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Indian Journal of Pediatrics Mar 2024
Topics: Humans; Pachyonychia Congenita
PubMed: 37289311
DOI: 10.1007/s12098-023-04567-z -
The Journal of Investigative Dermatology Apr 2024Pachyonychia congenita (PC) is a dominantly inherited genetic disorder of cornification. PC stands out among other genodermatoses because despite its rarity, it has been... (Review)
Review
Pachyonychia congenita (PC) is a dominantly inherited genetic disorder of cornification. PC stands out among other genodermatoses because despite its rarity, it has been the focus of a very large number of pioneering translational research efforts over the past 2 decades, mostly driven by a patient support organization, the Pachyonychia Congenita Project. These efforts have laid the ground for innovative strategies that may broadly impact approaches to the management of other inherited cutaneous and noncutaneous diseases. This article outlines current avenues of research in PC, expected outcomes, and potential hurdles.
Topics: Humans; Pachyonychia Congenita; Keratoderma, Palmoplantar; Administration, Cutaneous; Apoptosis; Cell Differentiation; Mutation
PubMed: 38099888
DOI: 10.1016/j.jid.2023.10.030 -
Journal of the American Academy of... Oct 1988Pachyonychia congenita is a rare hereditary disorder characterized mainly by nail hypertrophy and dyskeratoses of skin and mucous membranes. A thorough literature survey... (Review)
Review
Pachyonychia congenita is a rare hereditary disorder characterized mainly by nail hypertrophy and dyskeratoses of skin and mucous membranes. A thorough literature survey since its first description in 1904 up to 1985 revealed 168 cases of pachyonychia congenita. There were no indications of any sex or ethnic group predilection. Based on this survey the following classification is suggested: type I (56.2% of cases), hyperkeratosis of nails, palmoplantar keratosis, follicular keratosis, and oral leukokeratosis; type II (24.9% of cases), clinical findings of type I plus bullae of palms and soles, palmar and plantar hyperhidrosis, natal or neonatal teeth, and steatocystoma multiplex; type III (11.7% of cases), clinical findings of types I and II plus angular cheilosis, corneal dyskeratosis, and cataracts; and type IV (7.2% of cases), clinical findings of types I, II, and III plus laryngeal lesions, hoarseness, mental retardation, hair anomalies, and alopecia.
Topics: Humans; Leukoplakia; Nail Diseases; Skin Diseases
PubMed: 3053803
DOI: 10.1016/s0190-9622(88)70226-1 -
The British Journal of Dermatology Mar 2020
Topics: Humans; Pachyonychia Congenita; Rare Diseases; Skin; Skin Diseases
PubMed: 32107781
DOI: 10.1111/bjd.18817 -
The British Journal of Dermatology Mar 2020
Topics: Botulinum Toxins; Clinical Protocols; Humans; Ichthyosis; Keratoderma, Palmoplantar; Pachyonychia Congenita
PubMed: 31875943
DOI: 10.1111/bjd.18784 -
Indian Dermatology Online Journal 2023
PubMed: 37727554
DOI: 10.4103/idoj.idoj_533_22 -
The Keio Journal of Medicine Dec 2023Pachyonychia Congenita Project (PC Project) is an international patient advocacy organization dedicated to patients who suffer from pachyonychia congenita (PC). This...
Pachyonychia 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 while uniting patients, researchers, physicians, and industry partners on a global level to advance research and drug development for meaningful treatments and, ultimately, a cure for PC.
PubMed: 38072449
DOI: 10.2302/kjm.2023-0015-IR -
The Keio Journal of Medicine Sep 2023Pachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma,...
Pachyonychia 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 additional features, which has allowed classification by genotype. Additional features include pilosebaceous cysts, follicular hyperkeratosis, natal teeth, oral leukokeratosis, hidradenitis suppurativa, itching, and neurovascular structures. Although classed as rare, the prevalence of PC is likely to be underestimated. There is no cure or specific treatment for PC at present. Current treatments are limited to conservative measures to reduce plantar friction and trauma, mechanical debridement, topical treatments, and treatments for associated features or complications, most commonly infection. However, through active research in collaboration with PC Project, a patient-advocacy group, and the International PC Research Registry, a global registry of PC patients, there are now many new potential therapeutic options on the horizon. This review summarizes the clinical features associated with PC and highlights the current and future treatment of its manifestations.
PubMed: 37766547
DOI: 10.2302/kjm.2023-0012-IR -
The Australasian Journal of Dermatology Aug 2000A 42-year-old man presented with painful toenails which were overcurved transversely and onycholytic. Examination revealed that all toenails, the thumbs and index... (Review)
Review
A 42-year-old man presented with painful toenails which were overcurved transversely and onycholytic. Examination revealed that all toenails, the thumbs and index fingers were similarly affected. In addition, he had a small area of leukokeratosis in the mouth, epidermal cysts of the scrotal skin and a small area of hyperkeratosis on the ulnar borders of his hands. His characteristic nail changes began in the great toenails at the age of 20 years. After renal transplantation at age 39, the other nails changed and he developed the features described above. His sister has overcurvature of the fifth toenails. A diagnosis of pachyonychia congenita tarda was made. His case is compared with 14 other reported cases of this rare syndrome.
Topics: Adult; Age of Onset; Epidermal Cyst; Genetic Predisposition to Disease; Humans; Keratins; Kidney Transplantation; Leukoplakia, Oral; Male; Nails, Malformed; Scrotum; Syndrome
PubMed: 10954990
DOI: 10.1046/j.1440-0960.2000.00425.x