, and this difference was dependent from environmental factors. The focal character of the phenotypic expression of the pathologic gen of this inherited abnormality as well as other inherited diseases has been stressed.
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A case of Werner's syndrome in a 39-year-old man is described. PPD and trichophytin intradermally proved negative; the percentage of T-lymphocytes and the lymphocyte response to PHA were reduced. Cellular immune reactions seem to have been impaired in this case.
Two cases of lichen myxoedematosus are described. In the first the disease was associated with lupus erythematodes systemicus or lupus erythematodes systemicus-like eruption, in the second with lupus erythematodes chronicus. In both cases the lichen myxoedematosus appeared before the other disease.
According to the author there are five possible kinds of relationship between visceral neoplasmas and diseases of the skin. 1. Instances in which neoplasma induces dermatosis (the so-called paraneoplastic diseases). 2. Instances in which defective immune mechanism or long-lasting immune suppression promote the development of neoplasma as well as of skin diseases due to microorganism and viruses. 3. Instances in which the tumor and dermatosis are associated without causal relationship. 4. Cases of malignant lymphoma arising from neoplastic proliferation of the cells of the reticulohistiocytic system involving visceral organs and the skin. 5. Skin metastases of internal neoplastic processes.
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The case of a 2-year-old boy with keratosis follicularis spinulosa decalvans is described. On of his sisters had keratosis follicularis of the upper arms, forearms, thighs and legs as well as blepharonconjunctivitis chronica catarrhalis bilateralis and was considered as forme fruste of the anomaly. His mother had sparse eyebrows. The mode of inheritance and the Lyon hypothesis are discussed.
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