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Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

Almutawa F, Thusaringam T, Watters K, Gayden T, Jabado N, Sasseville D - Case Rep Dermatol (2015)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medicine, Faculty of Medicine, Kuwait University, Jabriya, Kuwait.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus

Healing of fissures and reduction of the hyperkeratosis after 6 months of treatment with acitretin 20 mg daily.
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Figure 4: Healing of fissures and reduction of the hyperkeratosis after 6 months of treatment with acitretin 20 mg daily.

Mentions: The patient was treated with acitretin 10 mg once a day for 1 month and tolerated the medication well. The dose was then increased to twice a day. He responded well, with a reduction of the hyperkeratosis in both palms and soles, healing of the fissures (fig. 4), loosening of the pseudoainhum, as well as with improved mobility and dexterity, which have been maintained over the last 5 years.


Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

Almutawa F, Thusaringam T, Watters K, Gayden T, Jabado N, Sasseville D - Case Rep Dermatol (2015)

Healing of fissures and reduction of the hyperkeratosis after 6 months of treatment with acitretin 20 mg daily.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4592507&req=5

Figure 4: Healing of fissures and reduction of the hyperkeratosis after 6 months of treatment with acitretin 20 mg daily.
Mentions: The patient was treated with acitretin 10 mg once a day for 1 month and tolerated the medication well. The dose was then increased to twice a day. He responded well, with a reduction of the hyperkeratosis in both palms and soles, healing of the fissures (fig. 4), loosening of the pseudoainhum, as well as with improved mobility and dexterity, which have been maintained over the last 5 years.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medicine, Faculty of Medicine, Kuwait University, Jabriya, Kuwait.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus