Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin
Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown...
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Format: | Article |
Language: | English |
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Karger Publishers
2015-08-01
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Series: | Case Reports in Dermatology |
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Online Access: | http://www.karger.com/Article/FullText/438920 |
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author | Fahad Almutawa Thusanth Thusaringam Kevin Watters Tenzin Gayden Nada Jabado Denis Sasseville |
author_facet | Fahad Almutawa Thusanth Thusaringam Kevin Watters Tenzin Gayden Nada Jabado Denis Sasseville |
author_sort | Fahad Almutawa |
collection | DOAJ |
description | Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a favorable response to oral acitretin. Case: A 49-year-old male presented with diffuse and striate palmoplantar keratoderma, thickened nails, knuckle pads, and pseudoainhum. Histology showed compact hyperkeratosis, prominent irregular acanthosis, and extensive epidermolytic hyperkeratosis, suggestive of Vörner's palmoplantar keratoderma. However, keratin 9 and 1 were not mutated, and full exome sequencing showed heterozygous missense mutation in type I keratin K16. Conclusion: To our knowledge, epidermolytic hyperkeratosis has not been previously described with PC. Our patient had an excellent response, maintained over the last 5 years, to a low dose of acitretin. We wish to emphasize the crucial role of whole exome sequencing in establishing the correct diagnosis. |
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id | doaj.art-fead9c68fd794d83acb42b1837fff217 |
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issn | 1662-6567 |
language | English |
last_indexed | 2024-04-12T03:05:38Z |
publishDate | 2015-08-01 |
publisher | Karger Publishers |
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series | Case Reports in Dermatology |
spelling | doaj.art-fead9c68fd794d83acb42b1837fff2172022-12-22T03:50:32ZengKarger PublishersCase Reports in Dermatology1662-65672015-08-017222022610.1159/000438920438920Pachyonychia Congenita (K16) with Unusual Features and Good Response to AcitretinFahad AlmutawaThusanth ThusaringamKevin WattersTenzin GaydenNada JabadoDenis SassevilleBackground: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a favorable response to oral acitretin. Case: A 49-year-old male presented with diffuse and striate palmoplantar keratoderma, thickened nails, knuckle pads, and pseudoainhum. Histology showed compact hyperkeratosis, prominent irregular acanthosis, and extensive epidermolytic hyperkeratosis, suggestive of Vörner's palmoplantar keratoderma. However, keratin 9 and 1 were not mutated, and full exome sequencing showed heterozygous missense mutation in type I keratin K16. Conclusion: To our knowledge, epidermolytic hyperkeratosis has not been previously described with PC. Our patient had an excellent response, maintained over the last 5 years, to a low dose of acitretin. We wish to emphasize the crucial role of whole exome sequencing in establishing the correct diagnosis.http://www.karger.com/Article/FullText/438920Exome sequencingPachyonychia congenitaPalmoplantar keratoderma |
spellingShingle | Fahad Almutawa Thusanth Thusaringam Kevin Watters Tenzin Gayden Nada Jabado Denis Sasseville Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin Case Reports in Dermatology Exome sequencing Pachyonychia congenita Palmoplantar keratoderma |
title | Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin |
title_full | Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin |
title_fullStr | Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin |
title_full_unstemmed | Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin |
title_short | Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin |
title_sort | pachyonychia congenita k16 with unusual features and good response to acitretin |
topic | Exome sequencing Pachyonychia congenita Palmoplantar keratoderma |
url | http://www.karger.com/Article/FullText/438920 |
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