Dowling–Degos_disease

Reticular pigmented anomaly of the flexures

Reticular pigmented anomaly of the flexures

Medical condition

Reticular pigmented anomaly of the flexures (also known as dark dot disease and Dowling–Degos disease) is a fibrous anomaly of the flexures or bending parts of the axillae, neck and inframammary/sternal areas.[2]: 856  It is an autosomal-dominant pigmentary disorder that may appear in adolescence or adulthood. This condition is due to mutations in structural/desmosomal proteins found within stratified squamous epithelium.[3]

Quick Facts Other names, Specialty ...

Dark dot disease is associated with KRT5.[4]

See also

References

  1. [1]
    "Dowling-Degos disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 23 April 2019.
  2. [2]
    James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. [3]
    Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  4. [4]
    Betz RC, Planko L, Eigelshoven S, et al. (March 2006). "Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease". Am. J. Hum. Genet. 78 (3): 510–9. doi:10.1086/500850. PMC 1380294. PMID 16465624.


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