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A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue

tuberculosis, confirming the diagnosis of paucibacillary tuberculosis. She was commenced on triple antituberculous therapy with isoniazid, rifampicin and pyrazinamide for 2 months followed by 4 months of isoniazid and rifampicin, with an excellent response (Fig. 2). This is the first reported case of lupus vulgaris presenting with ‘turkey ear’. This is a descriptive term previously used in lupus pernio. Lupus pernio is a relatively common skin manifestation of sarcoidosis characterized by bluish-red or violaceous indurated plaques and nodules that usually affect the nose, cheeks, ears, fingers, hands and toes. Involved ears may become massive, hence the name ‘turkey ears’. A similar clinical finding may, however, be seen with other skin diseases and it is important to investigate the patient thoroughly to establish the cause and allow appropriate treatment. The differential diagnoses include lupus vulgaris. Classically small, sharply marginated soft reddish-brown papules are seen with an ‘apple-jelly’ appearance on diascopy, although this may not be the case in pigmented skin. Ulceration and scarring rarely occur. Lesions appear as a result of direct extension of underlying tuberculous foci, typically in a bone, joint or lymph node, or by haematogenous or lymphatic spread. In Europe, over 80% of lesions are on the head and neck, particularly around the nose. In the ‘myxomatous’ form, huge soft tumours occur predominantly on the ear lobes, which become grossly enlarged. Because of its rarity in the U.K., the index of suspicion may be low. Histology can be helpful but is not diagnostic. The most prominent feature is a typical granulomatous tubercle with epithelioid cells, Langerhans giant cells, and a mononuclear infiltrate. Caseation necrosis is minimal. It is typically a paucibacillary form of cutaneous tuberculosis, which often makes successful culture difficult. Concomitant diagnosis by both culture and detection of mycobacterial DNA using PCR has been reported and may be useful where small numbers of mycobacteria are present. Other differential diagnoses include tuberculoid leprosy. The nodules of leprosy are firmer and have a dry, hairless and insensitive surface. Invasion of nerves may be seen. Lymphocytoma cutis is a benign cutaneous B-cell lymphoproliferative condition presenting with nodules or plaques usually on the head, neck and ear lobes, which can be distinguished histologically. Lupoid leishmaniasis can also present difficulties both clinically and histologically, presenting with red-brown plaques and apple-jelly nodules. This is the first reported case of ‘turkey ear’ as a manifestation of cutaneous tuberculosis and this patient highlights the pitfalls in relying on a clinically descriptive term, i.e. ‘turkey ear’, for a diagnosis. However, if it is considered as a physical sign then the clinician would realise the need for thorough patient investigation.