Lending a helping hand to our patients with Dupuytren’s disease
By Warren R. Heymann, MD, FAAD
Oct. 26, 2022
Vol. 4, No. 43
When patients trust you, they want your opinion, even if the disorder in question is out of your bailiwick. Although likely to refer patients with Dupuytren’s disease (DD, aka Dupuytren’s contracture, DC) directly to an orthopedic (hand) surgeon, we dermatologists should have at least a rudimentary knowledge of the malady to help guide our patients.
DD is a connective tissue disorder of the hand characterized by excessive fibrosis of the palmar and digital fascia that may progress to a disabling contracture. DD is common, affecting approximately 3% of the population, and 12% in those older than 55 years. DD appears later in life (fifth decade), more often in men and those of Northern European descent; the incidence rate increases with age. The fourth and fifth digits around the metacarpophalangeal and proximal interphalangeal joints are the most frequently involved sites. (1,2,3) DD is part of the polyfibromatosis spectrum, where it occurs in variable combinations with plantar fibromatosis (Ledderhose’s disease) in 5%, penile fibromatosis (Peyronie’s disease) in 3%, and occasionally with knuckle pad and keloids. (1,4) This commentary will focus on DD (DC).
DD appears in three stages: A (asymptomatic nodules); B (progressive cords); and C (permanent contractures). The physical examination includes the Hueston test, which is performed by placing the patient’s hand on a flat surface, with fingers extended. A positive test occurs when the fingers cannot lay flat, thereby forming an angle of at least 30 degrees at the metacarpophalangeal joint. (1) Early recognition and treatment of DD may prevent disease progression.
Although the precise pathophysiology of DD is unknown, there are emerging concepts, focusing on genetic, immunological, and environmental factors (such as smoking and alcohol). (1) DC has been linked to psoriasis, notably palmoplantar disease, being observed in 19.6% of psoriatic patients compared to 3.6% of controls. (5) DC may also be associated with diabetes, HIV, epilepsy, and manual labor. (1) Anticonvulsant medications and BRAF inhibitors such as vemurafenib have been implicated as being pathogenic. (6)
Although sporadic cases occur, there is a substantial heritability in DD, which has been noted in up to 80% of cases in a recent study from Denmark. A genome-wide association study identified 9 susceptibility genetic loci in DD, 6 of which harbored genes encoding proteins in the Wnt signaling pathway. (1,3) In a study identifying key cellular and molecular pathways driving DD, Dobie et al employed single-cell RNA sequencing, profiling the transcriptomes of 35,250 human single cells from DD, nonpathogenic fascia, and healthy dermis. The authors identified a DD-specific population of pathogenic PDPN+/FAP+ mesenchymal cells displaying an elevated expression of fibrillar collagens and profibrogenic genes. Subsequent analysis demonstrated that resident fibroblasts were the source of this pathogenic population. Genes differentially expressed during fibroblast differentiation were identified, including upregulated TNFRSF12A and transcription factor SCX. Knockdown of SCX and blockade of TNFRSF12A inhibited the proliferation and altered the profibrotic gene expression of cultured human FAP+ mesenchymal cells, demonstrating a functional role for these genes in DD. (7) Ultimately, various cytokines and growth factors (PDGF, TGF-b1 TNF, IL-1b, and IL-6), in concert with diminished extracellular matrix maintenance of homeostasis, results in myofibroblast proliferation with an accumulation of type III collagen in aponeurosis and ligaments ordinarily composed of type I collagen. (1,7) These findings could have therapeutic implications.
Treatment of DD may be considered non-surgical and surgical. In very early cases, observation may be appropriate. Physical therapy, injection of collagenase, and intralesional triamcinolone may be utilized. Radiation (8) and fractionated CO2 laser (9) have shown efficacy. Surgery remains the gold standard, with a partial open fasciotomy being the most common procedure. (1)
In conclusion, you will routinely be seeing patients with DD. Acknowledge it and refer accordingly. Lending your helping hand may help theirs.
Point to Remember: Dupuytren’s disease is common and potentially debilitating. Early recognition and referral may prevent contracture formation by non-surgical and surgical means. Advanced molecular studies may herald novel therapeutic interventions.
Our expert’s viewpoint
David A. Fuller, MD
Professor of Orthopaedic Surgery, Cooper Medical School of Rowan University
Chief and Chair, Department of Orthopaedic Surgery, Cooper University Hospital
Dupuytren’s Disease (DD) of the hand is a benign, fibroproliferative process that causes hand dysfunction through contracture of the palmar skin. Any finger or even the thumb can be involved. Hand function becomes increasingly compromised as the flexion deformity worsens. Diagnosis is based upon history and clinical examination. Early and proper diagnosis is particularly important to help avoid unnecessary biopsy or other diagnostic studies. The MP joint is the most common site of contracture, followed by the PIP joint and rarely the DIP joint. While the disease process originates in the palmar fascia of the skin, secondary joint contractures can develop in the ligaments and capsules of the joints based upon the chronicity of the skin contracture.
Intervention is indicated once the patient demonstrates a positive Hueston tabletop test as described above. However, with a clear trend toward less invasive treatments, patients will often seek intervention prior to the traditional treatment indications of a 30 degree MP flexion contracture or any PIP flexion contracture. Regardless of the intervention that is chosen, DD is a lifetime disease process and recurrence is almost assured as life expectancy increases. The available interventions for DD are probably better viewed as complementary tools in our armamentarium to treat this disease process, each with its own cost and risk/benefit profile, rather than competing treatments trying to achieve supremacy.
Most patients will opt for a less invasive intervention as a first line treatment. Collagenase clostridium histolyticum injection (CCHI) treatment has gained great popularity over the last decade and is now a proven, safe, and cost-effective treatment. A joint manipulation is necessary 24 hours following the CCHI, which is performed in the office using a local anesthetic. Skin tears are the most common complication following CCHI treatment occurring in as many as 10% of the treated hands after manipulation. Radiation, laser, and shock wave treatments offer the hope for less invasive treatment, however, they do not seem to have the more widespread acceptance that CCHI currently does.
Needle fasciotomy (NF) remains a less invasive viable treatment option compared to surgical fasciectomy. For the NF, the contracted cord of palmar fascia is punctured with multiple passes of a needle tip and then the finger is manipulated. If the cord is adequately weakened with the NF, then the manipulation can rupture the residual cord in a similar fashion to the manipulation after CCHI. Clinical results can be similar between NF and CCHI. More distally in the digits, where the skin is thinner and the neurovascular structures may be more vulnerable, complications of these less invasive procedures may be higher.
Surgery has long been the gold standard treatment with excellent outcomes and still may be a viable first-choice treatment for some patients. Surgery is the most invasive and has the longest recovery period, but still seems to be the approach that can most fully remove the disease with a single treatment. Surgery has variations and requires careful planning to either simply release the fascial cord (fasciotomy), remove the fascial cord (fasciectomy), or remove the fascial cord as well as the overlying skin (dermofasciectomy). The dermofasciectomy will require either a skin graft or an open granulating wound but may still be associated with the lowest recurrence rate of all treatments.
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Sun Q, Fu B, Li S, Fang H, Qiao J. Case Report: Cutaneous Squamous Cell Carcinoma Arising From the Ulcer of the Lesions of Dupuytren's Disease on the Palm. Front Oncol. 2021 Mar 25;11:638395. doi: 10.3389/fonc.2021.638395. PMID: 33842344; PMCID: PMC8027102
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Vandersleyen V, Grosber M, Wilgenhof S, De Kock J, Neyns B, Gutermuth J. Vemurafenib-associated Dupuytren- and Ledderhose palmoplantar fibromatosis in metastatic melanoma patients. J Eur Acad Dermatol Venereol. 2016 Jul;30(7):1133-5. doi: 10.1111/jdv.13268. Epub 2015 Aug 24. PMID: 26303964.
Dobie R, West CC, Henderson BEP, Wilson-Kanamori JR, Markose D, Kitto LJ, Portman JR, Beltran M, Sohrabi S, Akram AR, Ramachandran P, Yong LY, Davidson D, Henderson NC. Deciphering Mesenchymal Drivers of Human Dupuytren's Disease at Single-Cell Level. J Invest Dermatol. 2021 Jul 16:S0022-202X(21)01453-6. doi: 10.1016/j.jid.2021.05.030. Epub ahead of print. PMID: 34274346.
Eberlein B, Biedermann T. To remember: Radiotherapy - a successful treatment for early Dupuytren's disease. J Eur Acad Dermatol Venereol. 2016 Oct;30(10):1694-1699. doi: 10.1111/jdv.13773. Epub 2016 Jul 18. PMID: 27428598.
Rivers JK, Zarbafian M. Improvement of Dupuytren Disease After Treatment With a Fractionated CO2 Laser. Dermatol Surg. 2021 Jan 1;47(1):153-154. doi: 10.1097/DSS.0000000000002159. PMID: 31567489.
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