PubMed Health⌕ Search

Biomedical subjects

Manuel Ginarte

Publications and source records attributed to Manuel Ginarte.

13 recordsLinked to original sources
PubMed2007

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited condition that includes characteristic eyelid malformations and sometimes reduced fertility in females. Genetic studies have implicated mutations in the forkhead transcription factor FOXL2 as responsible for BPES. We report a female and her father with BPES type I, who presented the 1092-1108dup17 mutation in the FOXL2 gene. Molecular studies and the typical clinical features of BPES should allow the dermatologist to reach an early diagnosis and permit the treatment of eyelid alterations and the investigation of infertility.

Adult↗
PubMed2005

[Clinically-amyopathic dermatomyositis: presentation of three cases].

Dermatomyositis is a connective tissue disease which has several factors involved in its etiology. Recently, the existence of a sub-type called amyopathic dermatomyositis has been accepted, whose cutaneous manifestations are indistinguishable from the ones that appear in the classic form of the disease. However, it is different from the classic form in that clinical findings of muscular involvement are initially absent. The association of these two sets of symptoms with the possible presence of an underlying neoplastic process has been described on numerous occasions, and has been the subject of extensive debate. We present three patients with amyopathic dermatomyositis, two males aged 27 and 45 and a female aged 54, the latter associated with a malignant process, and we discuss and review the main differential features of the entity and its relationship with different types of neoplasms.

Adult↗
PubMed2003

Imported paracoccidioidomycosis in Spain.

The report deals with three patients, who developed paracoccidioidomycosis in Europe after having been in South America 50, 25 and 38 years before, respectively. The conditions for the long period of quiescent infection and for the late manifestations are discussed.

Aged↗
PubMedDate not supplied

[Poroid hidradenoma].

Poroid hidradenoma is a recently described variant of eccrine poroma. This neoplasm presents structural findings of hidradenoma (solid and cystic areas) and cytological characteristics of poromas (poroid and cuticular cells, the latter showing ductal differentiation). We present a case of poroid hidradenoma in a 74-year-old woman, who consulted her physician because of a nodular lesion on the left buttock.

Acrospiroma↗
PubMedDate not supplied

Reticular erythematous mucinosis (REM) with telangiectasias associated with essential thrombocytosis and lung carcinoma.

The cutaneous mucinoses are a heterogeneous group of diseases in which mucin accumulates in the skin. Reticular erythematous mucinosis (REM) is an infrequent variant. We present a 48-year-old man with essential thrombocytosis and REM lesions with atypical telangiectasias on his chest, who developed a non-small cell lung carcinoma. We discuss the unusual clinical finding of telangiectasias over REM lesions and the association with essential thrombocytosis and lung carcinoma.

Biopsy, Needle↗
PubMedDate not supplied

Disseminated superficial porokeratosis with amyloid deposits.

We report a 65-year-old Caucasian man who exhibited a disseminated superficial porokeratosis. Histological examination with haematoxylin and eosin stain revealed the presence of dermal deposits of an eosinophilic amorphous material that stained positively with crystal violet and showed bright yellow fluorescence with thioflavin-T under the polarizing microscopy, indicating that it was amyloid. Colloid bodies from porokeratotic lesions can degenerate into amyloid, but it is not usually detected with haematoxylin and eosin stains because of its small quantity. Probably amyloid deposits could be detected more frequently in porokeratosis if histochemical techniques were carried out in a routine way.

Aged↗