Literature DB >> 1137423

Acral keratoderma.

L T Nesbitt, H Rothschild, H Ichinose, W Stein, L Levy.   

Abstract

Three siblings displayed an unusual form of keratoderma characterized by diffuse and striate hyperkeratosis of the palms and soles, hyperkeratotic plaques over the dorsum of the hands and toes, and linear hyperkeratotic lesions over the Achilles tendon area, ankles, elbows, and knees. The predominant location of these lesions led to the term acral keratoderma for this disorder. Histologically, besides thickening of all epidermal layers with that of the stratum corneum being most notable, various dyskeratotic changes were evident in the epidermis. Pedigree analysis of the family suggested an autosomal recessive inheritance pattern. There were similarities and differences between the type of keratoderma displayed by these three patients and that of patients described previously with the disorder known as keratoma hereditarium mutilans.

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Year:  1975        PMID: 1137423

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN: 0003-987X


  1 in total

1.  Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.

Authors:  Akiharu Kubo; Aiko Shiohama; Takashi Sasaki; Kazuhiko Nakabayashi; Hiroshi Kawasaki; Toru Atsugi; Showbu Sato; Atsushi Shimizu; Shuji Mikami; Hideaki Tanizaki; Masaki Uchiyama; Tatsuo Maeda; Taisuke Ito; Jun-ichi Sakabe; Toshio Heike; Torayuki Okuyama; Rika Kosaki; Kenjiro Kosaki; Jun Kudoh; Kenichiro Hata; Akihiro Umezawa; Yoshiki Tokura; Akira Ishiko; Hironori Niizeki; Kenji Kabashima; Yoshihiko Mitsuhashi; Masayuki Amagai
Journal:  Am J Hum Genet       Date:  2013-10-24       Impact factor: 11.025

  1 in total

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