FaCD Online Syndrome Fact Sheet

Last updated: 12 May 2009

Name: Bazex-Dupré-Christol syndrome

Synonym: Bazex syndrome

Mode of Inheritance: XL

Genes

BZX#, mapped to Xq24-q27

Tumor features

skin cancer, basal cell
trichoepithelioma

Non-tumor features

atrophoderma, follicular (ice pick marks)
facial hyperpigmentation
hair shaft dystrophy
hypotrichosis
milia

Comment

This syndrome is characterized by multiple basal cell cancers developing mainly on the face, from the second decade. The skin shows follicular atrophoderma (resembling ice pick marks), especially on the face, dorsae of hands and feet, and elbows. Sweating is decreased and hypotrichosis is another characteristic. The term follicular atrophoderma appears inappropriate because the skin histology does not show atrophy.[1-7,10]. Trichoepitheliomas, including those, in the genital region, are part of the syndrome[10,12] and may be an early sign[10]. The disorder has been mapped to Xq[8]. A sporadic case of Bazex-Dupré-Christol-like syndrome has been reported[11].

Confusingly, the name Bazex syndrome is also used for the sporadic disorder acrokeratosis paraneoplastica, which mainly occurs in males and is characterized by psoriasiform skin lesions of predominantly ears, fingers, nose and toes, associated with squamous cell cancer of the upper aerodigestive tract[9].

References

[1] Kidd A, Carson L, Gregory DW, De Silva D, Holmes J, Dean JCS, Haites N. A Scottish family with Bazex-Dupre-Christol syndrome: Follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma. J Med Genet 1996; 33:493-497.
[2] Bazex A, Dupre A, Christol B. Atrophodermic folliculaire, proliferations baso-cellulaires et hypotrichose. Ann Derm Syph 93, 241-254. 1966.
[3] Goeteyn M, Geerts ML, Kint A, De Weert J. The Bazex-Dupre-Christol syndrome. Arch Dermatol 1994; 130(3):337-342.
[4] Herges A, Stieler W, Stadler R. [Bazex-Dupre-Christol syndrome. Follicular atrophoderma, multiple basal cell carcinomas and hypotrichosis]. Hautarzt 1993; 44(6):385-391.
[5] Moreau Cabarrot A, Bonafe JL, Hachich N, Jalby BC, Aubert G, Rolland M, Bazex J. [Follicular atrophoderma, basal cell proliferation and hypotrichosis (Bazex-Dupre-Christol syndrome). A study in 2 families]. Ann Dermatol Venereol 1994; 121(4):297-301.
[6] Colomb D, Ducros B, Boussuge N. [Bazex, Dupre and Christol syndrome. Apropos of a case with prolymphocytic leukemia]. Ann Dermatol Venereol 1989; 116(5):381-387.
[7] Mehta VR, Potdar R. Bazex syndrome. Follicular atrophoderma and basal cell epitheliomas. Int J Dermatol 1985; 24(7):444-446.
[8] Vabres P, Lacombe D, Rabinowitz LG, Aubert G, Anderson CE, Taieb A, Bonafe JL, Hors-Cayla MC. The gene for Bazex-Dupre-Christol syndrome maps to chromosome Xq. J Invest Dermatol 1995; 105:87-91.
[9] Bolognia JL, Brewer YP, Cooper DL. Bazex syndrome (acrokeratosis paraneoplastica). An analytic review. Medicine Baltimore 1991; 70(4):269-280.
[10] Castori M, Castiglia D, Passarelli F, Paradisi M. Bazex-Dupré-Christol syndrome: An ectodermal dysplasia with skin appendage neoplasms.Eur J Med Genet. 2008 Dec 25. [Epubahead of print]
[11] Glaessl A, Hohenlautner U, Landthaler M, Vogt T. Sporadic Bazex-Dupré-Christol-like syndrome: early onset basal cell carcinoma, hypohidrosis, hypotrichosis, and prominent milia.Dermatol Surg. 2000 Feb;26(2):152-4.
[12] Yung A, Newton-Bishop JA. A case of Bazex-Dupré-Christol syndrome associated with multiple genital trichoepitheliomas.Br J Dermatol. 2005 Sep;153(3):682-4.