132 results match your criteria Knuckle Pads


PLACK syndrome resulting from a novel homozygous variant in CAST.

Pediatr Dermatol 2020 Oct 3. Epub 2020 Oct 3.

Department of Paediatric Dermatology, Children's Health Ireland at Crumlin, Dublin, Ireland.

PLACK syndrome (OMIM 616295) is a form of generalized peeling skin syndrome (GPSS; OMIM 270300). It is an autosomal recessive genodermatosis caused by pathogenic mutations in CAST, which encodes calpastatin, an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease. We present a 5-year-old girl diagnosed with PLACK syndrome with typical clinical features and homozygosity for a novel variant. Read More

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http://dx.doi.org/10.1111/pde.14383DOI Listing
October 2020

Pachydermodactyly: a systematic review.

Ir J Med Sci 2020 Oct 1. Epub 2020 Oct 1.

Department of Medicine, Medical School, Universidad de Santiago de Compostela, Santiago de Compostela, Spain.

Introduction/objectives: Pachydermodactyly is a rare, benign fibromatosis located around the proximal interphalangeal joints. It is often misdiagnosed as juvenile idiopathic arthritis and may cause unnecessary treatments and anxiety in patients. The goal of this paper is to describe this condition through all the existing information in the scientific literature. Read More

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http://dx.doi.org/10.1007/s11845-020-02378-1DOI Listing
October 2020

Dupuytren contracture as a sign of systemic disease.

Clin Dermatol 2019 Nov - Dec;37(6):675-678. Epub 2019 Jul 31.

The London Clinic, London, England.

Dupuytren contracture (DC) is predominantly an autosomal dominant disorder characterized by hypertrophy and contraction of the palmar fascia that results in tethered flexion of the affected digits. It has its highest prevalence in the North European population or in people of Viking descent, and its incidence is growing with age. DC shares a common inheritance mode, predisposing factors, comorbidities, pathophysiology, and evolution with Ledderhose disease, Garrod knuckle pads, and Peyronie disease. Read More

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http://dx.doi.org/10.1016/j.clindermatol.2019.07.027DOI Listing

Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review.

Mol Genet Genomic Med 2019 11 16;7(11):e977. Epub 2019 Sep 16.

Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, China.

Background: Epidermolytic palmoplantar keratoderma (EPPK) is characterized by hyperkeratotic lesions on palms and soles. The disorder is caused by mutations of keratin 9 (KRT9) or KRT1 gene.

Methods: Epidermolytic palmoplantar keratoderma was diagnosed by physical examination and histopathological analysis in a five-generation Chinese family. Read More

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http://dx.doi.org/10.1002/mgg3.977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825865PMC
November 2019
5 Reads

A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.

Cell Tissue Res 2019 Nov 7;378(2):267-277. Epub 2019 Aug 7.

Faculty of Arts and Sciences, Department of Molecular Biology and Genetics, University of Acibadem, Istanbul, Turkey.

Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal recessive mode of inheritance. We report a 5. Read More

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http://dx.doi.org/10.1007/s00441-019-03077-9DOI Listing
November 2019

Dorsal Dupuytren's disease: a systematic review of published cases and treatment options.

J Hand Surg Eur Vol 2019 Nov 11;44(9):963-971. Epub 2019 Jun 11.

Department of Plastic, Reconstructive and Hand Surgery, Charles Nicolle University Hospital, Rouen, France.

Dorsal lesions in Dupuytren's disease are rare and data concerning their epidemiology and management are sparse. We conducted a systematic review to summarize reported cases of dorsal Dupuytren's disease. Pubmed, Cochrane, and Embase databases were searched from 1893 to 2018, and 17 articles were selected (525 patients). Read More

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http://dx.doi.org/10.1177/1753193419852171DOI Listing
November 2019
5 Reads

A novel treatment for idiopathic knuckle pads with cantharidin-podophylotoxin-salicylic acid.

Pediatr Dermatol 2019 Jul 18;36(4):544-545. Epub 2019 Mar 18.

Department of Dermatology, Pontificia Universidad Católica de Chile, Santiago, Chile.

Knuckle pads are benign subcutaneous nodules that appear most frequently on the small joints of the hands. In children, they are often idiopathic, and no universally effective treatment has been reported. We present the case of an adolescent successfully treated with a combination of topical cantharidin -podophylotoxin -salicylic acid. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/pde.13803
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http://dx.doi.org/10.1111/pde.13803DOI Listing
July 2019
8 Reads

Clinical features and management of superficial fibromatoses.

J Dtsch Dermatol Ges 2019 Apr 13;17(4):393-397. Epub 2019 Mar 13.

Department of Dermatology and Allergy Biederstein, Technical University of Munich, Munich, Germany.

Fibromatoses are a group of benign connective tissue tumors characterized by the infiltrative, aggressive proliferation of well-differentiated fibroblasts, leading to frequent local recurrence. Within this heterogeneous disease group, superficial fibromatoses show slower growth and more benign infiltration of surrounding tissues than deep fibromatoses. Superficial fibromatoses relevant to dermatology include palmar, plantar, and penile fibromatosis, knuckle pads, pachydermodactyly and infantile digital fibromatosis. Read More

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http://doi.wiley.com/10.1111/ddg.13808
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http://dx.doi.org/10.1111/ddg.13808DOI Listing
April 2019
22 Reads

Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma.

Front Genet 2018 7;9:645. Epub 2019 Jan 7.

Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Hefei, China.

Epidermolytic palmoplantar keratoderma (EPPK, OMIM 144200) is an autosomal dominant inherited disease, clinically characterized by diffuse yellowish thickening of the skin on the palms and soles, usually with erythematous borders developing during the first weeks or months after birth. Pathogenesis of EPPK is determined by mutations in the keratin gene (KRT9). Thirty three mutations in the KRT9 gene from 100 EPPK families have been identified. Read More

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https://www.frontiersin.org/article/10.3389/fgene.2018.00645
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http://dx.doi.org/10.3389/fgene.2018.00645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330350PMC
January 2019
29 Reads

Acrokeratoelastoidosis and knuckle pads coexisting in a child.

Cutis 2018 Nov;102(5):344-346

Advanced Dermatology Associates, LTD, Allentown, Pennsylvania, USA.

Acrokeratoelastoidosis (AKE) is a marginal papular keratoderma that typically presents in childhood and young adulthood. Childhood cases have exhibited autosomal-dominant inheritance. Acrokeratoelastoidosis is distinct from other palmoplantar marginal papular keratodermas because of its characteristic dermal elastorrhexis with an overlying epithelial dell. Read More

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November 2018
16 Reads

Erosive Arthritis, Fibromatosis, and Keloids: A Rare Dermatoarthropathy.

Case Rep Rheumatol 2018 22;2018:3893846. Epub 2018 Apr 22.

Division of Plastic Surgery, Department of Surgery, Mayo Clinic Hospital, Phoenix, AZ, USA.

Polyfibromatosis is a rare disease characterized by fibrosis manifesting in different locations. It is commonly characterized by palmar fibromatosis (Dupuytren's contracture) in variable combinations with plantar fibromatosis (Ledderhose's disease), penile fibromatosis (Peyronie's disease), knuckle pads, and keloids. There are only three reported cases of polyfibromatosis and keloids with erosive arthritis. Read More

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https://www.hindawi.com/journals/crirh/2018/3893846/
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http://dx.doi.org/10.1155/2018/3893846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937516PMC
April 2018
39 Reads

Miscellaneous skin disease and the metabolic syndrome.

Clin Dermatol 2018 Jan - Feb;36(1):94-100. Epub 2017 Sep 8.

Department of Dermatology, Istanbul Medeniyet University, Medical School, Istanbul, Turkey. Electronic address:

The link between the metabolic syndrome (MetS) and skin diseases is increasingly important, with new associations being discovered. The association between MetS and psoriasis or MetS and hidradenitis suppurativa is well known, although the relationship between MetS and various autoimmune or inflammatory diseases has only recently attracted interest. Some inflammatory skin diseases, such as vitiligo, scleredema, recurrent aphthous stomatitis, Behçet disease, rosacea, necrobiosis lipoidica, granuloma annulare, skin tags, knuckle pads, and eruptive xanthomas, have possible associations with MetS. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0738081X173017
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http://dx.doi.org/10.1016/j.clindermatol.2017.09.016DOI Listing
August 2018
71 Reads

Imaging Features of Knuckle Pads.

J Belg Soc Radiol 2016 Jul 12;100(1):67. Epub 2016 Jul 12.

AZ Sint-Maarten and University (Hospital) Antwerp/Ghent, BE.

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http://jbsr.be/articles/10.5334/jbr-btr.1096/
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http://dx.doi.org/10.5334/jbr-btr.1096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102944PMC
July 2016
10 Reads

Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.

Eur J Hum Genet 2016 08 2;24(9):1367-70. Epub 2016 Mar 2.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Basan syndrome is a rare autosomal dominant genodermatosis, characterized by rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. A mutation in the SMARCAD1 gene was recently reported to cause Basan syndrome in one family. Here, we present a large Chinese family with Basan syndrome; some patients presented with hyperpigmentation and knuckle pads in addition to previously reported clinical manifestations. Read More

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http://dx.doi.org/10.1038/ejhg.2016.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989204PMC
August 2016
120 Reads

Characterization of knuckle (Garrod) pads using optical coherence tomography in vivo.

Cutis 2015 Sep;96(3):E10-1

Department of Dermatology, Brown University, 593 Eddy St, APC-10, Providence, RI 02903, USA.

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September 2015
49 Reads
1 Citation
0.594 Impact Factor

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

Case Rep Dermatol 2015 May-Aug;7(2):220-6. Epub 2015 Aug 19.

Division of Dermatology, McGill University Health Centre, Montreal, Que., Canada.

Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a favorable response to oral acitretin. Read More

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http://dx.doi.org/10.1159/000438920DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592507PMC
October 2015
8 Reads

Application of vibration to wrist and hand skin affects fingertip tactile sensation.

Physiol Rep 2015 Jul 14;3(7). Epub 2015 Jul 14.

Division of Occupational Therapy, Department of Health Professions, Department of Health Sciences and Research, Medical University of South Carolina, Charleston, South Carolina, USA

A recent study showed that fingertip pads' tactile sensation can improve by applying imperceptible white-noise vibration to the skin at the wrist or dorsum of the hand in stroke patients. This study further examined this behavior by investigating the effect of both imperceptible and perceptible white-noise vibration applied to different locations within the distal upper extremity on the fingertip pads' tactile sensation in healthy adults. In 12 healthy adults, white-noise vibration was applied to one of four locations (dorsum hand by the second knuckle, thenar and hypothenar areas, and volar wrist) at one of four intensities (zero, 60%, 80%, and 120% of the sensory threshold for each vibration location), while the fingertip sensation, the smallest vibratory signal that could be perceived on the thumb and index fingertip pads, was assessed. Read More

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http://dx.doi.org/10.14814/phy2.12465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552540PMC
July 2015
9 Reads
3 Citations

Frequency of metabolic syndrome in patients with knuckle pads.

J Dermatol 2015 Dec 29;42(12):1165-8. Epub 2015 Jun 29.

Department of Dermatology, Medical Faculty, Selcuk University, Konya, Turkey.

Knuckle pads are hyperkeratotic, benign skin lesions that we commonly observe in obese patients. There is no study that investigates the association between metabolic syndrome (MetS) and knuckle pads. We aimed to investigate the frequency of MetS in patients with knuckle pads. Read More

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http://dx.doi.org/10.1111/1346-8138.13012DOI Listing
December 2015
6 Reads

[A man with swollen fingers].

Ned Tijdschr Geneeskd 2015 ;159:A8587

Sint Maartenskliniek, Nijmegen.

A 28-year-old man was referred to our hospital because of localised swelling of his fingers, with suspicion of arthritis of the proximal interphalangeal (PIP) joints. At physical examination we observed a swelling, superficial to the PIP joints. Ultrasonography revealed a hypo-echoic structure above the extensor tendon, typical for knuckle pads. Read More

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August 2015
12 Reads

Camptodactyly and knuckle pads coexisting in an adolescent boy: connection or coincidence?

Pediatr Dermatol 2015 May-Jun;32(3):e126-7. Epub 2015 Mar 17.

Department of Dermatology, University of Toronto, Toronto, Ontario, Canada.

Camptodactyly is a condition characterized by a nontraumatic, fixed flexion contracture at the proximal interphalangeal joint, typically involving the fifth finger. Most occurrences are sporadic, but autosomal dominant transmission and syndromic associations have been described in the literature. We describe the case of an adolescent boy who presented to our clinic with a 2-year history of bilateral, nonsyndromic camptodactyly and knuckle pads. Read More

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http://dx.doi.org/10.1111/pde.12558DOI Listing
April 2016
7 Reads

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

Am J Hum Genet 2015 Mar 12;96(3):440-7. Epub 2015 Feb 12.

Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China; Peking-Tsinghua Center for Life Sciences, Beijing 100871, China. Electronic address:

Calpastatin is an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease. Here we show that loss-of-function mutations in calpastatin (CAST) are the genetic causes of an autosomal-recessive condition characterized by generalized peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, which we propose to be given the acronym PLACK syndrome. In affected individuals with PLACK syndrome from three families of different ethnicities, we identified homozygous mutations (c. Read More

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http://dx.doi.org/10.1016/j.ajhg.2014.12.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375526PMC
March 2015
29 Reads

[Ainhum and "African acral keratoderma": three cases].

Ann Dermatol Venereol 2015 Mar 23;142(3):170-5. Epub 2015 Jan 23.

Service de dermatologie, hôpital Saint-Louis, AP-HP, 1, avenue Claude-Vellefaux, 75010 Paris, France. Electronic address:

Background: Ainhum, or spontaneous dactylitis, involves the formation of a gradual constriction in the digital-plantar fold of the fifth toe that leads, after several years, to autoamputation of the digit. This condition is classically distinguished from "true" ainhum, of unknown aetiology and affecting only subjects of African origin, from "pseudo-ainhum", resulting from different causes such as inflammatory constriction or constriction by a foreign body, and finally from ainhumoid palmoplantar keratoderma, which is of genetic origin and occurs for instance in Vohwinkel syndrome. Herein, we report three cases of ainhum in women of sub-Saharan African origin; in addition, all three subjects were also presenting various forms of hyperkeratosis of the hands and feet known to primarily affect subjects of African origin. Read More

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http://dx.doi.org/10.1016/j.annder.2014.11.013DOI Listing
March 2015
24 Reads

Report of a family with idiopathic knuckle pads and review of idiopathic and disease-associated knuckle pads.

Dermatol Online J 2013 May 15;19(5):18177. Epub 2013 May 15.

Warren Alpert Medical School of Brown University Providence, RI, United States.

Knuckle pads are a rare, frequently overlooked, thickening of the skin usually overlying the extensor surface of the proximal interphalangeal joints. They are well- circumscribed, benign lesions that generally do not require treatment. Idiopathic knuckle pads must be differentiated from similar appearing lesions or trauma-induced pseudo-knuckle pads. Read More

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May 2013
19 Reads

Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma.

Pediatr Dermatol 2013 May-Jun;30(3):354-8. Epub 2012 Dec 26.

Servicio de Genética, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México, México City, DF, México.

Epidermolytic palmoplantar keratoderma (EPPK), an autosomal-dominant genodermatosis, is the most frequently occurring hereditary palmoplantar keratoderma. EPPK is characterized by hyperkeratosis of the palms and soles. Approximately 90% of patients present with mutations in the KRT9 gene, which encodes for keratin 9. Read More

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http://dx.doi.org/10.1111/pde.12027DOI Listing
January 2014
22 Reads

Knuckle pads - a rare finding.

J Ultrason 2012 Dec 30;12(51):493-8. Epub 2012 Dec 30.

Department of Rheumatology and Musculoskeletal Ultrasound, Bethesda Hospital, Basel, Switzerland.

Knuckle pads are rare harmless subcutaneous nodules that must be differentiated from joint disease of the proximal interphalangeal or rarely of the metacarpophalangeal joints as well as from other masses of the paraarticular tissues. We present a case of an otherwise healthy 36-year-old woman presenting with bilateral knuckle pads located at the dorsal aspect of the proximal interphalangeal joints. No predisposition to a specific musculoskeletal disorder was noted. Read More

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http://dx.doi.org/10.15557/JoU.2012.0037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603232PMC
December 2012
8 Reads
1 Citation

[Knuckle pads and therapeutic options].

Authors:
Karsten Knobloch

MMW Fortschr Med 2012 Nov;154(19):41-2

SportPraxis, Hannover.

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http://dx.doi.org/10.1007/s15006-012-1341-3DOI Listing
November 2012
12 Reads

Mal de meleda with lip involvement: a report of two cases.

Indian J Dermatol 2012 Sep;57(5):390-3

Department of Dermatology and STD, Indira Gandhi Medical College and Research Institute, Pondicherry, India.

Mal de Meleda is a rare autosomal recessive transgradient palmoplantar keratoderma characterized by transgradient keratoderma with associated scleroatrophy, nail changes, pseudoainhum around digits and perioral erythema, without a tendency for spontaneous resolution. Involvement of the lip by keratoderma has not been reported in the English literature. Here we present two cases of Mal de Meleda with unusual lip involvement. Read More

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http://dx.doi.org/10.4103/0019-5154.100497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482805PMC
September 2012
12 Reads

Dupuytren diathesis and genetic risk.

J Hand Surg Am 2012 Oct;37(10):2106-11

Department of Plastic Surgery, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Purpose: Dupuytren disease (DD) is a benign fibrosing disorder of the hand and fingers. Recently, we identified 9 single nucleotide polymorphisms (SNPs) associated with DD in a genome-wide association study. These SNPs can be used to calculate a genetic risk score for DD. Read More

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http://dx.doi.org/10.1016/j.jhsa.2012.07.017DOI Listing
October 2012
12 Reads

Pachydermodactyly in a 16-year-old adolescent boy.

J Clin Rheumatol 2012 Aug;18(5):246-8

Rheumatology Department, Hospital de SantaMaria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal.

Pachydermodactyly is a superficial benign fibromatosis of unknown etiology; it is rare, more frequent in adolescent males, and characterized by painless swelling of the proximal interphalangeal joints(PIP) of the hands. Histologic examination of the skin shows epidermal hyperplasia and increased number of dermal fibroblasts and collagen fibers.We report the case of a 16-year-old adolescent boy who presented swelling of the lateral and dorsal regions of all the metacarpophalangeal and PIP joints of the left hand and PIP and metacarpophalangeal joints of the second and fifth fingers of the right hand, with 3 years of evolution and no arthritis or functional impairment. Read More

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http://pdfs.journals.lww.com/jclinrheum/2012/08000/Unilatera
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/RHU.0b013e3182614d08DOI Listing
August 2012
46 Reads

A family of Bart-Pumphrey syndrome.

Indian J Dermatol Venereol Leprol 2012 Mar-Apr;78(2):178-81

2nd Dermatology Clinic, Ankara Numune Education and Research Hospital, Ankara, Turkey.

Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma. Two mutations in the extracellular domain of GBJ2 are resposible for this syndrome. To date, less than 10 case reports or clinical series about BPS have been published in the literature. Read More

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http://dx.doi.org/10.4103/0378-6323.93636DOI Listing
July 2012
13 Reads

The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.

Anat Rec (Hoboken) 2012 Apr 20;295(4):604-9. Epub 2012 Jan 20.

Department of Biochemistry and Genetics, National Education Base for Basic Medical Sciences, Institute of Cell Biology, School of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, China.

Epidermolytic palmoplantar keratoderma (EPPK) is generally associated with dominant-negative mutations of the Keratin 9 gene (KRT9), and rarely with the Keratin 1 gene (KRT1). To date, a myriad of mutations has been reported with a high frequency of codon 163 mutations within the first exon of KRT9 in different populations. Notably, a distinct phenotypic heterogeneity, digital mutilation, was found recently in a 58-year-old female Japanese EPPK patient with p. Read More

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http://dx.doi.org/10.1002/ar.22409DOI Listing
April 2012
56 Reads

Rheumatoid nodules: the importance of a correct differential diagnosis.

Eur Ann Allergy Clin Immunol 2011 Jun;43(3):95-6

Rheumatology Unit, Hospital of Manerbio (BS), Italy.

Knuckle pads is a syndrome characterized by the presence of multiple nodules located on the extensor side of the interphalangeal or metacarpophalangeal joints. Several conditions can be confused with Knuckle pads. We describe a case of a 47-years-old man who developed multiple bilateral roundish nodules located in the skin over the dorsal and lateral interphalangeal joints in both hands. Read More

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June 2011
10 Reads

A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly.

Eur J Dermatol 2011 Sep-Oct;21(5):675-9

Department of Biochemistry and Genetics, Zhejiang University, Hangzhou Zhejiang, China.

Knuckle pads and camptodactyly are overlapping symptoms associated with many genetic and environmental factors. To the best of our knowledge, all reported cases of epidermolytic palmoplantar keratoderma (EPPK) with knuckle pads have been without accompanying camptodactyly. We here report a novel KRT9 mutation-EPPK family with combined knuckle pads and camptodactyly. Read More

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http://dx.doi.org/10.1684/ejd.2011.1458DOI Listing
January 2012
16 Reads

Images in clinical medicine. Knuckle pads.

N Engl J Med 2011 Jun;364(25):2451

Laboratorium für Medizinische Mikrobiologie, Molbis, Germany.

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http://dx.doi.org/10.1056/NEJMicm1008915DOI Listing
June 2011
20 Reads

Granuloma annulare mimicking dorsal knuckle pads.

J Hand Surg Am 2011 Jun 12;36(6):1039-41. Epub 2011 Apr 12.

Department of Orthopaedic Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

A 37-year-old man underwent excision of what was presumed to be knuckle pads associated with Dupuytren disease. The histology revealed granuloma annulare, which is typically treated nonsurgically. This report includes a discussion of granuloma annulare and its differentiation from knuckle pads. Read More

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http://dx.doi.org/10.1016/j.jhsa.2011.02.010DOI Listing
June 2011
10 Reads

Focused extracorporeal shockwave therapy in Dupuytren's disease--a hypothesis.

Med Hypotheses 2011 May 1;76(5):635-7. Epub 2011 Feb 1.

Plastic, Hand and Reconstructive Surgery, Hannover Medical School, Germany.

Dupuytren's disease is a progressive disease due to unknown causal agents or genetics. An epidemiological analysis of 566 cases in North Germany estimated that around 1.9 million Germans are suffering from Dupuytren's disease. Read More

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http://dx.doi.org/10.1016/j.mehy.2011.01.018DOI Listing
May 2011
13 Reads

Dorsal pads versus nodules in normal population and Dupuytren's disease patients.

J Hand Surg Am 2010 Oct;35(10):1571-9

University of Oklahoma Health Sciences Center/INTEGRIS Baptist Medical Center, Oklahoma City, OK 73112, USA.

Purpose: There is ambiguity about using the term "knuckle pads" in Dupuytren's disease (DD). Clear definitions of dorsal knuckle pads and nodules are lacking and the prevalence of these 2 entities has not been determined. We sought to define these terms and investigate the distribution and frequency of dorsal knuckle pads and dorsal nodules in the normal volunteers and in DD patients. Read More

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http://dx.doi.org/10.1016/j.jhsa.2010.06.001DOI Listing
October 2010
112 Reads

A family with leukonychia totalis.

Indian J Dermatol 2010 ;55(1):102-4

Departement of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.

A family presented to our dermatology clinic with a complaint of white nails. Physical examination revealed clinical feature of leukonychia totalis and the presence of sensorineural hearing loss, palmo plantar keratoderma and knuckle pads (four essential criteria for the diagnosis of Bart Pumphrey syndrome).Three consecutive generations of this family were affected with variable presentations of Bart Pumphrey syndrome in male and female; and autosomal dominant pattern of inheritance. Read More

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http://dx.doi.org/10.4103/0019-5154.60365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2856358PMC
June 2010
14 Reads

Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.

Br J Dermatol 2009 Aug 30;161(2):452-5. Epub 2009 Mar 30.

Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Sapporo, Japan.

Background: Connexins, components of the gap junction, are expressed in several organs including the skin and the cochlea. Mutations in connexin genes including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are responsible for various dermatological syndromes and/or inherited hearing loss, frequently showing overlapping phenotypes. Read More

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http://dx.doi.org/10.1111/j.1365-2133.2009.09137.xDOI Listing
August 2009
16 Reads

Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression.

Eur J Dermatol 2009 Mar-Apr;19(2):114-8. Epub 2008 Dec 23.

IDI-IRCCS Biochemistry laboratory c/o Dep. of Experimental Medicine, University of Tor Vergata, Via Montpellier, 1. 00133 Rome, Italy.

Epidermolytic PalmoPlantar keratoderma (EPPK) Vörner-type is an autosomal dominantly inherited skin disease, characterized by severe thickening of the palms and soles, caused by mutations in the keratin K9 (KRT9) gene. To date, a number of KRT9 mutations have been detected, most of which affect the highly conserved 1A region of the central alpha-helical domain, important for keratin heterodimerization. The most common mutation is the substitution of the arginine in position 163 with a tryptophan (R163W), which has been reported in North American, European, and Japanese populations. Read More

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http://dx.doi.org/10.1684/ejd.2008.0575DOI Listing
May 2009
18 Reads

Knuckle pads associated with clubbed fingers.

J Dermatol 2007 Dec;34(12):838-40

Department of Internal Medicine, Saga Medical School, Saga City, Saga, Japan.

The patient was a 37-year-old male who visited us for the chief complaints of severely keratinized elastic soft nodules with normal skin color or slightly glossy pale brown color at the distal interphalangeal joints of the bilateral second, third, fourth and fifth fingers associated with bilateral clubbed fingers. The nodules were histopathologically diagnosed as knuckle pads. Clubbed fingers were also noted, but no cardiopulmonary disorder was observed. Read More

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http://dx.doi.org/10.1111/j.1346-8138.2007.00396.xDOI Listing
December 2007
54 Reads

A novel treatment for knuckle pads with intralesional Fluorouracil.

Arch Dermatol 2007 Nov;143(11):1458-60

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http://dx.doi.org/10.1001/archderm.143.11.1458DOI Listing
November 2007
8 Reads

Fifth finger camptodactyly maps to chromosome 3q11.2-q13.12 in a large German kindred.

Eur J Hum Genet 2008 Feb 14;16(2):265-9. Epub 2007 Nov 14.

Zentrum für Humangenetik, Philipps-Universität Marburg, Bahnhofstr. 7, Marburg, Germany.

Camptodactyly (MIM 114200) is a digit deformity characterised by permanent flexion contracture of fifth fingers at the proximal interphalangeal (PIP) joints. The sporadic cases are common but a familial occurrence is not much appreciated. In an attempt to identify the genetic basis of camptodactyly, we have analysed a large German family with camptodactyly segregating in an autosomal dominant fashion. Read More

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http://dx.doi.org/10.1038/sj.ejhg.5201957DOI Listing
February 2008
24 Reads

An 11-year-old girl with knuckle plaques. Knuckle pads.

Pediatr Ann 2007 Aug;36(8):459-60

Division of Dermatology, Children's Memorial Medical Center, Northwestern University, Chicago, IL, USA.

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http://dx.doi.org/10.3928/0090-4481-20070801-05DOI Listing
August 2007
37 Reads

Lubrication regime of the contact between fat and bone in bovine tissue.

Proc Inst Mech Eng H 2007 May;221(4):351-6

Institute of Medical Engineering and Medical Physics, Cardiff University, Cardiff, UK.

Fat pads are masses of encapsulated adipose tissue located throughout the human body. Whilst a number of studies describe these soft tissues anatomically little is known about their biomechanics, and surgeons may excise them arthroscopically if they hinder visual inspection of the joint or bursa. By measuring the coefficient of friction between, and performing Sommerfeld analysis of, the surfaces approximating the in vivo conjuncture, this contact has been shown to have a coefficient of friction of the order of 0. Read More

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http://dx.doi.org/10.1243/09544119JEIM176DOI Listing
May 2007
10 Reads

Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family.

Clin Exp Dermatol 2009 Jan 14;34(1):26-8. Epub 2007 Mar 14.

Departments of Dermatology, Wuxi Second Affiliated Hospital of Nanjing Medical University, Wuxi, Jiangsu, China.

Epidermolytic plamoplantar keratoderma (EPPK) is an autosomal dominant inherited disease. It caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We studied a four-generation family with EPPK combined with knuckle pads from Jiangsu province, China. Read More

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http://doi.wiley.com/10.1111/j.1365-2230.2007.02384.x
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http://dx.doi.org/10.1111/j.1365-2230.2007.02384.xDOI Listing
January 2009
98 Reads