Kindler syndrome complicated by squamous cell carcinoma of the hard palate: successful treatment with high-dose radiation therapy and granulocyte-macrophage colony-stimulating factor

Sir, Kindler syndrome is a rare inherited disorder characterized by skin fragility, blistering upon mechanical trauma, and photosensitivity.1,2 We report a 34‐year‐old woman with Kindler syndrome, in whom extensive involvement of the buccal mucosa was a prominent feature, and who developed unresectable squamous cell carcinoma (SCC) of the hard palate. Clinical features of the patient at age 19 years were reported by Hacham‐Zadeh and Garfunkel.3 Earliest signs included blisters over skin covered by nappies at infancy, and later blistering upon trauma and sun exposure. The most striking feature was the oral involvement. This included atrophied gingival mucosa, shallow gingival vestibulum, and macerated white plaques and erosions over buccal and palatine mucosae. Over the years, bulla formation had subsided, leaving cigarette paper‐like atrophic skin over her hands and feet, with a hint of webbing. Although the patient meticulously avoided sun exposure, extensive poikilodermatous changes had developed in exposed skin. Histopathology showed intraepidermal cleavage, although vacuolization of basal keratinocytes with single cell necrosis was seen on one occasion. Immunohistochemistry using LH7 : 2 (decorating type VII collagen) and GB3 (antilaminin 5) showed positive staining, as seen with the native conformation, consistent with epidermolysis bullosa (EB) simplex.