Invasive Squamous Cell Carcinoma of the Hand in a Patient with Kindler Syndrome: Case Report and Literature Review

Abstract

A 23-year-old woman with a history of Kindler syndrome was referred to the department of plastic surgery (Sherbrooke University, Sherbrooke, Quebec) with an ulcerated vegetating tumour in her right hand, which was progressive over a sixmonth period. The patient was from Bosnia and the diagnosis of Kindler syndrome was made at 11 years of age. She had a history of acral blistering in infancy and childhood, progressive photosensitivity and occasional gingivitis. She was treated at 18 years of age for esophageal stenosis and at 22 years of age with labiaplasty for vulva malformation. The patient reported no recent history of asthenia or increased fatigue. On physical examination, she had fragile 'cigarette paper-like' skin with aged appearance, palmoplantar hyperkeratosis and poikiloderma. She also had bilateral syndactylism of the second, third and fourth interdigital spaces. As for the lesion, it covered the radial portion of her right hand palm and it extended to the proximal phalanges of the second and third digits, restricting range of movement of the latter. The lesion measured approximately 8 cm × 6 cm × 3 cm (Figure 1). There was no neurovascular injury. There were verrucous-like lesions on the dorsum of the second and third digits of the same hand.Magnetic resonance imaging showed a polylobulated mass with the following diameters: 8.1 cm craniocaudal, 6.1 cm transverse and 3.1 cm anteroposterior. The epicentre was located at the head of the second and third metacarpals over the palmar aspect of soft tissues. The radial side of the second radius was Kindler syndrome is a rare, autosomal, recessive genodermatosis characterized by trauma-induced acral blisters in infancy and childhood, photosensitivity and progressive poikiloderma. Very few cases in the literature report an association with squamous cell carcinoma, even though it is a very well-known, long-term complication. A case involving a 23-year-old woman with a history of Kindler syndrome who was admitted to the department of plastic surgery (Sherbrooke University, Sherbrooke, Quebec) with an extensive ulcerated squamous cell carcinoma of the right hand is presented. A local excision of the tumour was initially performed, but positive margins and clinically palpable axillary lymphadenopathy over the course of hospitalization necessitated below-elbow amputation and lymph node dissection. To the authors' knowledge, this is the second reported case of aggressive metastatic squamous cell carcinoma of the hand in a patient with Kindler syndrome.

Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines

“… If regional lymph nodes are clinically palpable at the time of presentation of the SCC, ultrasound‐guided FNA (or, in the case of inconclusive results at repeated FNA, surgical biopsy) should be undertaken to look for the presence of SCC . If negative, no further evaluation is necessary, although lymph nodes should be examined every 3 months and rebiopsied if there is evidence of further enlargement.…”

“…If negative, no further evaluation is necessary, although lymph nodes should be examined every 3 months and rebiopsied if there is evidence of further enlargement. It should be noted that clinical evaluation may be difficult if there is significant axillary scarring making lymph node palpation difficult, in which case ultrasound evaluation may be helpful. If lymph node biopsy is positive for metastatic SCC, regional lymph node dissection should be considered . This can usually be carried out at the time of surgical excision of the primary SCC. Sentinel lymph node biopsy (SLNB) may be undertaken in patients with EB presenting with SCC .…”

“…localized bony pain, deranged liver function tests, breathlessness), should undergo staging. Where available, FDG‐PET with CT scanning should be undertaken. In interpreting the results, it should be noted that in EB there may be nonspecific uptake of isotope on PET scanning from chronic skin wounds, reactive lymph nodes, the oesophagus and bone marrow, but combination with CT scanning can help to clarify the significance of increased uptake Where PET scanning is not available, a CT or magnetic resonance imaging scan of the chest, abdomen and pelvis may identify systemic or lymph node metastases. If CT scanning is unavailable, abdominal ultrasonography and/or bone scanning may help to identify systemic metastases. …”

“…Wide local excision is considered the treatment of choice for EB SCCs . However, if imaging demonstrates involvement of underlying structures such as vessels, nerves or tendons, this approach may not be possible and more radical surgery (generally amputation) may be needed.…”

“…Where the size or anatomical location of an EB SCC means that excision is not possible, it may be necessary to consider amputation of the digit or limb . (Strength of recommendation D, quality of evidence III.…”