PubMed Health⌕ Search

Biomedical subjects

M Larralde de Luna

Publications and source records attributed to M Larralde de Luna.

7 recordsLinked to original sources
PubMed1992

Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume.

A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms. She also had diffuse, nonscarring alopecia with wiry, dry hair. Results of roentgenographic and ultrasound studies were normal. At her present age of 11 months, her psychomotor development is appropriate for her age.

Female↗
PubMed1990

[Pedal papules in newborn infants].

Four cases of newborn children who presented pedal papules since birth, are reported. They showed the following features, different from the ones seen in adults: a solitary lesion, bigger size, localization on medial plantar region aspect of the heel, presence at birth, absence of an obvious piezogenic factor, physiopathogenic model that explains the development of lesions in adults, which are compared to those appearing in the newborn, are proposed.

Female↗
PubMed1987

Umbilical polyps.

We report three patients, ages 5 years, 3 years, and 4 days, with umbilical polyps. In the third child the polyp was associated with an umbilical enteric fistula. An umbilical polyp is the result of incomplete closure of the omphalomesenteric duct and becomes apparent after the umbilical cord is detached. It is a reddish tumor of a few millimeters; it seldom bleeds or is exudative. We consider it important to study every case in detail in order to exclude possible underlying embryologic anomalies such as Meckel's diverticulum and umbilical enteric fistula.

Abdominal Neoplasms↗
PubMed1987

[Infantile acropustulosis. Considerations on 11 cases].

Eleven patients with infantile acropustulosis, 10 from Mendoza and one from Buenos Aires, are presented. Remarkably was a blood eosinophilia in 4 cases and the prompt improvement with dapsone in 2 cases. The differential diagnosis with other dermatosis, specially with scabies, are discussed.

Diagnosis, Differential↗
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↗
PubMedDate not supplied

Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting.

The name epidermal nevus syndrome could be applied to a group of clinically and histopathologically different entities as has been pointed out by Happle. Phacomatosis pigmentokeratotica is a further type of epidermal nevus syndrome distinguished by the presence of a sebaceous nevus and a contralateral speckled lentiginous nevus of the papular type, associated with skeletal or neurological abnormalities. Three new cases of this recently delineated syndrome are presented. A common origin may account for the temporal and spatial relationship between the epidermal and the speckled lentiginous nevus. The concept of melanocytic-epidermal twin spotting similar to the interpretation of vascular twin spotting could explain the pathogenesis of this entity.

Child↗