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Biomedical subjects

R M Pujol

Publications and source records attributed to R M Pujol.

85 records · Page 5Linked to original sources
PubMed1987

Localized pili canaliculi and trianguli.

A 3-year-old boy presented two patches of light, bright, smooth, uncombable hair that were morphologically different from the rest of the hairs. Examination under scanning electron microscopy showed the morphologic characteristics of pili canaliculi and trianguli. Clinical and ultrastructural features seemed to correspond with a previously undescribed localized form of pili canaliculi et trianguli. Differential diagnosis is discussed.

Child, Preschool↗
PubMed1987

[Segmental neurofibromatosis].

Two additional cases of segmental neurofibromatosis (type V) are reported. This form of neurofibromatosis is manifested by neurofibromas or cafe-au-lait spots in a dermatomal or segmental distribution. Previously reported cases are reviewed. Their clinical manifestations, prognosis and the relationship between the classical neurofibromatosis and segmentary neurofibromatosis are discussed.

Adult↗
PubMed1987

[Linear sebaceous nevus syndrome].

We report a patient that fulfills the clinical features of the linear nevus sebaceous syndrome. This syndrome was defined by the triad: Linear nevus sebaceous, seizures and mental retardation. Further descriptions suggested an association with hamartomas of mesenchymal structures and increased risk of neoplasm transformation. Previously reported cases are reviewed. The complexity of classification of this neurocutaneous syndrome is discussed.

Facial Neoplasms↗
PubMed1987

[Ito's hypomelanosis].

Three additional cases of hypomelanosis of Ito (HI) are reported. HI is a syndrome manifested by irregular macular hypopigmented lesions, resembling the negative image of incontinentia pigmenti. Their cutaneous manifestations, associated abnormalities and the peculiar characteristics of the reported cases are discussed.

Adolescent↗
PubMedDate not supplied

Type IV Ehlers-Danlos syndrome with platelet delta-storage pool disease.

A case of type IV Ehlers-Danlos syndrome with a partial platelet delta-storage pool disease is reported. The diagnosis of Ehlers-Danlos was clinical. The platelet-dense granule deficiency was determined by ultrastructural platelet morphology. Dense bodies were decreased in number, and most showed loss or fragmentation of electron-dense material. Aggregation studies revealed a retarded response to ristocetin and arachidonic acid, which was corrected with desmopressin acetate-DDAVP.

Blood Platelet Disorders↗