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
Aseptic Meningitis after BNT-162b2 COVID-19 Vaccination: Case Report and Literature Review
Keio J Med. 2023 Sep 23. doi: 10.2302/kjm.2022-0034-CR. Online ahead of print.ABSTRACTWe encountered a-27-year-old female patient who developed refractory severe headache and photophobia after the first dose of COVID-19 vaccine. Despite her prior history of migraine, we diagnosed COVID-19 vaccine-induced aseptic meningitis. Symptoms were significantly resolved after methylprednisolone therapy. On reviewing the literature, we could find only nine similar cases, with over half of them affecting women aged 20-40 years. Although uncommon, aseptic meningitis should be suspected in patients with persistent or delayed onset of he...
Source: The Keio Journal of Medicine - September 24, 2023 Category: Universities & Medical Training Authors: Yuji Kato Takashi Osada Nobuo Araki Shinichi Takahashi Source Type: research
Aseptic Meningitis after BNT-162b2 COVID-19 Vaccination: Case Report and Literature Review
Keio J Med. 2023 Sep 23. doi: 10.2302/kjm.2022-0034-CR. Online ahead of print.ABSTRACTWe encountered a-27-year-old female patient who developed refractory severe headache and photophobia after the first dose of COVID-19 vaccine. Despite her prior history of migraine, we diagnosed COVID-19 vaccine-induced aseptic meningitis. Symptoms were significantly resolved after methylprednisolone therapy. On reviewing the literature, we could find only nine similar cases, with over half of them affecting women aged 20-40 years. Although uncommon, aseptic meningitis should be suspected in patients with persistent or delayed onset of he...
Source: The Keio Journal of Medicine - September 24, 2023 Category: Universities & Medical Training Authors: Yuji Kato Takashi Osada Nobuo Araki Shinichi Takahashi Source Type: research
Aseptic Meningitis after BNT-162b2 COVID-19 Vaccination: Case Report and Literature Review
Keio J Med. 2023 Sep 23. doi: 10.2302/kjm.2022-0034-CR. Online ahead of print.ABSTRACTWe encountered a-27-year-old female patient who developed refractory severe headache and photophobia after the first dose of COVID-19 vaccine. Despite her prior history of migraine, we diagnosed COVID-19 vaccine-induced aseptic meningitis. Symptoms were significantly resolved after methylprednisolone therapy. On reviewing the literature, we could find only nine similar cases, with over half of them affecting women aged 20-40 years. Although uncommon, aseptic meningitis should be suspected in patients with persistent or delayed onset of he...
Source: The Keio Journal of Medicine - September 24, 2023 Category: Universities & Medical Training Authors: Yuji Kato Takashi Osada Nobuo Araki Shinichi Takahashi Source Type: research
Neurofibromatosis 1 (von Recklinghausen Disease)
This article summarizes recent progress in diagnosis, clinical characteristics, and treatment of various manifestations of NF1 and proposes the future direction required to resolve unmet needs in patients with NF1 in Japan.PMID:37635082 | DOI:10.2302/kjm.2023-0013-IR (Source: The Keio Journal of Medicine)
Source: The Keio Journal of Medicine - August 27, 2023 Category: Universities & Medical Training Authors: Yuichi Yoshida Source Type: research
Neurofibromatosis 1 (von Recklinghausen Disease)
This article summarizes recent progress in diagnosis, clinical characteristics, and treatment of various manifestations of NF1 and proposes the future direction required to resolve unmet needs in patients with NF1 in Japan.PMID:37635082 | DOI:10.2302/kjm.2023-0013-IR (Source: The Keio Journal of Medicine)
Source: The Keio Journal of Medicine - August 27, 2023 Category: Universities & Medical Training Authors: Yuichi Yoshida Source Type: research
