CED

Clinical dermatology • Concise report

Clinical and Experimental Dermatology

A new subtype of pachydermodactyly: unilateral pachydermodactyly transgrediens J. P. Nicolay,1,2 J. Faulhaber,1,3 H. Kutzner4 and S. W. Schneider1 1 Department of Dermatology, Venereology and Allergy, University Medical Center Mannheim, Ruprecht-Karls-University of Heidelberg, Mannheim, Germany; 2Department of Immunogenetics, German Cancer Research Center (DKFZ), Heidelberg, Germany; 3Dermatologische Gemeinschaftspraxis Dr. Weller, Prof. Dr. Faulhaber & Kollegen, Schwaebisch Gmuend, Germany; and 4Institute of Dermatopathology, Friedrichshafen, Germany

doi:10.1111/ced.12617

Summary

Pachydermodactyly describes a rare condition of localized fibromatosis, usually symmetrically affecting the interphalangeal joints of both hands. We describe a case of a new subtype of pachydermodactyly in a 14-year-old boy, which we term ‘unilateral pachydermodactyly transgrediens’. This atypical pattern is caused by specific localized mechanical manipulation of the hands. This condition contributes to the completely indolent spectrum of pachydermodactyly, and usually does not need therapy. Therefore it is essential not to misinterpret it as an inflammatory state such as juvenile idiopathic arthritis. The correct diagnosis of pachydermodactyly and its rare subtypes, as we describe in this case, often spares the affected patients unnecessary invasive diagnostic procedures and immunosuppressive therapy.

Swelling of the finger joints and phalanges potentially indicates a wide variety of differential diagnoses such as rheumatoid arthritis, lymphoedema, scleroderma and pachydermodactyly. Strict discrimination between these conditions is essential, as they require different diagnostic and therapeutic regimens. Rheumatic and inflammatory diseases need immunosuppressive or anti-inflammatory medication, in contrast to lymphoedema, which requires mainly lymph drainage. In this report, we present a new subtype of pachydermodactyly, which represents a rare condition of finger or hand swelling.

Report A 14-year-old boy presented with indolent indurate swelling of his left hand. He had previously undergone ultrasonographic examination, which had revealed the thickened and augmented synovia in the fourth and €t Correspondence: Professor Stefan W. Schneider, Medizinische Fakulta Mannheim der Ruprecht-Karls-Universit€ at Heidelberg, 1-3 Theodor-KutzerUfer, 68135 Mannheim, Germany E-mail: [email protected] Conflict of interest: the authors declare that they have no conflicts of interest. Accepted for publication 24 September 2014

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fifth proximal interphalangeal joints and in the fourth distal interphalangeal joints. Based on these results, he had been treated for 5 months with anti-inflammatory and immunosuppressive drugs, including ibuprofen, corticosteroids and methotrexate under the suspicion of juvenile idiopathic arthritis (JIA), but there had been no clinical improvement. In addition, magnetic resonance imaging had been performed, and showed no pathologies within the left hand. Extensive laboratory testing had not shown any abnormalities, and in particular, there were no signs of inflammation or autoantibodies in the peripheral blood tests. On physical examination, the patient was found to have swelling of the third to fifth fingers and the lateral and hypothenar areas of his left hand (Fig. 1). The skin in this area also seemed thickened upon palpation. Clinically, the patient showed no signs of inflammation. Histologically the lesion was characterized by condensed connective tissue and an increased number of CD34-positive fibroblasts in the deep corium as well as the absence of any inflammatory infiltrate (Fig. 2). Under the suspicion of local mechanical stress, we questioned the patient about repeated manipulation, which he denied. However, later during the visit, he unconsciously rubbed his hand. Repeated questioning

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A new subtype of pachydermodactyly  J. P. Nicolay et al.

revealed that the patient frequently rubbed his left hand when experiencing strong emotions such as joy or stress. He also demonstrated his typical gesture; the rubbing exactly correlated with the anatomical localization of the clinical lesion. The patient’s mother and brother confirmed that the boy repeated this gesture several times a day. Based on the characteristics of the lesion and the history of mechanical distress, we diagnosed the patient as having unilateral pachydermodactyly transgrediens. This clinical presentation does not require treatment other than by changing the rubbing habit. If this is a sign of psychological distress, a child psychiatrist should be consulted. If the lesion is causing the patient distress, intralesional steroid injection1,2 or in rare cases even localized subcutaneous resection can be considered.3 Pachydermodactyly represents a rare form of localized fibromatosis, with < 100 cases described in the literature. This disease is most probably greatly underdiagnosed, and thus in fact not a rare condition,

as the symptoms are often mistaken for other diseases. The overwhelming majority of pachydermodactyly cases are localized symmetrically to both hands, and almost exclusively restricted to the proximal finger joints of second to fifth fingers. It usually affects young male patients, and has been suggested to originate from tic-like or ritualistic habits, as well as repetitive movements linked to mechanical stress.4 Our case differs from the typical presentations in the literature by two major points. First, the localization is atypical, as the lesion exceeded the finger joints by including the hypothenar side of the left hand, thus we consider this form must be subspecified as pachydermodactyly transgrediens.5,6 Second, the presentation is normally symmetrical and bilateral on the finger joints of both hands, but in our patient, only the left hand was affected, which correlated with his rubbing behaviour. Only two cases of this unilateral form have been described in the literature,7,8 as well as a few cases of

CD34 Figure 2 CD34 staining of the patient’s skin biopsy showing conFigure 1 Unilateral pachydermodactyly transgrediens: picture of

the patient’s hands. The arrows indicate the indurate and swollen areas.

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densation of the connective tissue and increased number of CD34-positive fibroblasts in the mid and deep dermis. Original magnification (overview) 9 50; (detail) 9 40.

ª 2015 British Association of Dermatologists

A new subtype of pachydermodactyly  J. P. Nicolay et al.

pachydermodactyly transgrediens. Unlike in our case, the transgredient character of the lesion in these cases did not definitely correlate with any behaviour that could explain the localization of the lesion. Thus, the missing causal and anatomical connection between the lesions may raise doubts if the lesions is seen in the context of just one disorder. To our knowledge, our described case is the only one to combine these two rare subtypes, resulting in unilateral pachydermodactyly transgrediens. The diagnosis of pachydermodactyly is not necessarily an easy one, as patients typically deny any kind of mechanical stress. Therefore, despite its indolent behaviour, the presentation is frequently misinterpreted as an inflammatory disorder, often JIA, with subsequent invasive diagnostic procedures and eventually immunosuppressive therapy.9,10 Careful enquiry about possible tics or habits of mechanical stress is essential to identify any possible correlation and to confirm the diagnosis of pachydermodactyly. As in our case, it is often difficult to identify mechanical distress or tic-like behaviour as a reason for pachydermodactyly, because the patient is often not aware of such unconscious behaviour, or if aware, may be ashamed of it and thus deny it. As can be seen from our case, prompt diagnosis of pachydermodactyly and its rare subtypes is essential to avoid unnecessary invasive and expensive diagnostic procedures as well as immunosuppressive or antiinflammatory therapy. Our case adds a new subtype to the spectrum of pachydermodactyly, which emphasizes the importance of combining patient history and clinical features even in such atypical cases in order to differentiate indolent conditions from the multitude of rheumatological presentations.

Learning points • Pachydermodactyly describes an indolent swell-

ing of finger joints or thenar/hypothenar eminences. • Pachydermodactyly is often mistaken for a rheumatic or other inflammatory disease and unnecessarily treated with immunosuppressive therapy.

ª 2015 British Association of Dermatologists

• Typical history of repeated mechanical distress

(such as rubbing of the area, taking part in sport that may cause stress in that area) or tic-like mannerisms, as well as the absence of positive inflammatory signs, should raise the suspicion of pachydermodactyly. • Various atypical and asymmetrical subtypes have to be differentiated, which often correlate with the localization of mechanical distress. • No specific treatment is necessary, but patients are often very anxious about the symptoms and may receive unnecessary treatment.

References 1 Plana Pla A, Bassas Vila J, Toro Montecinos MA, Ferrandiz Foraster C. Pachydermodactyly successfully treated with triamcinolone injections. Actas Dermosifiliogr 2014; 105: 319–21. 2 Meunier L, Pailler C, Barneon G, Meynadier J. Pachydermodactyly or acquired digital fibromatosis. Br J Dermatol 1994; 131: 744–6. 3 Lautenschlager S, Itin PH, Rufli T. Pachydermodactyly: reflecting obsessive-compulsive behavior? Arch Dermatol 1994; 130: 387. 4 Beltraminelli H, Itin P. Pachydermodactyly—just a sign of emotional distress. Eur J Dermatol 2009; 19: 5–13. 5 Yanguas I, Goday JJ, Soloeta R. Pachydermodactyly: report of two cases. Acta Derm Venereol 1994; 74: 217– 18. 6 Vale LR, Coeli FR, Michalany N et al. Transgrediens pachydermodactyly: report of a case. An Bras Dermatol 2009; 84: 190–3. 7 Small S, Murthy V, Sridhar AV. A 12-year-old boy presenting with unilateral proximal interphalangeal joint swelling. BMJ Case Rep 2011; 2011. doi:10.1136/ bcr.01.2011.3719. 8 Ulusoy H, Tas NP, Akgol G et al. Unusual unilateral presentation of pachydermodactyly: a case report. Rheumatol Int 2012; 32: 1747–50. 9 Carpentier KG, Sevenants L, Wouters CH, Morren MA. Pachydermodactyly may mimic juvenile idiopathic arthritis. Clin Exp Rheumatol 2005; 23: 725. 10 El-hallak M, Lovell D. Pachydermodactyly mimicking juvenile idiopathic arthritis. Arthritis Rheum 2013; 65: 2736.

Clinical and Experimental Dermatology (2015) 40, pp633–635

635

A new subtype of pachydermodactyly: unilateral pachydermodactyly transgrediens.

Pachydermodactyly describes a rare condition of localized fibromatosis, usually symmetrically affecting the interphalangeal joints of both hands. We d...
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