Squamous cell carcinoma in dominant type epidermolysis bullosa dystrophica

Abstract

The unusual genetic disorder epidermolysis bullosa dystrophica has been reported in several patients in whom the chronic cutaneous scars led to the development of cutaneous squamous cell carcinoma. However , only one of these previously reported cases involved the autosomal dominant form of the disease; the remainder occurred in its recessive counterpart. We report the second and third patients with squa-mous cell carcinoma associated with the dominant form of epidermolysis bullosa dystrophica. In addition , we not only observed the previous electron microscopic findings of decreased numbers of anchoring fibrils beneath the basal lamina but have also noted marked disruption of the basal lamina itself. Cancer 47:615-620, 1981. HE DOMINANT FORM of epidermolysis bullosa T dystrophica is an uncommon genodermatosis. The basic defect has been demonstrated to occur high in the dermis with blisters occurring beneath the basal lamina. Previous electron microscopic studies have shown the primary abnormality to be a defect in the anchoring fibrils beneath the basal lamina. Our study not only shows abnormalities in the anchoring fibrils but also reveals actual disintegration of the basal lamina itself into what appears to be amorphous debris. In addition, this presentation of a 59-year-old male and his 55-year-old cousin constitutes the second and third reported cases of the dominant form of epidermolysis bullosa dystrophica associated with squamous cell carcinoma in the areas of chronic atrophic scarring. Case Reports Case I A 59-year-old male with a lifelong history of blistering disease of the skin was first seen at the Dermatology Clinic at From the Roswell Park Memorial Institute in 1972. He was referred t'oi evaluation of possible squamous cell carcinomaon his leg. He had a history ofeasy blistering with trauma involving skin surfaces since childhood. The blistering had become more severe on the extremities since 1963. Severe contractures with scarring and adhesions began to incapacitate him in 1968. The patient denied dysphagia or problems with bowel movements. He has a strong family history for this disorder (Fig. I). I n 1971, an ulcer developed on his right lower leg, which was biopsied for possible squamous cell carcinoma. At that time. he had an excision and split-thickness skin graft. The biopsy showed pseudoepitheliomatous hyperplasia. Repeat biopsy at the time of referral showed squamous cell carcinoma. Several treatment modalities were employed, including Tubercidin, 5-fluorouracil ointment 20%, and purified protein derivative injection followed by debridement and skin grafting , with only temporary improvement. In 1978, a below-the-knee amputation was performed. Right inguinal nodes had been enlarged for years, but needle aspiration revealed only lymph node hyperplasia. Physical examination showed no abnormality except for the skin. The patient had widespread areas of blistering on his extremities and lower back, often in oval or nunimular pat-FIG. 1. Genealogy chart. Genealogy of family and appearance of e...

Epidermolysis bullosa and the risk of life-threatening cancers: The National EB Registry experience, 1986-2006

“…Reed et al further provided evidence to suggest that these tumors frequently resulted in death from metastases (having occurred in over two thirds of all previously reported patients). Others have since published case reports or small case series confirming this association and suggesting that SCCs also arise in DDEB 16,17 and JEB. [18][19][20][21][22] There has also been a report of a child with RDEB in whom a superficial spreading MM arose.…”

Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases

“…Due to its toxicity, systemic chemotherapy is generally avoided for EB patients, and there are only four reports of its use in EB associated cSCC [21, 27–29]. Lentz et al , showed good tolerance for two patients with RDEB; one of them was treated with cisplatin alone, the other one with a combination 5-FU-cisplatin, with no significant toxicity to the skin or oral mucosa.…”

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa

“…When using radiotherapy, consideration needs to be given to severe desquamation that can follow larger total radiation doses. Conventional chemotherapy has been used in cases of advanced EB SCCs (32)(33)(34)(35). Agents have included cisplatin, carboplatin, paclitaxel, fluorouracil, doxorubicin and methotrexate.…”