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Disease Profile

Cheilitis glandularis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

K13.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Skin Diseases

Summary

Cheilitis glandularis is a rare inflammatory disorder of the lip.[1] It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation.[2] Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by the environment, leading to erosion, ulceration, crusting, and, occasionally, infection.[1] Cheilitis glandularis is more common in adult males, although cases have been described in women and children. In Caucasians, it is associated with a relatively high incidence of squamous cell carcinoma of the lip. Although there may be a genetic susceptibility, no definitive cause has been established. Treatment may include surgical excision by vermilionectomy (sometimes called a lip shave), but treatment varies for each individual.[1][2]

Symptoms

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal salivary gland morphology
Abnormality of the salivary glands
0010286
Abnormality of immune system physiology
0010978
Squamous cell carcinoma
0002860
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip

[ more ]

0000179
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Carcinoma
0030731
Cheilitis
Inflammation of the lips
0100825
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip

[ more ]

0000232
Vascular dilatation
Wider than typical opening or gap
0002617

Treatment

The approach to treatment for cheilitis glandularis is typically based on information obtained from histopathologic analysis (microscopic examination of the tissue); the identification of the likely causes responsible for the condition; and attempts to alleviate or eradicate those causes. Given the relatively small number of reported cases of the condition, there is not sufficient or reliable data that exists with regard to medical approaches. Therefore, treatment generally varies accordingly for each individual.[1]

  • For cases attributable to angioedema (swelling similar to hives beneath the skin), an antihistamine may help with temporary reduction of acute, nonpurulent (lacking pus) swelling.
  • Suppurative cases (those with pus present) typically require management with appropriate antimicrobial treatment as determined by culture and sensitivity testing. Concomitant corticosteroid treatment may increase the effectiveness of antimicrobial therapy in cases with nodularity; however, the potential adverse effects of long-term corticosteroid treatment, and because it can promote local fibrosis and scarring, limit its potential use either as an adjunct to antibiotic treatment or as a single therapeutic modality.
  • Topical 5-fluorouracil is useful for treatment of dysplastic actinic cheilitis and to curtail its progression. In conjunction with clinical supervision, it can be prescribed as an alternative to vermilionectomy (sometimes called a lip shave) or as a preventative measure following vermilionectomy.[1]

In cheilitis glandularis cases in which a history of chronic sun exposure exists (especially if the individual is fair skinned or the everted lip surface is chronically eroded, ulcerated, or crusted), biopsy is strongly recommended to rule out actinic cheilitis or carcinoma.

  • Surgical excision is typically not necessary when the diagnosis is actinic cheilitis with atypia or only mild dysplasia; however, individuals require ongoing clinical vigilance at regular intervals and instruction in measures to protect the lips from further sun damage.
  • Treatment options for cases of actinic cheilitis with moderate-to-severe dysplasia include surgical stripping or vermilionectomy, cryosurgery or laser surgery, or topical chemotherapy with 5-fluorouracil. Given the potential for recurrence and the risk for development of carcinoma, sun protective measures and regular clinical monitoring should be instituted.
  • In cases in which eversion, extensive fibrosis, and induration have resulted in lip incompetence with functional and cosmetic compromise, chronic pain, and surface disruption, surgical cheiloplasty (lip reduction) may be indicated to restore normal lip architecture and function. Cheiloplasty is also a prophylactic measure for reducing the risk of actinic injury.[1]

Organizations

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

    Organizations Providing General Support

      Learn more

      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.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • 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 Cheilitis glandularis. Click on the link to view a sample search on this topic.

        Resources for Kids

          References

          1. Ellen Eisenberg. Cheilitis Glandularis. Medscape Reference. March 6, 2014; https://emedicine.medscape.com/article/1078725-overview. Accessed 9/30/2015.
          2. Lourenco S, Nico M. Cheilitis glandularis. Orphanet. January 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1221. Accessed 9/30/2015.

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