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At least 1,711 records · Page 95Linked to original sources
PubMed1977

Nosologic groups. An overview.

A general analysis is made of the concept of nosologic groups. It is concluded that, even when 'artificial',they may prove to be useful research, didactic and differential diagnosis purposes. Nosologic groupings must, however, progress toward the finding of 'phenotypic communities' whose component syndromes share multiple foci of dysmorphogenetically intimate phenotypic overlap. The concepts of syndrome, anomalad, association, combination, dysplasia, phenotypic community and family of diseases are briefly analysed.

Abnormalities, Multiple↗
PubMed1989

Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome.

The 5 major cutaneous defects of development found in focal dermal hypoplasia, an ectomesodermal dysplasia syndrome, are: aplasia cutis congenita, multiform atrophy-like areas, striate, papillomatous, and lipomatous lesions of skin. Subepidermal lipomatosis, present in some lesions, has been reported to be due to absence of dermis or a striking underdevelopment of connective tissue with replacement by adipose tissue from herniation of subcutaneous fat through multiple areas of hypoplasia. We believe this theory to be a major error in interpretation of the microscopic findings. We have had the unique experience of studying 2 patients periodically for 27-30 years and 2 additional patients for a shorter time. Biopsy specimens were removed at intervals for analysis from the same or similar lesions (43 specimens) from these 4 individuals. Our evidence strongly supports the concept that the cutaneous defects of development involving fat cells represent heterotopic fat i.e. a fat nevus resulting from dysplasia, not hypoplasia followed by herniation of subcutaneous fat.

Adipose Tissue↗
PubMed2004

Further delineation of the odonto-onycho-dermal dysplasia syndrome.

We report on three boys, two brothers and their maternal cousin, presenting with dry hair, pilar keratosis, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma and hyperhidrosis of palms and soles. Histology of the skin showed orthokeratotic, hyperkeratosis, hypergranulosis, and mild acanthosis in the epidermis. Scanning electron microscopic examination of the hair showed longitudinal depressions in some hair. These features are close to a rare entity: the odonto-onycho-dermal dysplasia but with some differing features.

Abnormalities, Multiple↗