116 results match your criteria Knuckle Pads

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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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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September 2017
22 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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August 2016
19 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
2 Reads
0.59 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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October 2015
3 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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July 2015
1 Read
2 PubMed Central Citations(source)

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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December 2015

[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
1 Read

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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April 2016
1 Read

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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March 2015
8 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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March 2015
5 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
3 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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January 2014
1 Read

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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December 2012
1 Read

[Knuckle pads and therapeutic options].

Karsten Knobloch

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

SportPraxis, Hannover.

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November 2012
1 Read

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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September 2012
2 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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October 2012
1 Read

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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August 2012
5 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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July 2012
1 Read

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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April 2012
2 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
1 Read

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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January 2012
1 Read

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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June 2011
3 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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June 2011
1 Read

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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May 2011
5 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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October 2010
18 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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June 2010
1 Read

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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August 2009
4 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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May 2009
4 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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December 2007
7 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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February 2008
2 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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August 2007
1 Read

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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May 2007
1 Read

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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January 2009
2 Reads

Video game induced knuckle pad.

Pediatr Dermatol 2006 Sep-Oct;23(5):455-7

Division of Dermatology, Department of Medicine, Medical College of Georgia, Augusta 30904, USA.

Controversy and concern surround the video game playing fascination of children. Scientific reports have explored the negative effects of video games on youth, with a growing number recognizing the actual physical implications of this activity. We offer another reason to discourage children's focus on video games: knuckle pads. Read More

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January 2007
3 Reads

[Diagnostic image (290). A woman with painful finger joints and swelling].

Ned Tijdschr Geneeskd 2006 Sep;150(36):1982

Universitair Medisch Centrum Utrecht, afd. Reumatologie en Klinische Immunologie, F002.127, Postbus 85.500, 3508 GA Utrecht.

A 38-year-old woman with chronic pain of and swelling located at the proximal interphalangeal (PIP) finger joints suffered from 'knuckle pads' or 'Garrod's fatty pads'. Read More

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September 2006
1 Read

Ultrasound appearance of knuckle pads.

Skeletal Radiol 2006 Nov 11;35(11):823-7. Epub 2006 May 11.

Department of Diagnostic Radiology, The University of Alabama at Birmingham, UAB, N364 JT, 619 19th St S, Birmingham, AL 35294-6830, USA.

Objective: We describe the ultrasound appearance of knuckle pads.

Design And Patients: Retrospective analysis of imaging in a series of five patients initially referred for evaluation of periarticular soft-tissue swelling of the hands involving the dorsum of the PIP and MP joints. Two patients had associated Dupuytren's contractures. Read More

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November 2006
2 Reads

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.

Br J Dermatol 2006 Jan;154(1):167-71

Division of Dermatogenetics, Cologne Centre for Genomics, University of Cologne, Zülpicher Str. 47, 50674 Cologne, Germany.

Loricrin keratoderma is an autosomal dominant palmoplantar keratoderma heterogeneous in clinical appearance. We report a family with diffuse ichthyosis and honeycomb palmoplantar keratoderma but no occurrence of pseudoainhums or autoamputations. All patients were born as collodion babies and displayed prominent knuckle pads. Read More

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January 2006
2 Reads

A retrospective review of the management of Dupuytren's nodules.

J Hand Surg Am 2005 Sep;30(5):1014-8

University of Cincinnati College of Medicine, Department of Orthopaedic Surgery, and Hand Surgery Specialists, Cincinnati, OH 45267-0212, USA.

Purpose: To evaluate the progression of Depuytren's nodules with more than 6 years of follow-up study.

Methods: Fifty-nine patients who presented initially with Dupuytren's nodules returned for physical examination at an average follow-up period of 8.7 years (range, 6-15 y). Read More

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September 2005
2 Reads

Palmar-plantar fibromatosis in children and preadolescents: a clinicopathologic study of 56 cases with newly recognized demographics and extended follow-up information.

Am J Surg Pathol 2005 Aug;29(8):1095-105

Department of Soft Tissue Pathology, Armed Forces Institute of Pathology, Washington, DC 20306, USA.

Palmar-plantar fibromatosis, the most common type of fibromatosis, is well recognized in the adult population, but many clinicians and pathologists are unfamiliar with the fact that children may also be affected by this process. This report describes the clinicopathologic findings in 56 cases of palmar-plantar fibromatosis in children and preadolescents. Our study group included 19 males and 37 females, ranging from 2 to 12 years of age at the time of their first surgical procedure (median age, 9 years). Read More

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August 2005
3 Reads

Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation.

J Med Genet 2005 Jan;42(1):e2

Department of Medical Genetics, 8-53 Medical Sciences Building, University of Alberta Hospital, Edmonton, Alberta, Canada T6G 2H7.

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January 2005
4 Reads

[Pachydermodactyly: a report of two cases].

Chir Main 2004 Aug;23(4):205-7

Hôpital américain de Neuilly, 92200 Neuilly-sur-Seine, France.

Pachydermodactyly is a superficial benign, symmetrical and painless fibromatosis, characterized by a swelling of the proximal interphalangeal joints of the fingers. Histological examination shows epidermal hyperplasia increase of dermal collagen bundles and an increased number of fibroblasts. We report two cases of pachydermodactyly in male teenagers. Read More

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August 2004
6 Reads

Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

J Invest Dermatol 2004 Nov;123(5):856-63

Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability. The clinical features partially overlap with Vohwinkel syndrome and Keratitis-Ichthyosis-Deafness syndrome, both disorders caused by dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26, suggesting an etiological relationship. We report here a novel GJB2 mutation N54K segregating in a family with BPS, which was not detected in 110 control individuals of Northern European ancestry. Read More

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November 2004
3 Reads

Pseudo-knuckle pads: an unusual cutaneous sign of obsessive-compulsive disorder in an adolescent patient.

Emel Calikoğlu

Turk J Pediatr 2003 Oct-Dec;45(4):348-9

Department of Dermatology, Fatih University, Faculty of Medicine, Ankara, Turkey.

Knuckle pads are discrete benign cutaneous lesions overlying the extensor surfaces of the fingers and hand joints and are unrelated to trauma, whereas pseudo-knuckle pads may be considered as a form of callosity that appears after repeated trauma. This type of knuckle pad has been described in children with obsessive behavior as "chewing pads" and in adults as occupational disorder. Cases of pachydermodactyly, benign fibromatosis of the fingers, have been described as the unusual forms of knuckle pads that usually affect young adult males. Read More

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February 2004
3 Reads

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.

Am J Med Genet A 2003 Jul;120A(3):345-9

Research Institute of Medical Genetics, School of Medicine, Shandong University, Jinan Shandong, People's Republic of China.

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominantly inherited disease. We studied a family from Shandong, China, having patients suffering from EPPK with a unique symptom-knuckle pads. We noticed that both the hyperkeratosis and knuckle pads in the Chinese family were friction-related. Read More

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July 2003
2 Reads