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Genetics of Skin Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Basal Cell Carcinoma

Table 1. Comparison of Diagnostic Criteria for Basal Cell Nevus Syndrome (BCNS) continued...

Bazex-Dupré-Christol syndrome

Bazex-Dupré-Christol syndrome, another rare genodermatosis associated with development of BCC, has more thorough documentation in the literature than Rombo syndrome. Inheritance is accomplished in an X-linked dominant fashion, with no reported male-to-male transmission.[113,114,115] Regional assignment of the locus of interest to chromosome Xq24-q27 is associated with a maximum LOD score of 5.26 with the DXS1192 locus.[116]

Characteristic physical findings include hypotrichosis, hypohidrosis, milia, follicular atrophoderma of the cheeks, and multiple BCC, which manifest in the late second decade to early third decade.[113] Documented hair changes with Bazex-Dupré-Christol syndrome include reduced density of scalp and body hair, decreased melanization,[117] a twisted/flattened appearance of the hair shaft on electron microscopy,[118] and increased hair shaft diameter on polarizing light microscopy.[115] The milia, which may be quite distinctive in childhood, have been reported to regress or diminish substantially at puberty.[115] Other reported findings in association with this syndrome include trichoepitheliomas, hidradenitis suppurativa, hypoplastic alae, and a prominent columella.[119,120]

Epidermolysis bullosa simplex, Dowling-Meara

A rare subtype of epidermolysis bullosa simplex (EBS), Dowling-Meara (EBS-DM), is primarily inherited in an autosomal dominant fashion and is associated with mutations in either keratin-5 (KRT5) or keratin-14 (KRT14).[121] EBS-DM is one of the most severe types of EBS and results in occasional mortality in early childhood.[122] One report cites an incidence of BCC of 44% by age 55 years in this population.[123] Individuals who inherit two EBS mutations may present with a more severe phenotype.[124] Other less phenotypically severe subtypes of EBS can also be caused by mutations in either KRT5 or KRT14.[121] Approximately 75% of individuals with a clinical diagnosis of EBS (regardless of subtype) have KRT5 or KRT14 mutations.[125]

Characteristics of hereditary syndromes associated with a predisposition to BCC are described in Table 2 below.

Table 2. Basal Cell Carcinoma (BCC) Syndromes

Syndrome (OMIM link)InheritanceChromosomeGeneClinical Findings
AD = autosomal dominant; AR = autosomal recessive; OMIM = Online Mendelian Inheritance in Man; XD = X-linked dominant.
Basal cell nevus syndrome, Gorlin syndromeAD9q22.3-q31[56]PTCH1[126,127]BCC (before age 20 y)
Rombo syndromeAD  Milia, atrophoderma vermiculatum, acrocyanosis, trichoepitheliomas, and BCC (age 30–40 y)
Bazex-Dupré-Christol syndrome XD > ADXq24-27[116]UnknownHypotrichosis (variable),[113]hypohidrosis, milia, follicular atrophoderma (dorsal hands), and multiple BCCs (aged teens to early 20s)[113]
Brooke-Spiegler syndromeAD16q12-q13[129,130]CYLD[131,132]Cylindroma (forehead, scalp, trunk, and pubic area),[133,134]trichoepithelioma (around nose), spiradenoma, and BCC
Multiple hereditary infundibulocystic BCCAD[135]UnknownUnknownMultiple BCC (infundibulocystic type)
Schopf-Schultz-Passarge syndromeAR > ADUnknownUnknownEctodermal dysplasia (hypotrichosis, hypodontia, and nail dystrophy [anonychia and trachyonychia]), hidrocystomas of eyelids, palmo-plantar keratosis and hyperhidrosis, and BCC[136]

WebMD Public Information from the National Cancer Institute

Last Updated: February 25, 2014
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