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Table 2. Basal Cell Carcinoma (BCC) Syndromes

Syndrome (OMIM link) Inheritance Chromosome Gene Clinical Findings 
AD = autosomal dominant; AR = autosomal recessive; OMIM = Online Mendelian Inheritance in Man; XD = X-linked dominant.
Basal cell nevus syndrome, Gorlin syndrome AD9q22.3-q31 [61]PTCH1 [134,135]BCC (before age 20 y)
3.597–6.457 [61]PTCH2 [136]
10q24.32SUFU [83]
Rombo syndrome ADMilia, atrophoderma vermiculatum, acrocyanosis, trichoepitheliomas, and BCC (age 30–40 y)
Bazex-Dupré-Christol syndrome XD > ADXq24-27 [124]UnknownHypotrichosis (variable),[121] hypohidrosis, milia, follicular atrophoderma (dorsal hands), and multiple BCCs (aged teens to early 20s)[121]
Brooke-Spiegler syndrome AD16q12-q13 [137,138]CYLD [139,140]Cylindroma (forehead, scalp, trunk, and pubic area),[141,142] trichoepithelioma (around nose), spiradenoma, and BCC
Multiple hereditary infundibulocystic BCC AD[143]UnknownUnknownMultiple BCC (infundibulocystic type)
Schopf-Schultz-Passarge syndrome AR > ADUnknownUnknownEctodermal dysplasia (hypotrichosis, hypodontia, and nail dystrophy [anonychia and trachyonychia]), hidrocystomas of eyelids, palmo-plantar keratosis and hyperhidrosis, and BCC[144]

References

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  2. Kijima C, Miyashita T, Suzuki M, et al.: Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation. Fam Cancer 11 (4): 565-70, 2012.  [PUBMED Abstract]

  3. Viksnins P, Berlin A: Follicular atrophoderma and basal cell carcinomas: the Bazex syndrome. Arch Dermatol 113 (7): 948-51, 1977.  [PUBMED Abstract]

  4. Vabres P, Lacombe D, Rabinowitz LG, et al.: The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq. J Invest Dermatol 105 (1): 87-91, 1995.  [PUBMED Abstract]

  5. Johnson RL, Rothman AL, Xie J, et al.: Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272 (5268): 1668-71, 1996.  [PUBMED Abstract]

  6. Hahn H, Wicking C, Zaphiropoulous PG, et al.: Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85 (6): 841-51, 1996.  [PUBMED Abstract]

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  8. Fenske C, Banerjee P, Holden C, et al.: Brooke-Spiegler syndrome locus assigned to 16q12-q13. J Invest Dermatol 114 (5): 1057-8, 2000.  [PUBMED Abstract]

  9. Biggs PJ, Wooster R, Ford D, et al.: Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. Nat Genet 11 (4): 441-3, 1995.  [PUBMED Abstract]

  10. Scheinfeld N, Hu G, Gill M, et al.: Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome. Clin Exp Dermatol 28 (5): 539-41, 2003.  [PUBMED Abstract]

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  12. Weyers W, Nilles M, Eckert F, et al.: Spiradenomas in Brooke-Spiegler syndrome. Am J Dermatopathol 15 (2): 156-61, 1993.  [PUBMED Abstract]

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  14. Requena L, Fariña MC, Robledo M, et al.: Multiple hereditary infundibulocystic basal cell carcinomas: a genodermatosis different from nevoid basal cell carcinoma syndrome. Arch Dermatol 135 (10): 1227-35, 1999.  [PUBMED Abstract]

  15. Nordin H, Månsson T, Svensson A: Familial occurrence of eccrine tumours in a family with ectodermal dysplasia. Acta Derm Venereol 68 (6): 523-30, 1988.  [PUBMED Abstract]