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Biomedical subjects

A M Pierini

Publications and source records attributed to A M Pierini.

14 recordsLinked to original sources
PubMed1985

[Angiokeratoma corporis diffusum (Fabry's disease). Update. Apropos of 2 cases].

Fabry's disease (angiokeratoma corporis diffusum) is an X-linked recessive inherited metabolic defect due to the lack of the enzyme alpha-galactosidase A. We reviewed the Argentine literature on the subject, the main features of the disease and its differential diagnosis. Two patients aged ten and fifteen are described showing the characteristic clinical picture of the disease since ages four and nine respectively. Skin and conjunctival ultrastructural studies showed intracytoplasmatic granules with a lamellar appearance in the endothelial cells, pericytes and fibroblasts. Plasma levels of alpha-galactosidase activity were sharply decreased in the two patients studied and partially decreased in their heterozygous mothers.

Adolescent↗
PubMed1981

[Mastocytosis evolving into anetoderma. Review of the literature (author's transl)].

The authors reviewed the literature of cases of mastocytosis with either anetoderma or pseudo-pelade. They studied the different substances in the secretions of mastocytes which could have an effect on collagen and elastic fibres. They supported the theory that there is a susceptible connective tissue. They stressed the underestimation of these associated features of mastocytosis.

Adolescent↗
PubMed1981

[Does linear psoriasis exist? (author's transl)].

A child had both a congenital nevus unius lateris and a linear psoriasis of recent onset which first appeared localized to the nevus, and later became generalized. Histology of the psoriatic lesion overlying the nevus revealed the typical features of psoriasis and epidermolytic hyperkeratosis. Psoriasis and nevus have both disappeared with Ro 10.9359 therapy. Five similar cases of psoriasis overlying an epidermal nevus have been found in the literature. The epidermal nevus is a fertile site for the development of psoriatic lesions in a predisposed person. It is an example of the Köbner phenomenon. A wider definition of this phenomenon is suggested. The features of linear psoriasis are studied and we now believe that true linear psoriasis is not a distinct clinical entity and that previously reported cases correspond in fact to an inflammatory linear verrucous epidermal nevus (ILVEN).

Child↗
PubMed1981

[Cutaneous manifestations of McCune-Albright syndrome: report of a case (author's transl)].

An 11-year-old boy with fibrous dysplasia of bone of the McCune-Albright syndrome type led to a search of the literature for reports of cutaneous signs other than hyperpigmented macules. We have found descriptions of patchy alopecia, verrucous nevi, soft tissue tumours and other cutaneous abnormalities associated with the McCune-Albright syndrome. Our patient presented in addition pili torti, dermal cysts and a pre-auricular appendix which are all signs not previously described in this syndrome. Our observation is in keeping with the hypothesis that there is a congenital ectodermal and mesodermal mal development to account for this polydysplasia.

Alopecia↗
PubMed1980

[Transient eosinophilic nodulomatosis (author's transl)].

The case report describes a boy of six years presenting with asymptomatic nodules, asymmetrically distributed over the whole body. The lesions came in crops. Each lesion evolved over approximately 3 weeks and they healed without sequelae. The only other clinical feature was the presence of generalized lymphadenopathy. Histologically, the lesion was essentially dermal and composed by a diffuse cellular infiltrate predominantly made of eosinophils, mixed with a few normal histiocytes. The latter did not show any typical Langerhans granules. Various disorders featuring either nodules or eosinophilic infiltrates, or both, are discussed. Taking together all the clinical and histological data, it is reasonable to suggest that this disorder of transient eosinophilic nodulomatosis is not a well-defined entity and remains without a definite etiology.

Child↗