ISSN:
1432-069X
Keywords:
Lamellar ichthyosis
;
Autosomal-dominant inheritance
;
Ultrastructure
;
Transforming cells
;
Genetic counselling
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary Recently, autosomal-dominant lamellar ichthyosis (ADLI) has been shown to be a new genetic trait with clinical and histologic features similar to those of autosomal-recessive lamellar ichthyosis. In two patients affected with ADLI, the malpighian keratinocytes showed ultrastructural signs of increased cellular metabolism. The tonofilaments and keratohyaline granules were regular in structure and number. However, as a distinctive ultrastructural feature, a prominent transforming zone was found between the granular and horny layers. Moreover, a normal keratin pattern and only a limited number of lipid inclusions were observed in the stratum corneum. Thus, ADLI can be distinguished from the autosomal-recessive forms of lamellar ichthyosis, permitting a correct diagnosis when genetic counselling has to be given in sporadic cases.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00412487
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