Abstract：
BACKGROUND:Pachyonychia congenita (PC) is a group of autosomal dominant keratinizing disorders caused by a mutation in one of 4 keratin genes. Previous classification schemes have relied on data from case series and case reports. Most patients in these reports were not genetically tested for PC. OBJECTIVE:We sought to clarify the prevalence of clinical features associated with PC. METHODS:We surveyed 254 individuals with confirmed keratin mutations regarding their experience with clinical findings associated with PC. Statistical comparison of the groups by keratin mutation was performed using logistic regression analysis. RESULTS:Although the onset of clinical symptoms varied considerably among our patients, a diagnostic triad of toenail thickening, plantar keratoderma, and plantar pain was reported by 97% of patients with PC by age 10 years. Plantar pain had the most profound impact on quality of life. Other clinical findings reported by our patients included fingernail dystrophy, oral leukokeratosis, palmar keratoderma, follicular hyperkeratosis, hyperhidrosis, cysts, hoarseness, and natal teeth. We observed a higher likelihood of oral leukokeratosis in individuals harboring KRT6A mutations, and a strong association of natal teeth and cysts in carriers of a KRT17 mutation. Most keratin subgroups expressed a mixed constellation of findings historically reported as PC-1 and PC-2. LIMITATIONS:Data were obtained through questionnaires, not by direct examination. Patients were self- or physician-referred. CONCLUSIONS:We propose a new classification for PC based on the specific keratin gene affected to help clinicians improve their diagnostic and prognostic accuracy, correct spurious associations, and improve therapeutic development.
journal_name
J Am Acad Dermatoljournal_title
Journal of the American Academy of Dermatologyauthors
Eliason MJ,Leachman SA,Feng BJ,Schwartz ME,Hansen CDdoi
10.1016/j.jaad.2011.12.009subject
Has Abstractpub_date
2012-10-01 00:00:00pages
680-6issue
4eissn
0190-9622issn
1097-6787pii
S0190-9622(11)02275-4journal_volume
67pub_type
杂志文章abstract：:The responses to aggressive gluten challenge of two dermatitis herpetiformis patients with normal gut mucosa and negative serum findings for IgA endomysial antibodies while on normal diets indicate that these patients have a latent gluten-sensitive enteropathy. This was shown further by the control of skin lesions in ...
journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章
doi：10.1016/s0190-9622(88)70089-4
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abstract：:A case of tuberculous skin ulcer is reported. The biopsy specimen did not reveal acid-fast bacteria but cultures grew Mycobacterium tuberculosis. A high index of suspicion is needed to diagnose mycobacterial ulcers correctly. The classification of the cutaneous tuberculoses is discussed. ...
journal_title：Journal of the American Academy of Dermatology
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abstract：:We report 2 cases of relapsing nummular dermatitis according to mercury sensitivity, which was confirmed by patch testing. Removal of the amalgam from dental metal alloys markedly improved their skin eruptions. One of the patients, a dentist, experienced exacerbation of the eruptions on his lower legs after handling d...
journal_title：Journal of the American Academy of Dermatology
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更新日期：2000-08-01 00:00:00
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journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章
doi：10.1016/j.jaad.2005.10.068
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abstract：BACKGROUND:The Melasma Area and Severity Index (MASI), the most commonly used outcome measure for melasma, has not been validated. OBJECTIVE:We sought to determine the reliability and validity of the MASI. METHODS:After standardized training, 6 raters independently rated 21 patients with mild to severe melasma once d...
journal_title：Journal of the American Academy of Dermatology
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更新日期：2011-01-01 00:00:00
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journal_title：Journal of the American Academy of Dermatology
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journal_title：Journal of the American Academy of Dermatology
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journal_title：Journal of the American Academy of Dermatology
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journal_title：Journal of the American Academy of Dermatology
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journal_title：Journal of the American Academy of Dermatology
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doi：10.1016/j.jaad.2004.11.066
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abstract：:Anti-Ro(SSA) and anti-La(SSB) antibodies are found in approximately 25% of systemic lupus erythematosus patients. These antibodies are also detected in lupus patients who fail to demonstrate a significant antinuclear antibody (ANA) titer when mouse liver is employed as the substrate. Approximately 5% to 10% of systemi...
journal_title：Journal of the American Academy of Dermatology
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doi：10.1016/s0190-9622(81)70013-6
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journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章
doi：10.1016/s0190-9622(99)70487-1
更新日期：1999-02-01 00:00:00
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journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章
doi：10.1016/j.jaad.2010.01.010
更新日期：2011-02-01 00:00:00
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journal_title：Journal of the American Academy of Dermatology
pub_type： 临床试验,杂志文章
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更新日期：2000-02-01 00:00:00
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journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章
doi：10.1016/j.jaad.2007.04.023
更新日期：2007-11-01 00:00:00
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journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章
doi：10.1016/s0190-9622(80)80223-4
更新日期：1980-07-01 00:00:00
abstract：BACKGROUND:Evidence on long-term dupilumab treatment for atopic dermatitis in daily practice is lacking. OBJECTIVE:To investigate patient characteristics, treatment aspects, effectiveness, and safety of up to 84 weeks of dupilumab treatment. METHODS:An observational prospective cohort study was conducted of patients ...
journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章
doi：10.1016/j.jaad.2020.05.128
更新日期：2020-11-01 00:00:00
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journal_title：Journal of the American Academy of Dermatology
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journal_title：Journal of the American Academy of Dermatology
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journal_title：Journal of the American Academy of Dermatology
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journal_title：Journal of the American Academy of Dermatology
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doi：10.1016/j.jaad.2008.09.033
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journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章
doi：10.1016/0190-9622(90)70190-s
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journal_title：Journal of the American Academy of Dermatology
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doi：10.1016/0190-9622(92)70261-d
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journal_title：Journal of the American Academy of Dermatology
pub_type： 临床试验,杂志文章
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journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章,评审
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journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章
doi：10.1016/j.jaad.2003.07.019
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journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章,评审
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更新日期：1993-05-01 00:00:00
abstract：BACKGROUND:Vascular cell adhesion molecule-1 (VCAM-1) is an endothelial protein with adhesive properties for inflammatory cells including lymphocytes. Its role in skin disease and regulation in vivo are uncertain. OBJECTIVE:Our purpose was to determine expression of VCAM-1 in normal and inflamed skin and the effect on...
journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章
doi：10.1016/0190-9622(93)70154-l
更新日期：1993-07-01 00:00:00
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journal_title：Journal of the American Academy of Dermatology
pub_type： 临床试验,杂志文章
doi：10.1016/s0190-9622(83)70167-2
更新日期：1983-10-01 00:00:00
abstract：BACKGROUND:Annular lichen planus (ALP) is a long-recognized clinical variant of lichen planus, but is often considered uncommon in occurrence. The typical distribution and presentation of this variant have not been well described. OBJECTIVE:We sought to better define the sites affected and clinical characteristics of ...
journal_title：Journal of the American Academy of Dermatology
pub_type： 杂志文章
doi：10.1016/j.jaad.2003.08.011
更新日期：2004-04-01 00:00:00
