A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.

Brooke-Spiegler syndrome (BSS, familial cylindromatosis or turban tumor syndrome) is an inherited disease characterized by neoplasms of the skin appendages such as cylindroma, trichoepithelioma, and spiradenoma. The disease has been mapped to 16q12-13, and mutations in the CYLD gene have been identified in families with this disorder. Of interest, multiple familial trichoepithelioma (MFT) has been described as a distinct disorder characterized by the familial occurrence of trichoepitheliomas. MFT has been mapped to 9p21; however, to date a candidate gene has not been identified. In this report, we describe a four-generation family with BSS presenting predominantly with trichoepitheliomas (resembling MFT phenotype). We identified a novel missense mutation in the CYLD gene, designated E474G, in the affected individuals of this family. Our findings exemplify clinical heterogeneity within BSS and extend the body of evidence that mutations in CYLD are implicated in this disease. Although not conclusive, these findings suggest that BSS and MFT may represent a single entity.

Oral terbinafine-induced bullous pemphigoid.

OBJECTIVE: To report a case of drug-induced bullous pemphigoid (BP) in an otherwise healthy elderly patient after taking terbinafine for 20 days. CASE SUMMARY: A 78-year-old man presented with distal subungual onychomycosis of the toenails. Oral terbinafine 250 mg/d was started for treatment. Twenty days after the beginning of the treatment, the patient presented with widespread pruritic blistering eruption, more severe on the extremities. He had not received terbinafine before and was not receiving any other drug. The diagnosis of BP was confirmed with histopathologic examination. The patient was treated successfully with oral steroids. DISCUSSION: Drug-induced BP is a well-known complication of many drugs and represents a spectrum from an acute and self-limited condition to a chronic disease. Terbinafine is frequently used in the elderly. It is known to have less drug interactions and adverse effects compared with the other antifungal agents. Use of the Naranjo probability scale indicated a probable relationship between BP and terbinafine treatment in this patient. CONCLUSIONS: To the best of our knowledge, this is the first report in the English-language literature of BP in a patient taking terbinafine. As with any other medication, oral terbinafine has the potential for severe adverse reactions. Healthcare professionals should be aware of this possibility.