L’érythrokératodermie progressive symétrique de Gottron

Minet, Ariane D.; Marcoux, C.

doi:10.1159/000248345

Cited by 4 publications

(6 citation statements)

References 3 publications

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“…Apparently, they are related to the abnormal keranitization and possibly to lipid metabolism disorders believed to play a role in different types of ichthyosis (16,17,18,19). A moderate number of lipid droplets has been found in the horny layer in some earlier reports (1,3,4) but not in all (2,5). Tubular structures in the granular cells, similar to the ones described here, have previously been found in palmoplantar keratoderma (20, 21), as well in some cases of Richner-Hanhart's syndrome (22).…”

Section: Discussionmentioning

confidence: 59%

“…The partial collodium encasement around the distal parts of the hands and feet, found at birth in all 4 patients, has not been mentioned in previously described cases. Otherwise, the clinical phenotype of our family is the same as in earlier descriptions (2,3,(8)(9)(10)(11)(12). In other respects, the skin changes have been similar with symmetric plaques, and with the thorax and abdomen spared (11).…”

Section: Discussionmentioning

confidence: 60%

“…This was seen in the skin of the brothers i'^. 5 A. Intercellulai sp;i{ r IHUVCCII uppermost granular cell (G) and twcj loweiiiiost horny cells (1,2) is filled with unusually large masses of keratinosome-derived lamellae (patient 3) (X15000). li.…”

Section: Discussionmentioning

confidence: 98%

“…The configuration and distribution of the symmetric plaques and follicular hyperkeratosis \vere also similar (Figs. 1,2). The hyperkeratotie surface of the skin formed deep furrows around the "Tiouth and in the axillary folds ( Fig.…”

Section: Case Reportsmentioning

confidence: 98%

“…The small number of studies describing simultaneously the clinical and ultrastructural features of erythrokeratodermias in detail has limited the possibility of defining the criteria of different types of erythrokeratodermias (1)(2)(3)(4). Recently, the existence of erythrokeratodermia variabilis (EKV) and erythrokeratodermia progressiva symmetrica (EKPS) as distinct disease entities has been questioned (5).…”

Section: Introductionmentioning

confidence: 99%

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Histological and ultrastructural study of a family with erythrokeratodermia progressiva symmetrica

Niemi

Kanerva

1993

J Cutan Pathol

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We have examined a family with 4 members in three succeeding generations suffering from a severe keratinization disorder. The clinical phenotype, with symmetric plaques on the extremities, corresponded to erythrokeratodermia progressiva symmetrica. It was manifested at birth, however, and in addition to the hyperkeratotic plaques, follicular hyperkeratosis was also observed. Electron microscopy revealed multiple morphological changes such as myelinated membrane structures, or needles, which were similar to those occurring in ichthyotic disorders and tyrosinemia, as well as in harlequin fetuses, all of which were excluded clinically or biochemically in our patients.

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Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 60%

Section: Discussionmentioning

confidence: 98%

Section: Case Reportsmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Histological and ultrastructural study of a family with erythrokeratodermia progressiva symmetrica

Niemi

Kanerva

1993

J Cutan Pathol

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Clinical, light and electron microscopic features of recessive ichthyosis congenita type III

et al. 1992

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The recessively inherited congenital ichthyoses have ultrastructural features which indicate abnormal epidermal lipid metabolism. The ultrastructural markers of the three recessive congenital ichthyosis groups are lipid droplets in horny layers (type I), cholesterol clefts (type II) and membrane structures (type III). We describe six patients from five families belonging to the last group. The variable clinical phenotype alone does not allow the delineation of this disease, but together with the ultrastructural characteristics the subtype is unequivocal. In addition to the membrane structures, half of the cases showed abnormal keratinosomes and vesicular complexes. Membrane-bound vacuoles and needle-like slits were exceptionally found. The onset of the ichthyosis was variable, in contrast to other patients described under the heading recessive congenital ichthyosis.

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