Nagashima-Type Palmoplantar Keratosis with Uncommon Homozygous Frameshift Mutations in SERPINB7

Authors

  • Nakarin Sivapornpan DIVISION OF DERMATOLOGY, DEPARTMENT OF INTERNAL MEDICINE, FACULTY OF MEDICINE, THAMMASAT UNIVERSITY, PATHUMTHANI, THAILAND.
  • Padcha Pongchalearn DIVISION OF DERMATOLOGY, DEPARTMENT OF INTERNAL MEDICINE, FACULTY OF MEDICINE, THAMMASAT UNIVERSITY, PATHUMTHANI, THAILAND.
  • Kitiwan Rojnueangnit DIVISION OF GENETICS, DEPARTMENT OF PEDIATRICS, FACULTY OF MEDICINE, THAMMASAT UNIVERSITY, PATHUMTHANI, THAILAND.
  • Wuttichart Kamolvisit CENTER OF EXCELLENCE FOR MEDICAL GENOMICS, MEDICAL GENOMICS CLUSTER, DEPARTMENT OF PEDIATRICS, FACULTY OF MEDICINE, CHULALONGKORN UNIVERSITY, BANGKOK, THAILAND.

Keywords:

Nagashima type, palmoplantar keratosis, SERPINB7, autosomal recessive

Abstract

Nagashima-type palmoplantar keratosis (NPPK, MIM6155998) is a non-epidermolytic, non-progressive, non-syndromic (isolated),   diffuse palmoplantar  keratosis  inherited  by autosomal  recessive pattern. It is characterized by diffuse, erythematous palmoplantar hyperkeratosis that extends to the dorsal surfaces of hands, feet, inner wrists, ankles, and Achilles tendon area. Loss-of-function mutations in SERPINB7 have been identified as a cause of NPPK. Here, we report a Chinese male with NPPK, confirmed as having one basepair duplication at nucleotide 522 (c.522dupT), likely homozygous variant, which created a shift in the reading frame and expected to result in a prematurely truncated protein (p.Val175Cysfs*46) in SERPINB7. We review the genomic structure of SERPINB7 and all probable mutations.

References

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Published

2022-03-21

How to Cite

Sivapornpan, N., Pongchalearn, P., Rojnueangnit, K., & Kamolvisit, W. (2022). Nagashima-Type Palmoplantar Keratosis with Uncommon Homozygous Frameshift Mutations in SERPINB7. Thai Journal of Dermatology, 38(1), 36–43. Retrieved from https://he02.tci-thaijo.org/index.php/TJD/article/view/254776

Issue

Vol. 38 No. 1 (2022): January - March

Section

Case Report

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Copyright (c) 2022 Thai Journal of Dermatology

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เนื้อหาและข้อมูลในบทความที่ลงตีพิมพ์ในวารสารโรคผิวหนัง ถือเป็นข้อคิดเห็นและความรับผิดชอบของผู้เขียนบทความโดยตรงซึ่งกองบรรณาธิการวารสาร ไม่จำเป็นต้องเห็นด้วย หรือร่วมรับผิดชอบใดๆ

บทความ ข้อมูล เนื้อหา รูปภาพ ฯลฯ ที่ได้รับการตีพิมพ์ในวารสารโรคผิวหนัง ถือเป็นลิขสิทธิ์ของวารสารฯ หากบุคคลหรือหน่วยงานใดต้องการนำทั้งหมดหรือส่วนหนึ่งส่วนใดไปเผยแพร่ต่อหรือเพื่อกระทำการใดๆ จะต้องได้รับอนุญาตเป็นลายลักอักษรจากบรรณาธิการวารสารโรคผิวหนังก่อนเท่านั้น