Transgrediens pachydermodactyly: report of a case

Abstracts

A paquidermodactilia é forma rara de fibromatose digital envolvendo as porções proximais dos dedos, que afeta homens jovens. Apresenta-se caso de paciente de 25 anos com quadro de nódulos assintomáticos nas mãos há dois anos, e há três meses com lesões semelhantes nos pés e no joelho direito. O exame histopatológico revelou espessamento da derme com proliferação de fibroblastos e de fibras colágenas e aumento de mucina. O caso descrito corresponde à paquidermodactilia do tipo transgressiva.

Corticosteróides; Dermatoses da mão; Fibroma

CASE REPORT

Transgrediens pachydermodactyly: report of a case

Lia Rachel Gomes do Vale^I; Flávia Regina Coeli^II; Nilceo Michalany^III; Karime Marques Hassun^IV; Adriana Maria Porro^V

^IResident Physician in Dermatology, Universidade Federal de São Paulo (UNIFESP) – São Paulo (SP), Brazil

IIPhysician, Specialization studies in Pediatric Dermatology under course, former resident of Dermatology, Universidade Federal de São Paulo (UNIFESP) – São Paulo (SP), Brazil

IIIPhysician, Department of Pathology, Universidade Federal de São Paulo (UNIFESP) – São Paulo (SP), Brazil

IVPhysician, Department of Dermatology. Master in Dermatology, Universidade Federal de São Paulo (UNIFESP) – São Paulo (SP), Brazil

VAssociate Professor, Department of Dermatology. Ph.D. in Dermatology, Universidade Federal de São Paulo (UNIFESP) – São Paulo (SP), Brazil

Mailing Address

ABSTRACT

Pachydermodactyly is a rare form of digital fibromatosis involving the proximal portions of the fingers that usually affects young males. We present a 25-year-old male patient with a twoyear history of asymptomatic nodules in the fingers. Three months before the visit, he had observed similar lesions on the feet and right knee. Histopathological analysis showed thickened dermis with proliferation of fibroblasts and collagenous fibers, with deposition of mucinous material. This represents a rare case of pachydermodactyly of transgrediens form.

Keywords: Adrenal cortex hormones; Fibroma; Hand dermatosis

INTRODUCTION

Pachydermodactyly is a rare benign form of digital fibromatosis that affects the proximal portion of the fingers especially in young male adults ¹. It was described by Verbov in 1975 ² and it is clinically characterized by asymptomatic increase of soft parts around the proximal phalanges and interphalangeal joints ³.

The case reported here is of a patient with pachydermodactyly of the hands and feet, in addition to pachydermia of the right knee.

CASE REPORT

Male 25-year-old patient, with history of mental retardation since birth, referring asymptomatic nodules on the hands that appeared about two years before and had progressively increased in size. Three months before the visit they had noticed similar lesions on the feet and right knee. The family did not report repetitive hand trauma or similar cases in the family.

General physical examination showed no abnormalities.

The dermatological examination showed nodules of fibroelastic consistency located on the lateral aspect of the right 2nd metacarpophalangeal joint (Figure 1), medial aspect of left 1^st metacarpophalangeal joint, back of bilateral first toe phalanges (Figure 2) and calcaneous. The skin around the proximal phalanges of the fingers and extensive aspect of the right knee was thickened.

Complementary tests were normal: complete blood count and uric acid (4.4 mg/dl). Hand x-ray: preserved bone morphology; maintained articular interlines; minor enlargement of soft parts at 3rd and 4th interphalangeal areas on the right and bilateral 2nd metacarpophalangeal area. Absence of periosteal thickness. Feet x-ray: normal bone texture and morphology, no evidence of focal bone lesions.

Soft part ultrasound of the hands showed solid formations with signs of vascularization inside it, heterogeneous and partially defined limits in the subcutaneous plan, measuring 2.5 X 0.9 X 1.8 cm on the basis of the right 2nd finger and 2.6 X 1.7 X 0.9 cm on the basis of left 1^st toe.

Skin histopathology test of the right 2^nd finger revealed marked thickness of dermis with hyperkeratosis. In the deep dermis, there was proliferation of fibroblasts and collagen fibers (Figure 3 and 4). Staining with colloidal iron showed mucin increase in the dermis (Figure 5).

The management approach was intralesion infiltration with triamcinolone acetonide at the concentration 20mg/ml, which led to regression of lesions after three applications.

DISCUSSION

Pachydermodactyly is a benign and non-painful condition that produces edema and skin thickness around the dorsal and lateral regions of phalanges and proximal interphalangeal joints of the fingers ⁴.

Several types of pachydermodactyly have been described depending on topography, etiology and pathological associations: 1) classical, in which there is affection of many fingers of both hands, which is attributed to local trauma; 2) monopachydermodactyly or localized pachydermodactyly, with affection of only one finger; 3) transgrediens pachydermodactyly in which there is skin thickness reaching other areas in addition to the fingers, such as metacarpophalangeal regions; 4) familial pachydermodactyly, and 5) pachydermodactyly associated with tuberous sclerosis 4. The case herein described corresponds to transgrediens pachydermodactyly,which includes involvement of fingers, metacarpal and metatarsophalangeal joints, in addition to plantar region and the right knee. The association of pachydermodactyly with pachydermal aspect on the knee had never been described. Only one report of association with plantar pachydermia was found ⁵.

Transgrediens type is an exceptional form of pachydermodactyly, with few cases described in the literature. It is characterized by extension of skin thickness of the fingers to metacarpophalangeal regions. In our patient, this fact was observed in the involvement of the left 1st metacarpophalangeal joint and the right 2nd metacarpophalangeal joint. Moreover, there was pachydermal aspect on the regions of calcaneous, metatarsophalangeal joints and right knee ⁶.

The etiology of pachydermodactyly remains unknown. It is normally an acquired disease, even though there are some publications that document family cases ^{4, 7}. It has been suggested that repetitive mechanical traumas, such as the habit of rubbing the fingers, could lead to skin thickness ¹. In the case reported here, there was no repetitive stimuli of the fingers, even though the patient had intellectual deficit.

Histopathology analyses normally reveal hyperkeratosis and significant thickness of dermis owing to deposits of collagen fibers, with different levels of cellularity. These findings are compatible with those observed in the patient described here. Collagen types III and V were increased and electron microscopy showed increase of fine collagen fibers. There might have been mucin depositsamong collagen fibers ⁸.

Differential diagnosis of pachydermodactyly should be made with knuckle pad, whose distinction is made through the location of volume increase around the proximal interphalangeal joints: dorsal in the knuckle pad and predominantly lateral in pachydermodactyly. Moreover, knuckle pad may be found in both genders within a broad age range ¹. Other possible differential diagnosis are foreign body granuloma, fibroma and arthropathy ⁹. There should be no confusion with pachydermoperiostosis, in which there is dominant autosomal heritage, digital clubbing, and bone and scalp findings ^{10, 11}.

The coexisting conditions related with pachydermodactyly include tuberous sclerosis, macular atrophy varioliform cutis, Dupuytren contracture, carpal tunnel syndrome, and Ehlers-Danlos syndrome ⁸.

Treatment of pachydermodactyly consists of suspension of repetitive mechanical stimuli (if applicable), use of intralesion corticoid or complete excision of the lesion 11. In the care reported here, we used treatment with infiltration of intralesion corticoid, which led to significant improvement of lesions.

Pachydermodactyly is a rare disease, not very well known and probably under notified. We have reported a case of transgrediens pachydermodactyly associated with plantar and knee involvement, which had never been described in the literature.

REFERENCES

• 1. Kim TH, Cho YH, Park HB. Two cases of pachydermodactyly. J Dermatol. 1996;23:419-24.
• 2. Verbov J. Pachydermodactyly: a variant of the true knuckle pads. Arch Dermatol. 1975;111:524.
• 3. Kopera D, Soyer HP, Kerl H. An update on pachydermodactyly and a report of three additional cases. Br J Dermatol. 1995;133:433-7.
• 4. Bardazzi F, Neri I, Raone B, Patrizi A. Pachydermodactyly: seven new cases. Ann Dermatol Venereol. 1998;125:247-50.
• 5. Marcilly MC, Balme B, Luaute JP, Skowron F, Berard F, Perrot H. Pachydermatodactyly associated with plantar pachydermy. Ann Dermatol Venereol. 2003;130 (Pt 1):777-80.
• 6. Sola A, Vazquez-Doval J, Sola J, Quintanilla E. Pachydermodactyly transgrediens. Int J Dermatol. 1992;31:796-7.
• 7. Russo F, Rodriguez-Pichardo A, Camacho F. Familial pachydermodactyly. Acta Derm Venereol. 1994;74:386-7.
• 8. Burrows NP, Lovell CR. Disorders of Connective Tissue. In: Burns T, Breathnach S, Cox N, Griffiths C. Rook 's textbook of dermatology. 7th ed. Massachusetts: Blackwell Science; 2004. p 46-50.
• 9. Ye S, Chen S, Dong Y, Lin F, Guo Q, Bao C. Pachydermodactyly Six new cases from China. J Clin Rheumatol. 2005;11:72-5.
• 10. Rai A, Zaphiropoulos GC. An Unusual case of peri-articular soft tissue finger swelling in an adolescent male: pachydermodactyly or pachydermoperiostosis? Br J Rheumatol. 1994;33:677-9.
• 11. Chamberlain AJ, Venning VA, Wojnarowska F. Pachydermodactyly: a forme fruste of knuckle pads? Australas J Dermatol. 2003;44:140-3.

Endereço para correspondência:

Lia Rachel Gomes do Vale

Rua Estado de Israel, 701 Apto. 23 Vila Clementino

04022 002 - São Paulo – SP

Tel./fax: [phone]

*

Trabalho realizado nos departamentos de Dermatologia e Patologia da Universidade Federal de São Paulo (Unifesp) – Escola Paulista de Medicina – São Paulo (SP), Brasil.

Publication Dates

• Publication in this collection
  03 June 2009
• Date of issue
  Apr 2009

History

• Received
  20 Sept 2006
• Accepted
  28 Sept 2007