Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration
Keio J Med. 2023 Dec 8. doi: 10.2302/kjm.2023-0015-IR. Online ahead of print.ABSTRACTPachyonychia Congenita Project (PC Project) is an international patient advocacy organization dedicated to patients who suffer from pachyonychia congenita (PC). This condition is a painful and debilitating skin disorder caused by a mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16,or KRT17. Through two primary programs, namely the International Pachyonychia Congenita Consortium (IPCC) and the International Pachyonychia Congenita Research Registry (IPCRR), PC Project provides comprehensive patient support and diagnostics whi...
Source: The Keio Journal of Medicine - December 10, 2023 Category: Universities & Medical Training Authors: Janice N Schwartz Holly A Evans Edel A O'toole C David Hansen Source Type: research
Seizure caused by Hypocalcemia as a Rare Manifestation in an Infant with Eosinophilic Gastroenteritis
We report the first case of EGE in an infant who was diagnosed based on seizure. This case shows that infants with EGE may present with seizure resulting from hypocalcemia caused by PLE.PMID:38030301 | DOI:10.2302/kjm.2023-0009-CR (Source: The Keio Journal of Medicine)
Source: The Keio Journal of Medicine - November 29, 2023 Category: Universities & Medical Training Authors: Ryunosuke Sugimoto Tomohiro Inoguchi Aiko Isobe Sachiko Kaburagi Masayuki Akashi Source Type: research
Seizure caused by Hypocalcemia as a Rare Manifestation in an Infant with Eosinophilic Gastroenteritis
We report the first case of EGE in an infant who was diagnosed based on seizure. This case shows that infants with EGE may present with seizure resulting from hypocalcemia caused by PLE.PMID:38030301 | DOI:10.2302/kjm.2023-0009-CR (Source: The Keio Journal of Medicine)
Source: The Keio Journal of Medicine - November 29, 2023 Category: Universities & Medical Training Authors: Ryunosuke Sugimoto Tomohiro Inoguchi Aiko Isobe Sachiko Kaburagi Masayuki Akashi Source Type: research
Seizure caused by Hypocalcemia as a Rare Manifestation in an Infant with Eosinophilic Gastroenteritis
We report the first case of EGE in an infant who was diagnosed based on seizure. This case shows that infants with EGE may present with seizure resulting from hypocalcemia caused by PLE.PMID:38030301 | DOI:10.2302/kjm.2023-0009-CR (Source: The Keio Journal of Medicine)
Source: The Keio Journal of Medicine - November 29, 2023 Category: Universities & Medical Training Authors: Ryunosuke Sugimoto Tomohiro Inoguchi Aiko Isobe Sachiko Kaburagi Masayuki Akashi Source Type: research
Seizure caused by Hypocalcemia as a Rare Manifestation in an Infant with Eosinophilic Gastroenteritis
We report the first case of EGE in an infant who was diagnosed based on seizure. This case shows that infants with EGE may present with seizure resulting from hypocalcemia caused by PLE.PMID:38030301 | DOI:10.2302/kjm.2023-0009-CR (Source: The Keio Journal of Medicine)
Source: The Keio Journal of Medicine - November 29, 2023 Category: Universities & Medical Training Authors: Ryunosuke Sugimoto Tomohiro Inoguchi Aiko Isobe Sachiko Kaburagi Masayuki Akashi Source Type: research
Seizure caused by Hypocalcemia as a Rare Manifestation in an Infant with Eosinophilic Gastroenteritis
We report the first case of EGE in an infant who was diagnosed based on seizure. This case shows that infants with EGE may present with seizure resulting from hypocalcemia caused by PLE.PMID:38030301 | DOI:10.2302/kjm.2023-0009-CR (Source: The Keio Journal of Medicine)
Source: The Keio Journal of Medicine - November 29, 2023 Category: Universities & Medical Training Authors: Ryunosuke Sugimoto Tomohiro Inoguchi Aiko Isobe Sachiko Kaburagi Masayuki Akashi Source Type: research
Seizure caused by Hypocalcemia as a Rare Manifestation in an Infant with Eosinophilic Gastroenteritis
We report the first case of EGE in an infant who was diagnosed based on seizure. This case shows that infants with EGE may present with seizure resulting from hypocalcemia caused by PLE.PMID:38030301 | DOI:10.2302/kjm.2023-0009-CR (Source: The Keio Journal of Medicine)
Source: The Keio Journal of Medicine - November 29, 2023 Category: Universities & Medical Training Authors: Ryunosuke Sugimoto Tomohiro Inoguchi Aiko Isobe Sachiko Kaburagi Masayuki Akashi Source Type: research
Seizure caused by Hypocalcemia as a Rare Manifestation in an Infant with Eosinophilic Gastroenteritis
We report the first case of EGE in an infant who was diagnosed based on seizure. This case shows that infants with EGE may present with seizure resulting from hypocalcemia caused by PLE.PMID:38030301 | DOI:10.2302/kjm.2023-0009-CR (Source: The Keio Journal of Medicine)
Source: The Keio Journal of Medicine - November 29, 2023 Category: Universities & Medical Training Authors: Ryunosuke Sugimoto Tomohiro Inoguchi Aiko Isobe Sachiko Kaburagi Masayuki Akashi Source Type: research
Seizure caused by Hypocalcemia as a Rare Manifestation in an Infant with Eosinophilic Gastroenteritis
We report the first case of EGE in an infant who was diagnosed based on seizure. This case shows that infants with EGE may present with seizure resulting from hypocalcemia caused by PLE.PMID:38030301 | DOI:10.2302/kjm.2023-0009-CR (Source: The Keio Journal of Medicine)
Source: The Keio Journal of Medicine - November 29, 2023 Category: Universities & Medical Training Authors: Ryunosuke Sugimoto Tomohiro Inoguchi Aiko Isobe Sachiko Kaburagi Masayuki Akashi Source Type: research
Seizure caused by Hypocalcemia as a Rare Manifestation in an Infant with Eosinophilic Gastroenteritis
We report the first case of EGE in an infant who was diagnosed based on seizure. This case shows that infants with EGE may present with seizure resulting from hypocalcemia caused by PLE.PMID:38030301 | DOI:10.2302/kjm.2023-0009-CR (Source: The Keio Journal of Medicine)
Source: The Keio Journal of Medicine - November 29, 2023 Category: Universities & Medical Training Authors: Ryunosuke Sugimoto Tomohiro Inoguchi Aiko Isobe Sachiko Kaburagi Masayuki Akashi 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
