2007 Dec. 48(3):199-205. 2011; 131:1018-24. Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.
When pachyonychia congenita is caused by mutations in the KRT6A gene, it is classified as PC-K6a. All material on this website is protected by copyright, Copyright 1994-2022 by WebMD LLC. 2012 Jan 18. May;131(5):1015-7. doi: 10.1038/jid.2011.59. Gonzlez-Ramos J, Sendagorta-Cuds E, Gonzlez-Lpez G, Mayor-Ibarguren A, Feltes-Ochoa R, Herranz-Pinto P. Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases. See the Pachyonychia Congenita Project website (www.pachyonychia.org) for details about genetic testing which is offered free of charge for patients that enroll in the IPCRR (http://www.pachyonychia.org/patient-registry/).
2005 Oct. 10(1):3-17. If you have any concerns with your skin or its treatment, see a dermatologist for advice. http://www.accessdata.fda.gov/scripts/opdlisting/oopd/OOPD_Results_2.cfm?Index_Number=391013. A genetic counselor should inform the carrier that this gene has an autosomal dominant inheritance pattern and that pachyonychia congenita can affect half of his or her progeny. 17:13-14. Br J Dermatol. [QxMD MEDLINE Link]. 1984 Nov. 120(11):1475-9. Most affected children also develop very painful blisters and calluses on the soles of the feet and, less commonly, on the palms of the hands. Multiple milia (particularly on the face) often occur in young children with PC-K17. Classification now depends on which keratin gene has the specific mutation [2].
The mutations in pachyonychia congenita are found in the genes encoding keratin 6A (KRT6A), keratin 16 (KRT16), keratin 6B (KRT6B), and keratin 17 (KRT17). Blisters develop beneath the calluses causing extreme pain. J Dermatol Sci. Skin biopsy of the affected tissues will only show nonspecific changes. DeKlotz CMC, Schwartz ME, Milstone LM, Nail removal in pachyonychia congenita: Patient-reported survey outcomes. 2015; 18:34-42. David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological SocietyDisclosure: Nothing to disclose. Br J Dermatol. These features include thick, white patches on the tongue and inside of the cheeks (oral leukokeratosis); bumps called follicular keratoses that develop around hair follicles on the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms and soles (palmoplantar hyperhidrosis). Author: Dr Sharnika Abeyakirthi, Dermatology Registrar, Waikato Hospital, Hamilton, New Zealand, 2014. DermNet NZ does not provide an online consultation service.If you have any concerns with your skin or its treatment, see a dermatologist for advice. Dermatol Ther. J Investig Dermatol Symp Proc. Keratosis disseminata circumscripta (follicularis). A genetic counsellor can advise whether the test is available in your area. Pachyonychia congenita Br J Dermatol. Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases. J Am Acad Dermatol. However, as more affected individuals were identified, it became clear that the features of the two types overlapped considerably. Best treatment practices for pachyonychia congenita. Congenita Consortium Meeting. 2005 Oct;10(1):21-30. Review. 1: 29-30. That means the defective gene comes from one parent. [QxMD MEDLINE Link]. J Investig Dermatol Symp Proc. Other less common features include angular cheilitis, laryngeal involvement resulting in a hoarse cry or hoarse voice and first bite syndrome. It is caused by two mutations in the frizzled 6 (FZD6) gene. Pachyonychia congenita type 1, or the Jadassohn-Lewandowsky type (Mendelian Inheritance in Man (MIM entry 167200), was attributed to mutations in genes encoding keratin 6A (KRT6A) or keratin 16 (KRT16) and constituted the most common form of the disorder. 179 (1):154-162. [10], Pachyonychia congenita affects both sexes equally. Normally all 20 nails are affected by onycholysis from birth/early childhood but there is no palmoplantar keratoderma or other features of PC. [3]. Pachyonychia Congenita. Pachyonychia congenita is the name given to a group of rare, inherited disorders of keratinisation the process by which keratin is formed and deposited in the outermost layer of the skin. Munro CS. O'Toole EA, Kaspar RL, Sprecher E, Schwartz ME, Ritti L. Pachyonychia Kaspar RL. Nail thickening is apparent early in life thus the name pachyonychia congenita. Pachyonychia congenita
All of these genes provide instructions for making tough, fibrous proteins called keratins. Hickerson RP, Speaker TJ, Lara MF, et al. Various epithelial cell types express a different range of keratins based on cell function. Epub 2011 Mar 24. Review. If you log out, you will be required to enter your username and password the next time you visit. Epub 2014 Aug 6. J Invest Dermatol. These include siRNAs, rapamycin, topical rapamycin and simvastatin. Aug;171(2):343-55. doi: 10.1111/bjd.12958. William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative DermatologyDisclosure: Received income in an amount equal to or greater than $250 from: Elsevier; WebMD
Served as a speaker for various universities, dermatology societies, and dermatology departments. *https://www.pachyonychia.org/pc-data/ [2]. Smith FJD, Hansen CD, Hull PR, Kaspar RL, McLean WHI, OToole E, Sprecher E. Curr Gene Ther. Pachyonychia congenita, Dry skin Two heterodimers then form a tetramer. [2] and in 1906 by Jadassohn and Lewandowsky.
Br J Dermatol.
[QxMD MEDLINE Link]. Palmoplantar keratoderma 1904. Mller made one of the first documented observations of pachyonychia congenita in 1904. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. Br J Dermatol. 1991. [QxMD MEDLINE Link]. Zhao Y, Gartner U, Smith FJ, McLean WH. GeneReviews Follicular keratoses occur in some patients on the trunk, elbows and knees, usually in early childhood. Pachyonychia congenita is a rare genodermatosis due to mutations in one of four keratin genes. Pachyonychia congenita is characterised by thickened skin of the palms and soles, thickened nails, and white patches in mucous membranes. 10.1016/j.jaad.2011.12.009. The phenotypic and molecular genetic features of pachyonychia congenita. In very young children care is needed to distinguish between blistering seen in PC and that in EBS.
NORD strives to open new assistance programs as funding allows. McLean WH, Hansen CD, Eliason MJ, et al.
The genetic basis of pachyonychia congenita. Tidman MJ, Wells RS.
The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. arrow-right-small-blue 1995; 10:363-365. Clinical and pathological features of pachyonychia congenita. [QxMD MEDLINE Link]. 2005 Oct. 10(1):62-6. [4] Pachyonychia congenita type 2, or the Jackson-Lawler type (MIM entry 167210), was attributed to mutations in keratin 6B (KRT6B) or keratin 17 (KRT17) and could be distinguished from type 1 by the development of natal teeth, widespread steatocystomas, and occasionally pili torti. [5, 6] have provided a clearer picture of the disease and reveal a spectrum of overlapping clinical features that can be correlated genotypically to the specific mutations in patients with pachyonychia congenita. What are the different ways a genetic condition can be inherited? GeneReviews [Internet]. National Organization for Rare Disorders (NORD) 55 Kenosia Ave., Danbury CT 06810 (203)744-0100. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site. Pachyonychia congenita DermNet NZ does not provide an online consultation service. Some mutations are found in a number of families (recurrent mutations), while other rare mutations have only been observed in single families to date. Leukokeratosis of the oral mucosa is a prominent sign. Pachyonychia How can gene variants affect health and development? 1950 Jul. Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS. Control of plantar blisters in pachyonychia congenita with topical aluminium chloride. 2011 2016; 29:32-36. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTEwNjE2OS1vdmVydmlldw==. Leachman SA, Hickerson RP, Schwartz ME, et al. Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, Joval I, van NORD is a registered 501(c)(3) charity organization.
[QxMD MEDLINE Link]. The majority of mutations causing PC are within the helix boundary domains at either end of the alpha helical rod domain. Seattle (WA): University of Washington, Seattle; 1993-2018. Mutations in keratin genes alter the structure of keratin proteins, which prevents these proteins from forming strong, stable networks within cells. Please note that NORD provides this information for the benefit of the rare disease community. Pachyonychia congenita: mutations and clinical presentations. salicylic acid, urea) and moisturizers provide limited benefit in softening the skin. Hyperkeratotic lesions of the skin may involve acanthosis, hyperkeratosis, and parakeratosis. [QxMD MEDLINE Link]. For some patients, retinoids can help in thinning the callus but may lead to increased pain. Topical agents including keratolytics (eg. The tetramers subsequently aggregate to form larger order polymers that give rise to a keratin intermediate filament. 1988 Mar. A large mutational study in pachyonychia congenita. In some cases, pachyonychia congenita can affect the voice box (larynx), causing hoarseness or breathing problems. Information on Clinical Trials and Research Studies, 5 Myths About Orphan Drugs and the Orphan Drug Act, http://www.pachyonychia.org/patient-registry/, https://rarediseases.org/for-patients-and-families/information-resources/news-patient-recruitment/, National Foundation for Ectodermal Dysplasias, Genetic and Rare Diseases (GARD) Information Center, https://www.ncbi.nlm.nih.gov/books/NBK1280/. Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. Pan, B, Byrnes K, Schwartz M, et al.