Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
Pachyonychia Congenita: Clinical Features and Future Treatments
Keio J Med. 2023 Sep 28. doi: 10.2302/kjm.2023-0012-IR. Online ahead of print.ABSTRACTPachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and add...
Source: The Keio Journal of Medicine - September 28, 2023 Category: Universities & Medical Training Authors: Rebecca L Mccarthy Marianne De Brito Edel O'toole Source Type: research
