Good's syndrome associated with multiple basal cell carcinomas: a case report

Clinical record

A 61‐year‐old man of European ancestry (Fitzpatrick skin type II) presented with five large fungating lesions (Box 1). These tumours had been progressively growing over a 12‐month period. The presentation of this patient was delayed as he had initially misattributed the lesions to ingrown hairs. He had no personal or family history of melanoma or non‐melanoma skin cancers. He had no personal medical history of autoimmune conditions, recurrent infections, or immunosuppression.

The five tumours ranged from 1cm to 10cm in diameter. He had no cervical, axillary, or inguinal lymphadenopathy. Punch biopsies of all five lesions confirmed basal cell carcinoma (BCC; Box 2). He subsequently had a chest computed tomography scan the following week to determine the extent of invasion of a large overlying BCC, which incidentally revealed an 8cm thymoma that was resected five months later.

He had several full skin checks over the course of the next ten months, which revealed a total of 13 additional BCCs and a squamous cell carcinoma (SCC) in situ (Box 2). He was started on nicotinamide 500mg twice daily. Genetic testing for Gorlin syndrome was not completed as he did not fulfill the major or minor criteria. Antinuclear antibodies were present at a titre of 1:80. Immunophenotyping revealed very low B cells and inversion of CD4+/CD8+ T cell compartments (Box 3). Functional evaluation of his humoral immunity with before and after antibody titres to the 23‐valent pneumococcal polysaccharide vaccine (Pneumovax; Merck Sharpe and Dohme) showed an inadequate response. Considering his medical history of a thymoma, he was diagnosed with Good's syndrome. He was subsequently commenced on monthly intravenous 35g of 10% immunoglobulin and full skin checks every six months.

Discussion

Good's syndrome (thymoma with immunodeficiency) is a rare condition characterised by thymoma associated with deficiency in humoral and cellular immunity, and was first reported by Robert Good in 1954.1 It most commonly affects adults aged in their 40s or 50s.2 The clinical manifestations are highly heterogenous, ranging from sinopulmonary infections, to chronic diarrhoea and haematological complications.2 Autoimmune conditions have been reported, most commonly with pure red blood cell aplasia, myasthenia gravis, and oral lichen planus. Management involves regular intravenous immunoglobin and treatment of associated infections and autoimmune disorders. Thymectomy can be considered to prevent local invasion and metastasis, but it does not improve immunodeficiency.3 Despite these therapeutic options, the prognosis of Good's syndrome remains poor, with a ten‐year overall survival rate of 33%.2

To our knowledge, this is the first case of Good's syndrome that has been associated with the development of multiple large BCCs. Although there has been mention of two previous cases of BCC in Good's syndrome, these were not noted to be aggressive or multiple as in our patient.3 Epidemiological data suggest a strong link between non‐melanoma skin cancers and the immune system.4 Immunocompromise is widely recognised as a risk factor for the development of non‐melanoma skin cancers, such as in acquired immunodeficiency syndrome, organ transplant recipients, and patients with chronic lymphocytic leukaemia.4 Moreover, non‐melanoma skin cancers are more likely to be of the more aggressive subtypes in the immunocompromised population.4 The SCC to BCC ratio (4:1) is often reversed in this population compared with the general population (1:4).5 Our case reports an SCC to BCC ratio of 1:18, which is an interesting finding that suggests a possible immunopathological interaction between Good's syndrome and BCCs.

Box 1 – Large fungating lesions in a 61‐year‐old man

---

(A) Large exophytic nodule on central chest with overlying telangiectatic vessels and central ulceration measuring 100mm by 100mm. (B) Moist red nodule with rolled edges located on middle upper back measuring 55mm by 65mm. (C) Smaller erythematous nodule with rolled edges and central ulceration located on left medial forearm measuring 55mm by 25mm. (D) Large scaly plaque with irregular border located on right posterior shoulder measuring 45mm by 23mm.