疾患詳細

疾患詳細



Kastl I et al. Hereditary palmoplantar keratosis of the Gamborg Nielsen type: clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. Arch. Derm. Res. 282: 363-370, 1990

244850
Keratoderma, palmoplantar, Norrbotten recessive type (PPKNR)

角皮症, 掌蹠, Norrbotten 劣性型

遺伝子座:不明
遺伝形式:常染色体劣性

(症状)
【皮膚】掌蹠角皮症
  正常皮膚への移行を区別する青赤色の境界
 手足足背への過角化症の逸脱 (一部の患者で)
 指趾関節背面のナックルパッド
(皮膚組織) 表皮肥厚, 著明な
 巣状に拡大した顆粒層
 Tonofibrils の増加
 角質層の正過角化症
(電顕) Tonofibrils の増加
 顆粒層の肥厚
 keratohyaline 顆粒の量, サイズおよび電顕構造の多様性
 上顆粒層でのデスモソーム円板 (disks)
【その他】義務的保因者は臨床的には患者ではない

(参照) *148400 (常染色体優性型)
(ノート)
For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200).

Clinical Features
In a study of palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten), Gamborg Nielsen (1985) observed a seemingly recessive and unusually severe form that differed from the picture of mal de Meleda (248300) in 6 patients from 2 families. Affected individuals had a very thick horny layer with a distinct demarcation to normal skin, bordered by a bluish-red zone in 4 patients; in 1 patient the hyperkeratosis extended to the dorsum of the hand. Knuckle pads were found on the dorsal finger joints. Three of the patients had dermatophytosis on their soles, and 1 had mutilating palmoplantar keratoderma.

Kastl et al. (1990) studied 5 patients from 3 Swedish families with diffuse palmoplantar keratoderma. Affected individuals showed a very thick horny layer, with the transition to normal skin distinctly demarcated by a bluish-red border. Some patients exhibited transgression of the hyperkeratoses to the dorsum of the hands and feet. Knuckle pads were present on the dorsal finger and toe joints. Elbows and knees were uninvolved, hair and teeth were normal, and there was no mental retardation. Biopsies of hyperkeratotic skin from the soles of affected individuals showed a highly acanthotic epidermis with a focally broadened granular layer and an increased amount of tonofibrils. Keratohyalin granules were unevenly distributed within the granular cells. Between the granular and horny layers several 'clear cells' were seen, which had a more loosely arranged cell content and lower amount of tonofibrils than the adjacent granular cells. The horny layer was orthohyperkeratotic and there were occasional spinelike protrusions of granular cells into the horny layer. Ultrastructural findings included an increase in the amount of tonofibrils, beginning in the mid-spinous layer and reaching a maximum in the upper stratum granulosum. The granular layer consisted of up to 11 cell layers, with neighboring cells showing considerable variation in amount, size, and ultrastructure of keratohyaline granules. Cells of the granular, transit, and horny layer possessed some lipid droplets, and desmosomes had already transformed into desmosomal discs beginning in the upper granular layers. In addition to lipid droplets, the lower horny cells often contained cell remnants or granular material, and had thickened plasma membranes. The cells themselves were intensely interlocked and thicker than normal, and chains of desmosomal discs could be detected in the intercellular spaces. Skin biopsies from clinically unaffected obligatory heterozygotes showed no changes by light microscropy, but 4 of the 5 individuals examined exhibited ultrastructural alterations, including an unbalanced distribution of tonofibrils within cells of the spinous and granular layers, with differences in amount and aggregation. Variable amounts of keratohyalin were found in the granular layer and the granules showed a spongy texture with different sizes of less electron-dense areas and sometimes a granular border as well.

(文献)
(1) Gamborg Nielsen P: Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden. Clin Genet 28: 361-366, 1985
(2) Kastl, I., Anton-Lamprecht, I., Gamborg Nielsen, P. Hereditary palmoplantar keratosis of the Gamborg Nielsen type: clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. Arch. Derm. Res. 282: 363-370, 1990

2009/07/11
2014/01/11
2014/02/05