558 results match your criteria: "Pachyonychia Congenita"
The variant c.274A>G (p.Asn92Asp) in in a patient with pachyonychia congenita and a novel clinical feature of acne inversa.
Front Genet
November 2024
Department of Dermatology, The Union Hospital, Fujian Medical University, Fuzhou, China.
Introduction: The occurrence of pachyonychia congenita (PC) and acne inversa (AI) may be related to gene mutations. The aim of this study is to identify the genetic cause in a patient with PC and AI, and to explore the possible molecular mechanism of their co-occurrence.
Methods: The clinical data of the proband were collected, and the genomic DNA of the proband and unaffected parents were extracted.
Non-pachyonychia congenita conditions in the International Pachyonychia Congenita Research Registry.
Int J Dermatol
November 2024
Pachyonychia Congenita Project, Salt Lake City, Utah, USA.
Celebrating 20 Years of the International Pachyonychia Congenita Consortium.
J Invest Dermatol
October 2024
Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Tel-Aviv University, Tel Aviv, Israel.
Prevalence and Patient Characteristics of Pachyonychia Congenita.
JAMA Dermatol
December 2024
Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark.
Pachyonychia Congenita: A Rare Disorder of Keratinization.
Indian Pediatr
October 2024
Department of Dermatology and STD, University College of Medical Sciences and GTB Hospital, Delhi, India.
Rare clinical image on steatocystoma multiplex in scrotum region.
Pan Afr Med J
September 2024
Department of Obstetrics and Gynaecological Nursing, Smt. Radhikabai Meghe Memorial College of Nursing, Sawangi (Meghe), Wardha, India.
Pachyonychia congenita: Spectrum of cutaneous disease.
J Am Acad Dermatol
November 2024
Department of Dermatology, Weill Cornell Medicine, New York, New York. Electronic address:
Pachyonychia congenita: A father and son with a novel variant in the KRT16 gene.
Pediatr Dermatol
July 2024
Ho Chi Minh City Hospital of Dermato-Venereology, Ho Chi Minh City, Vietnam.
Article Synopsis
- - This study highlights the importance of recognizing the signs of pachyonychia congenita (PC) and understanding its genetic inheritance patterns.
- - A 12-month-old boy diagnosed with PC, showcasing symptoms like a "white hairy tongue," was found to have a similar condition in his father.
- - Genetic testing revealed a new pathogenic variant (c.616 T>G) in both the boy and his father, contributing to the understanding of PC's genetic diversity.
A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology.
J Dermatol
August 2024
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Congenital nail abnormalities.
Hand Surg Rehabil
April 2024
Department of Pediatric Orthopedics, Armand Trousseau Hospital - Sorbonne University, 26 Avenue du Dr Arnold Netter, 75012 Paris, France. Electronic address:
Article Synopsis
- Most cases resolve naturally with growth and don’t need treatment, so doctors should reassure parents instead.
- Common conditions include syndactyly and thumb duplication, with treatment mostly involving surgery; however, nail problems can also indicate systemic diseases, warranting careful evaluation.
Pain Hypersensitivity in SLURP1 and SLURP2 Knock-out Mouse Models of Hereditary Palmoplantar Keratoderma.
J Neurosci
July 2024
Department of Neurosurgery, Neurosurgery Pain Research Institute, Johns Hopkins School of Medicine, Baltimore, Maryland 21205
Article Synopsis
- SLURP1 and SLURP2 are proteins linked to a skin condition called Mal de Meleda (MdM), which causes painful thickening of skin on the palms and soles due to genetic mutations.
- Mouse models lacking SLURP1 or SLURP2 exhibit similar skin thickening and show increased pain sensitivity to touch and temperature.
- The study found that these mice have changes in skin immune response and nerve activity, suggesting they could help in developing treatments for pain related to this skin condition.
Pachyonychia congenita: pathogenesis of pain and approaches to treatment.
Clin Exp Dermatol
November 2024
Centre for Cell Biology and Cutaneous Research, Blizard Institute, The Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.
Article Synopsis
- Pachyonychia congenita is a genetic skin disorder that is autosomal dominant, leading to severe foot pain, thickened skin on palms and soles, and nail problems.
- The chronic pain from this condition can greatly reduce a person's quality of life, and current treatment options mainly involve lifestyle changes and some mechanical methods, with only a few patients finding relief from oral medications like retinoids.
- This review explores the causes of pain associated with pachyonychia congenita and discusses existing and potential future treatments.
Mutation p.Arg127Pro in the 1A Domain of KRT16 Causes Pachyonychia Congenita in Chinese Patient: A Case Report of PC Associated with Acral Melanoma.
Clin Cosmet Investig Dermatol
May 2024
Department of Dermatology, The First Affiliated Hospital of Huzhou University, Huzhou, Zhejiang, People's Republic of China.
Article Synopsis
- Pachyonychia congenita (PC) is a rare genetic disorder marked by thickened nails and skin problems on the feet, caused by mutations in specific keratin genes.
- A study focused on a Chinese family with PC who had severe palmoplantar keratoderma and a new case of acral melanoma, involved genetic testing to find the underlying mutation.
- Researchers discovered a new mutation in the KRT16 gene (p.Arg127Pro) in the affected patient, which has previously been seen in Dutch patients with PC, but this is the first report in a Chinese individual.
A Rare Case of Pachyonychia Congenita and the Need for Awareness.
Balkan Med J
July 2024
Department of Dermatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
A cross-sectional study of erythromelalgia in patients with pachyonychia congenita.
Br J Dermatol
July 2024
Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.
A novel heterozygous frameshift mutation in the gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature.
Heliyon
March 2024
Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, China.
Article Synopsis
- Pachyonychia congenita is a rare genetic skin disorder that presents symptoms like thickened nails, palmoplantar keratoderma, and oral leukokeratosis, often caused by mutations in keratin genes.
- A case study focused on a 9-year-old girl revealed a de novo heterozygous frameshift mutation in one of the keratin genes, specifically linked to her symptoms.
- This research helps expand understanding of genetic mutations related to pachyonychia congenita and has implications for future genetic counseling and potential gene therapy.
Multiple human papillomavirus-associated plantar epidermoid cysts.
Eur J Dermatol
December 2023
Department of Dermatology, Japanese Red Cross Saitama Hospital, Saitama, Japan.
Increase in melanoma knowledge in Latino patients after a targeted digital educational program.
JAAD Int
March 2024
Department of Dermatology, Mayo Clinic, Scottsdale, Arizona.
Surgical Management of Pachyonychia Congenita in a 3-Year-Old.
Arch Plast Surg
November 2023
Division of Plastic Surgery, Department of Surgery, The University of Utah Hospital, Salt Lake City, Utah.
Article Synopsis
- Pachyonychia congenita is a rare genetic disorder that causes thickened nails and can affect hand and foot function and appearance.
- The study involved treating a 3-year-old boy with different surgical techniques to determine the most effective method for managing the condition.
- Results showed that complete excision of certain nail matrices (GME + cSME) prevented nail growth recurrence, suggesting it might be a definitive treatment, but more research is needed to confirm this.
Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.
J Invest Dermatol
April 2024
Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, School of Medicine, Tel-Aviv University, Tel Aviv, Israel. Electronic address:
Article Synopsis
- Pachyonychia congenita (PC) is a rare genetic disorder characterized by abnormal skin cornification and is inherited in a dominant fashion.
- It has attracted significant research attention over the past 20 years, largely due to efforts from the Pachyonychia Congenita Project, a patient support organization.
- The article discusses ongoing research in PC, potential benefits for managing other diseases, and challenges facing these initiatives.
A recurrent missense mutation in the KRT16 gene causing pachyonychia congenita in a patient.
Int J Dermatol
February 2024
Department of Dermatology, Chongqing Hospital of Traditional Chinese Medicine (Chongqing Clinical Research Center for Dermatology, Chongqing Key Laboratory of Integrative Dermatology Research), District Yuzhong, Chongqing, PR China, Chongqing, P.R. China.
Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration.
Keio J Med
December 2023
Pachyonychia Congenita Project, Salt Lake City, Utah, USA.
Article Synopsis
- The Pachyonychia Congenita Project (PC Project) is a global advocacy group focused on helping individuals with pachyonychia congenita, a painful skin disorder caused by mutations in specific keratin genes.
- The organization runs two key programs: the International Pachyonychia Congenita Consortium (IPCC) and the International Pachyonychia Congenita Research Registry (IPCRR), which provide support and diagnostic services for patients.
- The PC Project aims to connect patients, researchers, medical professionals, and industry partners to promote research and development for effective treatments and potential cures for pachyonychia congenita.
Successful treatment of pachyonychia congenita with simvastatin.
J Eur Acad Dermatol Venereol
April 2024
Department of Dermatology and Venereology, Hamad Medical Corporation, Doha, Qatar.
The Pachyonychia Congenita Virtual Support Group Meeting: Patient Insights and Pearls.
J Am Podiatr Med Assoc
November 2023
†Stony Brook Medicine, Stony Brook, NY.
Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases.
Curr Opin Cell Biol
December 2023
Center for Advanced Biotechnology and Medicine, Rutgers University, Piscataway, NJ, USA. Electronic address:
Article Synopsis
- - The keratin cytoskeleton is essential for protecting epithelial cells from various stresses and is involved in important signaling pathways that help maintain cell integrity and resilience.
- - Mutations in keratin genes can lead to rare skin diseases known as keratinopathies, such as Epidermolysis Bullosa Simplex and Pachyonychia Congenita, for which treatment options are currently limited.
- - Recent high-throughput drug screening has discovered existing medications that can be repurposed to target specific modifications in keratins, potentially improving treatment effectiveness and reducing side effects for those with these keratin-related diseases.