Search Our Scientific Publications & Authors

Reumatismo 2021 Apr 19;73(1):67-69. Epub 2021 Apr 19.

Department of Medical and Biological Science, Rheumatology Clinic, University of Udine.

Knuckle pads or Garrod's nodes are a rare, non-inflammatory condition. They consist of benign, well-circumscribed fibro-adipose tissue over the small joints of hands and feet. Knuckle pads may be under-diagnosed and mistaken for early arthritis. Read More

Clin Case Rep 2021 Mar 28;9(3):1812-1813. Epub 2021 Jan 28.

Department of Dermatology Medical College of Georgia Augusta GA USA.

Videogame controller-induced knuckle pads may present in a strikingly unique distribution. Successful paring without recurrence can be achieved when combined with removal of the original insult. Read More

Clin Genet 2021 Apr 20;99(4):572-576. Epub 2021 Jan 20.

Department of Pediatrics, Division of Gastroenterology, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.

We describe an 11-year-old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a novel homozygous variant in CAST, the pathogenicity of which was confirmed using blood-derived RNA. There is no established treatment for PLACK syndrome. However, we demonstrate for the first time that this condition is associated with low levels of vitamin A and essential fatty acids, which prompted us to consider a potential treatment strategy. Read More

Comput Biol Med 2021 Feb 11;129:104174. Epub 2020 Dec 11.

Faculty of Sports Science, Ningbo University, Ningbo, 315211, China. Electronic address:

As a typical digitigrade mammal, the uniquely designed small distal limbs of the feline support two to three times of its body weight during daily movements. To understand how force transmission occurs in relation to the distal joint in a feline limb, which transfers bodyweight to the ground, it is necessary to examine the internal stress distribution of the distal joint limb in detail. Therefore, finite element models (FEM) of a healthy feline were established to predict the internal stress distribution of the distal limb. Read More

Pediatr Dermatol 2021 Jan 3;38(1):210-212. 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

SportPraxis, Hannover.