682 Correspondence ingested therefore equates to 25–30 mg of prednisolone, a from the second decade onwards.2–4 Other reported features ) reasonable adult dose and, for this child, 1 mg kg 1. There include associated hair shaft abnormalities (pili torti and trich- are no available data concerning the likely absorption of corti- orrhexis nodosa) admixed with hypotrichosis, prominent milia costeroid from a topical preparation such as Eumovate in a affecting the face, hypohidrosis, pinched nose with hypoplastic child of this age; however, it would be a coincidence if this nasal alae and prominent columella, atopic diathesis with event were not involved in the development of GPP in this comedones, pilaris, joint hypermobility, lingua plicata case. While unlikely to be a common occurrence in everyday and hyperpigmentation of the forehead.5,6 clinical practice it does appear that ingestion of topical steroid A 3-year-old girl presented at the age of 2 years with preparations may be a potential trigger for acute GPP. increasing numbers of multiple brown asymptomatic papules over the genital area and medial aspect of the thighs (Fig. 1a). Departments of Dermatology and *Paediatrics, S.D. ORPIN She had hypotrichia since birth (Fig. 1b), and had prominent Heartlands and Solihull NHS Trust (Teaching), J. HAFIJI facial milia and follicular of the cheeks Solihull Hospital, Lode Lane, Solihull, H.M. GOODYEAR* (Fig. 1c) consistent with a diagnosis of Bazex–Dupre´–Christol West Midlands B91 2JL, U.K. A. SALIM syndrome. Multiple members of her family showed similar E-mail: [email protected] features (the patient’s grandfather was originally reported by Gould and Barker in 19783) (Fig. 2). Her mother had features References of facial milia, follicular atrophoderma of the cheeks and dorsa of the hands, hypotrichia (since birth), hypohidrosis and axil- 1 Cassandra M, Conte E, Cortez B. Childhood pustular elicited lary suppurativa. The patient’s newborn brother by the streptococcal antigen: a case report and review of the litera- was born with hypotrichia, mild erythema and ichthyosis and ture. Pediatr Dermatol 2003; 20:506–10. has subsequently developed multiple facial milia, suggesting 2 Zelickson B, Muller S. Generalised pustular psoriasis in childhood. that he also has Bazex–Dupre´–Christol syndrome. A biopsy J Am Acad Dermatol 1991; 24:186–94. 3 Beylot C, Puissant A, Bioulac P et al. Particular clinical features of from the labial area in our patient revealed multiple dermal psoriasis in infants and children. Acta Derm Venereol (Stockh) 1979; 59 nodules consisting of well-defined arrangements of rounded (Suppl. 87):95–7. nests of basaloid cells in a loose lobular (or ‘organoid’) pat- 4 Ryan T, Baker H. The prognosis of generalized pustular psoriasis. tern (Fig. 1d). A loose myxoid stroma without retraction arte- Br J Dermatol 1971; 85:407–11. fact was present surrounding the interconnecting strands of 5 Ryan T, Baker H. Systemic corticosteroids and folic acid antagonists basaloid cells (Fig. 1e). Well-formed papillary mesenchymal in the treatment of generalized pustular psoriasis. Evaluation and bodies, mitotic figures and necrosis were not seen. A diagnosis prognosis based on the study of 104 cases. Br J Dermatol 1969; 81:134–45. of multiple benign trichoepitheliomas occurring in Bazex– 6 Mengesha Y, Bennett M. Pustular skin disorders: diagnosis and treat- Dupre´–Christol syndrome was made. ment. Am J Clin Dermatol 2002; 3:389–400. Bazex–Dupre´–Christol syndrome is thought to be transmit- 7 Burden A. Management of psoriasis in childhood. Clin Exp Dermatol ted by an X-linked dominant pattern of inheritance.7 The 1999; 24:341–5. genetic defect has been reported to localize to Xq24-q27.8 8 Leman J, Burden A. Psoriasis in children: a guide to its diagnosis Neither trichoepitheliomas nor have and management. Paediatr Drugs 2001; 3:673–80. been reported in association with Bazex–Dupre´–Christol 9 Demitsu T, Kosuge A, Yamada T et al. Acute generalised exanthema- tous pustulosis induced by dexamethasone injection. Dermatology syndrome. Most of the reported clinical features of Bazex– 1996; 193:56–8. Dupre´–Christol syndrome demonstrate abnormalities in the development of follicular structures, suggesting that the Conflicts of interest: none declared. defective gene codes for a protein intimately involved in folli- cular differentiation and development. Trichoepitheliomas are benign tumours which arise from cells derived from the hair follicle.9 Lesions may occur singly as a papule or nodule (up to 2 cm in diameter) or as multiple A case of Bazex–Dupre´–Christol syndrome 2–8 mm diameter skin-coloured papules on the face of chil- associated with multiple genital dren or young adults centred around the nasolabial folds and trichoepitheliomas preauricular regions. Trichoepitheliomas rarely affect the vul- val region.10 The major histological and clinical differential DOI: 10.1111/j.1365-2133.2005.06819.x diagnosis of trichoepithelioma includes basal cell carcinoma and trichoblastoma.9,11 There is considerable controversy SIR, Bazex–Dupre´–Christol syndrome was first described by regarding the histological definition of these follicular tumours Bazex et al. in 1964.1 It is characterized by a triad of congenital and differentiation between these entities can be difficult, hypotrichosis, follicular atrophoderma (affecting the dorsa of although various features are reported to be helpful in differ- the hands and feet, the face, and extensor surfaces of the entiating trichoepitheliomas from basal cell carcinomas.11,12 elbows or knees) and the development of basocellular Furthermore, it remains unclear whether basal cell carcinomas (including basal cell naevi and basal cell carcinomas) may arise from trichoepitheliomas.9

2005 British Association of Dermatologists British Journal of Dermatology 2005 153, pp664–699 Correspondence 683

Fig 1. (a) Multiple trichoepitheliomas (multiple brown flat-topped papules) affecting the genital area and inner thighs. (b) Hypotrichia as a neonate. (c) Prominent facial milia with early follicular atrophoderma of the cheeks. (d) Scanning low power view of trichoepithelioma showing loosely organized lobules of basaloid cells (organoid pattern) with loose myxoid stroma but lacking retraction artefact around the lobules (haematoxylin and eosin; original magnification · 2). (e) High power view of basaloid cells showing unusual myxoid stroma without retraction artefact. Mesenchymal bodies, mitotic figures and necrosis are absent (haematoxylin and eosin; original magnification · 20).

suggests that the genetic mutation responsible for Bazex–Dup- re´–Christol syndrome may also have pleiotropic effects respon- sible for the multiple trichoepitheliomas seen in our case. It is unclear whether our patient will go on to develop basal cell carcinomas (or cylindromas and spiradenomas). We report what we believe to be the first case of Bazex– Dupre´–Christol syndrome associated with trichoepitheliomas and hidradenitis suppurativa. Bazex–Dupre´–Christol syndrome is associated with the development of basal cell carcinomas; however, it is unknown whether they arise from previously undiagnosed trichoepitheliomas.

Department of Dermatology, A. YUNG Leeds General Infirmary, J.A. NEWTON-BISHOP* Fig 2. Updated pedigree of family reported by Gould and Barker.3 Leeds LS1 3EX, U.K. BCC, basal cell carcinoma; HS, hidradenitis suppurativa; TE, multiple *Department of Dermatology, trichoepitheliomas. St James’s University Hospital, Leeds LS9 7TF, U.K. Familial multiple trichoepithelioma is inherited as a auto- E-mail: [email protected]; 13 somal dominant disorder. The association of multiple famil- [email protected] ial trichoepitheliomas with basal call carcinoma, cylindroma and occasionally eccrine spiradenoma is denoted Brooke– References Spiegler syndrome, a autosomal dominant disorder due to loss of heterozygosity at 9p21.14 In contrast, sporadic trichoepitheli- 1 Bazex A, Dupre´ A, Christol B. Ge´nodermatose complexe de type in- oma may be associated with loss of heterozygosity at 9p22.3, de´termine´ associant une hypotrichose, un e´tat atrophodermique a common site of genetic defects found in basal cell carcino- ge´ne´ralise´ et des de´ge´ne´rescences cutane´es multiples (epitheliomas- mas.15–17 Recent studies in Chinese families with multiple basocellulaires). Bull Soc Franc Derm. Syph. 1964; 71:206. 2 Goeteyn M, Geerts ML, Kint A et al. The Bazex–Dupre´–Christol syn- trichoepitheliomas (without cylindromatosis) have demonstra- drome. Arch Dermatol 1994; 130:337–42. ted genetic defects at 16q12-q13, the site of the recessive cyl- 3 Gould DJ, Barker DJ. Follicular atrophoderma with multiple basal indromatosis oncogene CYLD, the tumour suppressor gene cell carcinomas (Bazex). Br J Dermatol 1978; 99:431–5. responsible for the development of cylindromatosis. This 4 Kidd A, Carson L, Gregory DW et al. A Scottish family with Bazex– observation confirms that different genetic mutations may Dupre´–Christol syndrome: follicular atrophoderma, congenital manifest with identical phenotypic expression.18–20 This hypotrichosis, and basal cell carcinoma. J Med Genet 1996; 33:493–7.

2005 British Association of Dermatologists British Journal of Dermatology 2005 153, pp664–699 684 Correspondence

5 Glaessl A, Hohenlautner U, Landthaler M et al. Sporadic Bazex–Dup- of the is clean and granulating, and borders are not re´–Christol–like syndrome: early onset basal cell carcinoma, hypo- undermined. The most frequent site is the back, followed by hidrosis, hypotrichosis, and prominent milia. Dermatol Surg 2000; the hip, arm and abdomen. Culture for bacteria, fungi and 26:152–4. mycobacteria is negative. Healing takes between 3 months and 6 Herges A, Stieler W, Stadler R. [Bazex–Dupre´–Christol syndrome. Follicular atrophoderma, multiple basal cell carcinomas and hypo- some years, and spontaneous healing is infrequent. trichosis]. Hautarzt 1993; 44:385–91. Histologically, SGP is characterized by a three-layered gran- 7 Viksnins P, Berlin A. Follicular atrophoderma and basal cell carci- uloma: inner neutrophils and necrosis; a surrounding layer of nomas: the Bazex syndrome. Arch Dermatol 1977; 113:948–51. histiocytes and giant cells; an outer layer of plasma cells and 8 Vabres P, Lacombe D, Rabinowitz LG et al. The gene for Bazex– eosinophils.2 In contrast to PG, SGP is less likely to be associ- Dupre´–Christol syndrome maps to chromosome Xq. J Invest Dermatol ated with systemic diseases; however, it has been reported in 1995; 105:87–91. association with rheumatoid arthritis, chronic lymphocytic 9 Wallace ML, Smoller BR. Trichoepithelioma with an adjacent basal 1 3 cell carcinoma, transformation or collision? J Am Acad Dermatol 1997; leukaemia, IgA paraproteinaemia, cystic and other 4 37:343–5. diseases. The differential diagnosis includes deep chronic 3 10 Cho D, Woodrufft JD. Trichoepithelioma of the vulva. A report of infections and classic PG. Pyoderma-like lesions can also be two cases. J Reprod Med 1988; 33: 317–9. observed in deep fungal infections, mycobacterial disease, 11 LeBoit PE. Trichoblastoma, basal cell carcinoma, and follicular dif- foreign body and other conditions.5 Treatment ferentiation: what should we trust? Am J Dermatopathol 2003; response in SGP is variable and unpredictable. Therapeutic 25:260–3. options include oral tetracyclines, sulphapyridine, dapsone, 12 Rapini RP. Follicular differentiation in basal cell carcinoma and the 3 trend to designate benign or questionable lesions as malignant. clofazimine, immunosuppressants and topical steroids. Sys- J Am Acad Dermatol 2002; 47:792–4. temic steroids are usually unnecessary. 13 Harada H, Hashimoto K, Ko MS. The gene for multiple familial tri- The aetiopathogenesis of SGP and PG is not clear. The choepithelioma maps to chromosome 9p21. J Invest Dermatol 1996; association of PG with systemic diseases (ulcerative colitis, 107: 41–3. Crohn disease, haemological malignancies and others) suggests 14 Fenske C, Banerjee P, Holden C et al. Brooke-Spiegler syndrome an underlying autoimmune condition. T helper–suppressor locus, assigned to 16q12-q13. J Invest Dermatol 2000; 114: 1057–8. imbalance, defective neutrophil chemotaxis, impaired phago- 15 Matt D, Xin H, Vortmeyer AO et al. Sporadic trichoepithelioma demonstrates deletions at 9q22.3. Arch Dermatol 2000; 136: 657–60. cytosis and deranged monocyte function have been postula- 6 16 Goldstein AM, Stewart C, Bale AE et al. Localization of the gene for ted in the pathogenesis of PG. An acute vascular insufficiency the nevoid basal cell carcinoma syndrome. Am J Hum Genet 1994; to the skin, as a consequence of deposition of immunocom- 54: 765–73. plexes and lymphocytotoxicity leading to infarcts, has also 17 Holberg E, Rozell BL, Toftgard R. Differential allele loss on chro- been proposed. The histological findings of vasculitis and the mosome 9q22.3 in human non-melanoma skin cancer. Br J Cancer occasional demonstration of deposits of immunoglobulin, 1996; 74: 246–50. complement and fibrin by immunofluorescence supports this 18 Zheng G, Hu L, Huang W et al. CYLD mutation causes multiple familial in three Chinese familial trichoepithelioma in three hypothesis. Even in SGP the histological findings, especially Chinese families. Hum Mutat 2004; 23: 400. the three-layered granuloma with eosinophils, are suggestive 19 Salhi A, Bornholdt D, Qeffner F et al. Multiple familial trichoepithe- of an immunological granuloma, that is a delayed type lioma caused by mutations in the cylindromatosis tumor suppres- hypersensitivity to an otherwise non-pathogenic organism.7 sor gene. Cancer Res 2004; 64: 5113–7. Until now the antigen has not been recognized, but it could 20 Zhang XJ, Liangi YH, He PP et al. Identification of the cylindroma- be either endogenous or exogenous.1 tosis tumor-suppressor gene responsible for multiple familial tri- Brodie’s abscess is a localized form of chronic osteomyelitis. choepithelioma. J Invest Dermatol 2004; 122; 658–64. It is more frequent in long bones, before epiphyseal closure. Conflicts of interest: none declared. Staphylococcus aureus is cultured in only 50% of cases. We present a patient with Brodie’s abscess, with clinicopathological fea- tures supporting the diagnosis of SGP. A 14-year-old girl presented to the orthopaedic surgeons with a painful right upper femur. X-ray, magnetic resonance Superficial granulomatous pyoderma imaging scan and bone biopsies were performed, showing associated with chronic osteomyelitis Brodie’s abscess. On the bone biopsies fragments of bone were associated with intense inflammation, consistent with osteomy- DOI: 10.1111/j.1365-2133.2005.06822.x elitis. She was started on full-dose fusidic acid, clindamycin and ciprofloxacin, with improvement of the bone infection; SIR, Superficial granulomatous pyoderma (SGP), first described however, the cutaneous lesion due to the bone biopsy failed to by Wilson-Jones and Winkelmann in 1988,1 is a vegetative heal. Cutaneous mycobacterial infection was suspected, but no form of (PG). It is characterized by acid-fast bacilli were shown on microbiology or culture, and sterile abscesses that form sinuses to the skin surface, and Ziehl–Neelsen stain was negative. Swabs were also negative. vegetative ulcers, mainly at sites of trauma. It presents with a One month later, she developed a similar lesion on the papule, nodule or plaque, which can discharge pus. The base upper left arm. When asked, she did not deny picking the

2005 British Association of Dermatologists British Journal of Dermatology 2005 153, pp664–699