CLINICAL Q&A – ANSWER 2

Clinical Q+A in Oral Medicine

THE CORRECT DIAGNOSES IS:

Hailey Hailey Disease Darier Disease

Answer 2

Differential diagnosis for this presentation includes Hailey Hailey Disease and Darier Disease. An incisional biopsy was undertaken from the right hard palate. Histopathology results demonstrated suprabasal clefting with some evidence of acantholysis. Scattered corps ronds were seen. The superficial epithelium showed hyperkeratosis and parakeratosis. The underlying stroma showed a sparse inflammatory infiltrate, consisting predominantly of lymphocytes. These features were diagnostic of Oral Darier Disease. The patient was subsequently referred to a dermatologist to exclude cutaneous manifestations. Hyperkeratotic plaques were found on his trunk and the patient was treated with 30 mg acitretin. Darier Disease, also known as keratosis follicularis, is a rare autosomal dominant genodermatosis. It is caused by the mutation of ATP2A2 gene, a gene that encodes a calcium pump in the endoplasmic reticulum. The condition has a high penetrance but variable expressivity. As such, every person that inherits this genotype will have varying manifestations in severity and features. Subsequently, recalling a family history of this condition can become difficult and it is important not to exclude Darier Disease based solely on a negative family history of the disease. Clinically, the condition can affect the skin, nails and mucous membranes. Skin manifestations are characterised by hyperkeratotic papules and plaques, often in seborrheic areas such as the forehead, central chest, back and scalp margins. The plaques can appear papillomatous or verrucous and can manifest as painful fissures. Nail findings include red and white lines oriented longitudinally over the nail. In 50% of patients with Darier disease, the oral mucosa is involved. Commonly, asymptomatic multiple hyperkeratotic papules are noted in a cobblestone pattern in the oral cavity. Occasionally, gingival hyperplasia can be seen. Clinical and histopathologic correlation is required to diagnose Darier Disease. Management includes avoiding exacerbating triggers such as heat, occlusive clothing and friction. Use of topical and oral retinoids, corticosteroids and antibiotic agents are used to treat symptomatic cutaneous lesions. Asymptomatic oral Darier Disease does not warrant any specific treatment. Individuals with Darier Disease are susceptible to bacterial and viral infections including human papillomavirus and herpes simplex virus. Genetic counselling should be provided to the patient given the pattern of autosomal dominant inheritance. Contact lalima@pomds.com.au for references.