Biomedical subjects
Publications and source records attributed to P De Unamuno.
Multiple clustered dermatofibroma (MCD) is a rare tumour which usually appears during the first and second decades of life. We report a man in whom the MCD was congenital, although during the first few years of his second decade it extended to involve a broad zone on the left hip, gluteal region and upper thigh.
X-linked ichthyosis is a genetic disorder of keratinization characterized by a generalized desquamation of large, adherent, dark brown scales. Extracutaneous manifestations include corneal opacity and cryptorchidism. Since 1978 it has been known that a deficit in steroid sulphatase enzyme (STS) is responsible for the abnormal cutaneous scaling, although the exact physiological mechanism remains uncertain. The STS gene has been mapped to the distal part of the short arm of the X chromosome. Interestingly, this region escapes X chromosome inactivation and has the highest ratio of chromosomal deletions among all genetic disorders, complete deletions having been found in up to 90% of patients. Diagnosis of patients with X-linked ichthyosis and female carriers is based on biochemical and genetic analysis. The latter currently seems to be the most accurate method in the majority of cases.
In the period 1962-1974, 36 patients with X-linked ichthyosis, belonging to 22 families, were selected for study. The frequency of this genodermatosis is higher in the province of Salamanca than in other countries. In most of the cases, the lesions were apparent at birth or shortly after. In 41% of the patients studied by slit-lamp microscopy, posterior embriotoxom was seen. Hyperkeratosis was seen in follicular and sweat duct orifices. Statistical analysis of the pedigrees showed a higher proportion of affected males among the offspring of carriers and also among the offspring of the ichthyotics' sisters. In addition, among the patients' descendants, the higher ratio of females is statistically significant, showing that there is likely to be selection in favour of the X chromosome.
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A male patient is presented is clinical and histopathological characteristics are typical of Ehlers-Danlos Syndrome (cutaneous and articular hyperelasticity and cutaneous fragility with the presence of atrophic scars). Looking into the family history we think that other relatives had the same disease and they had died during their childhood due to internal hemorrhages. The patient we present did not have significant hemorrhages in any moment. The elastic fibers in the dermal papilla are reduced giving rise to the appearance of being increased in the middle and deep dermis.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.