National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Bazex-Dupre-Christol syndrome



Other Names:
BDCS; Bazex syndrome; BZX; BDCS; Bazex syndrome; BZX; Follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome; Follicular atrophoderma-basal cell carcinoma syndrome; Follicular atrophoderma and basal cell carcinomas; Bazex-Dupré-Christol syndrome See More
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 113

Definition
Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.

Epidemiology
So far, 143 cases have been reported, mostly from France and Belgium.

Clinical description
The disease manifests during the neonatal period or during infancy. It is characterized by hypotrichosis, hypohidrosis, milia and basal cell carcinomas of early onset. Follicular atrophoderma is frequent and most common on the dorsum of the hands and feet, the extensor surfaces of the elbows and knees, and the face. Hypotrichosis affects the scalp and sometimes the eyebrows. The milia papules and basal cell carcinomas are located predominantly on the face. Basal cell carcinomas develop in 40% of patients, usually during the 2nd or 3rd decade of life. Additional common features include basal cell hamartomas, trichoepitheliomas and, in very rare cases, atopy, keratosis pilaris, ichthyosis, arachnodactyly with joint hyperlaxity, osteochondritis, deafness and learning difficulties.

Etiology
The gene has been mapped to the long arm of the X chromosome, within the Xq24-q27.1 region. UBE2A (Xq24), encoding a protein involved in repair of UV-damaged DNA, has been proposed as a candidate gene.

Differential diagnosis
The differential diagnosis should include Gorlin syndrome, which also leads to multiple basal cell carcinomas of early onset, and X-linked dominant chondrodysplasia punctata (see these terms) in which follicular atrophoderma may also be observed. Rombo syndrome and generalized basaloid follicular hamartoma syndrome (see these terms) should also be included in the differential diagnosis.

Genetic counseling
Transmission is X-linked dominant.

Management and treatment
Management involves photoprotection and early detection of basal cell carcinomas. Surgical intervention, and sometimes cryosurgery or topical imiquimod, are indicated for basal cell carcinomas. Radiotherapy is contraindicated.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2008

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 30 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Coarse hair
Coarse hair texture
0002208
30%-79% of people have these symptoms
Basal cell carcinoma 0002671
Milia
Milk spot
0001056
Pili torti
Flattened and twisted hair
0003777
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse or absent eyelashes 0200102
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
0002209
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
0001482
Trichorrhexis nodosa 0009886
5%-29% of people have these symptoms
Abnormality of finger
Abnormalities of the fingers
0001167
Abnormality of the clavicle
Abnormal collarbone
0000889
Acne inversa 0040154
Eczema 0000964
Exostoses
Formation of new noncancerous bone on top of existing bone
0100777
Hypoplasia of the ear cartilage
Underdeveloped ear cartilage
0100720
Macrotia
Large ears
0000400
Trichoepithelioma 0025367
Percent of people who have these symptoms is not available through HPO
Abnormality of the mouth
Abnormal mouth
0000153
Atopic dermatitis 0001047
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
0000966
Infantile onset
Onset in first year of life
Onset in infancy
[ more ]
0003593
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
0001382
Keratosis pilaris 0032152
Low hanging columella 0009765
Narrow nasal ridge
Decreased width of nasal ridge
Pinched nose
Thin nasal ridge
[ more ]
0000418
Nevus
Mole
0003764
Sparse hair 0008070
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
X-linked dominant inheritance 0001423
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Bazex-Dupre-Christol syndrome. Click on the link to view a sample search on this topic.

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