Reticular pigmented anomaly of the flexures
Other namesKitamura reticulate acropigmentation[1]
SpecialtyDermatology

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]

Dark dot disease is associated with KRT5.[4]

See also

References

  1. ^ "Dowling-Degos disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 23 April 2019.
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  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. ^ 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.

External links


Classification
Cytoskeletal defects
Categories