Unilateral pachydermodactyly in a Saudi boy: A rare presentation

Lamia Al Akrash; Alanoud Al Huqayl; Ahmed Al Humidi; Abdulrahman Al Jamal

doi:10.4103/jdds.jdds_8_19

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CASE REPORT

Year : 2020 | Volume : 24 | Issue : 2 | Page : 130-132

Unilateral pachydermodactyly in a Saudi boy: A rare presentation

Lamia Al Akrash¹, Alanoud Al Huqayl², Ahmed Al Humidi³, Abdulrahman Al Jamal²
¹ Department of Dermatology, King Fahad Medical City, Riyadh, Saudi Arabia
² Department of Dermatology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
³ Department of Pathology, Kind Saud University, Riyadh, Saudi Arabia

Date of Submission	06-Feb-2019
Date of Acceptance	22-Jun-2019
Date of Web Publication	10-Nov-2020

Correspondence Address:
Dr. Lamia Al Akrash
Department of Dermatology, King Fahad Medical City, P.O. Box: 11421, Riyadh
Saudi Arabia

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jdds.jdds_8_19

Abstract

Pachydermodactyly (PDD) is a rare, acquired idiopathic form of digital fibromatosis. PDD typically presents as asymptomatic swelling of the second to fourth proximal interphalangeal joints bilaterally in young males. Here, we present an acquired unilateral PDD in a Saudi boy with emphasis on the clinical, radiological, and histopathological features. In conclusion, PDD is a benign disease; a prompt recognition would prevent irrelevant workup and reassure patients.

Keywords: Digital fibromatosis, pachydermodactyly, unilateral

How to cite this article:
Al Akrash L, Al Huqayl A, Al Humidi A, Al Jamal A. Unilateral pachydermodactyly in a Saudi boy: A rare presentation. J Dermatol Dermatol Surg 2020;24:130-2

How to cite this URL:
Al Akrash L, Al Huqayl A, Al Humidi A, Al Jamal A. Unilateral pachydermodactyly in a Saudi boy: A rare presentation. J Dermatol Dermatol Surg [serial online] 2020 [cited 2020 Dec 4];24:130-2. Available from: https://www.jddsjournal.org/text.asp?2020/24/2/130/300401

Introduction

Pachydermodactyly (PDD) was initially identified by Bazex in 1973.^{[1],[2],[3],[4],[5],[6],[7],[8]} PDD is a pathological thickening of the skin around the proximal interphalangeal (PIP) joints.^[2] Only a few cases have been reported, perhaps because of low incidence or misdiagnosis.^[2] We present a patient with acquired PDD in an unusual unilateral distribution.

Case Report

A 15-year-old Saudi boy, not known to have any medical illnesses, presented to our dermatology outpatient clinic with a 2-year history of asymptomatic swelling of the second to fifth PIP joints on the right hand, sparing the thumb. The patient had a history of cracking his knuckles on the affected hand on a daily basis and rubbing his right index finger by his fingers. There had been no notable size or shape changes since the onset. No functional limitation of movement in the affected joints was apparent. There was no other joint symptom, and a systemic review was unremarkable. There was no family history of a similar complaint.

A clinical examination of the right hand revealed painless, diffuse, ill-defined soft tissue swelling of the lateral aspects of the PIP joints of the second to fifth fingers on the right hand [Figure 1], with an overlying well-defined erythematous scaly plaque over the right index finger [Figure 2]. The mucous membranes and nails were not affected.

Figure 1: Unilateral diffuse soft tissue swelling of dorsolateral second to fifth proximal interphalangeal joints of the right hand

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Figure 2: Solitary well-defined erythematous scaly plaque over the dorsum of the right index

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In the differential diagnosis, we included synovitis, arthritis, knuckle pads, PDD, and pachydermoperiostosis.

All baseline laboratory investigations (complete blood cell count, renal and liver function tests, C-reactive protein test, and erythrocyte sedimentation rate), including the serum antinuclear antibody, rheumatoid factor, anticyclic citrullinated peptide antibody, C3, and C4, were unremarkable. An ultrasound of the right hand was unremarkable. An X-ray of the right hand showed diffuse soft tissue swelling at the PIP with preserved joint spaces, and there was no evidence of periarticular bony erosions. A magnetic resonance imaging (MRI) of the right hand showed intact flexor and extensor tendons and no soft tissue masses, normal osseous structures, and neurovascular bundles. A skin punch biopsy was taken from the right index finger at the level of PIP joint and sent for histopathology analysis. The results showed: unremarkable epidermis and dermis [Figure 3], with positive colloidal iron stain indicating increased dermal mucin depositions [Figure 4].

Figure 3: Hematoxylin and eosin stain shows unremarkable epidermis and dermis. (original magnification, ×100)

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Figure 4: Colloidal iron stain shows increased dermal mucin (colloidal iron stain, original magnification, ×100)

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By excluding any signs of underlying joint diseases or soft tissue masses, a diagnosis of PDD was attained.

Discussion

PDD is a rare acquired idiopathic form of digital fibromatosis. It classically presents in healthy adolescent boys as a soft tissue swelling of the lateral aspects of the second to fourth PIP joints bilaterally and rarely involves the fifth PIP joint.^[9],[10] It could be related to mechanical trauma, psychological stress, or psychiatric illnesses.^[2] PDD may be associated with certain diseases such as tuberous sclerosis, carpal tunnel syndrome, Dubuytren's contracture, and atrophia maculosa varioliformis cutis.^[8]

In our case, the associated overlying skin changes are suggestive of lichen simplex chronicus that developed secondary to frequent rubbing. This finding has never been reported to be associated with PDD.

To make a diagnosis, the following criteria may be used: (1) the patient has no symptoms; (2) there is absence of joint stiffness in the morning; (3) there is absence of pain with movement and tenderness to palpation; (4) finger swelling is radial or ulnar in location, rather than circumferential; (5) laboratory test results are unremarkable; and (6) plain radiographs show only soft tissue swelling. With these typical findings, additional investigations, such as an MRI or skin biopsy, are rarely needed to establish a diagnosis of PDD.^[7]

The classic histopathological findings in PDD are thickened, haphazardly arranged collagen bundles in dermis and mucin deposition.^[3] In contrast to our case, which showed no abnormal alterations in collagen fibers. In addition, mucin-specific stains revealed excessive mucin deposition. These findings raise the possibility of classifying PDD under cutaneous mucinoses rather than fibromatoses. However, further reports and studies are needed to confirm these findings.

For the management of PDD, reassurance and avoidance of mechanical trauma are the mainstay of management. Intralesional triamcinolone acetonide injections,^[6] methylprednisolone injections,^[4] and oral tranilast,^[5] have been reported. There are few cases that were reported in the literature with unilateral PDD.^{[1],[9],[10],[11]} Although it is a rare entity, physicians should be aware of the clinical presentation of PDD to distinguish it from inflammatory joint diseases. A rapid diagnosis and recognition of PDD may prevent unnecessary investigations, reassure patients, and avoid inappropriate treatment.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In case of minors, patient consent have been obtained from parents or guardians. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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