Dowling Degos Disease

from Wikipedia, the free encyclopedia
Classification according to ICD-10
L81.8 Other specified disorders of skin pigmentation
ICD-10 online (WHO version 2019)

The Dowling-Degos disease is a rare congenital to the genodermatoses associated skin disease with the characteristics of a reticular pigmentation in the skin bends, follicular hyperkeratosis and acne -like scars

Synonyms are: reticular pigment dermatosis ; Latin Dowling-Degos disease ; English Dowling-Degos disease (DDD)

The name refers to the first authors of the first description from 1938 by the British dermatologist Geoffrey Barrow Dowling (1891–1976) and independently of that in 1954 by the French dermatologist Robert Degos (1904–1987)

The name “Dowling Degos Disease” was coined in 1978 by Edward Wilson Jones and Katherine Grice .

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

Depending on the underlying genetic change, the following forms can be distinguished:

  • Dowling-Degos Disease 1 (“classic” pigmentation disorder of the joint flexors ), mutations in the KRT5 gene at gene location 12q13.13, which codes for keratin 5.
  • Dowling-Degos Disease 2, mutations in the POFUT1 gene at locus 20q11.21
  • Dowling-Degos Disease 3, mutations at locus 17q21.3-q22
  • Dowling-Degos Disease 4, mutations in the POGLUT1 gene at locus 3q13.33

Clinical manifestations

Clinical criteria are:

  • Onset in early adulthood
  • Speckled, reticulated, partly confluent brown-black or gray-blue spots, flat raised papules in the skin of the flexion zones of the groin region , armpits , genitals , in the breast folds and on the neck (large skin folds )
  • inconsistent follicular perioral (around the mouth opening) and on the nose
  • Comedo-like dark follicular hyperkeratoses in the neck and the large skin folds

The following combinations with further changes can be viewed as special forms:

Further manifestations and combinations are described.

therapy

Treatment with phototherapy , in particular with flash lamp therapy ( pulsed light ), seems promising.

Individual evidence

  1. ^ A b Dowling-Degos disease. In: Orphanet (Rare Disease Database).
  2. ↑ a b c d Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  3. ^ GB Dowling, W. Freudenthal: Acanthosis Nigricans. In: Proceedings of the Royal Society of Medicine. Vol. 31, No. 9, July 1938, pp. 1147-1150, PMID 19991630 , PMC 2077003 (free full text).
  4. ↑ Who named it
  5. ↑ R. Degos, B. OSSIPOWSKI: dermatosis pigmentaire réticulée the plis. In: Annales de Dermatologie et de Syphiligraphie . Vol. 81, No. 2, 1954 Mar-Apr, pp. 147-151, PMID 13171638 .
  6. ^ EW Jones, K. Grice: Reticulate pigmented anomaly of the flexures. Dowing Degos disease, a new genodermatosis. In: Archives of Dermatology . Vol. 114, No. 8, August 1978, pp. 1150-1157, PMID 677911 .
  7. ↑ DDD1.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ DDD2.  In: Online Mendelian Inheritance in Man . (English)
  9. ↑ DDD3.  In: Online Mendelian Inheritance in Man . (English)
  10. ↑ DDD4.  In: Online Mendelian Inheritance in Man . (English)
  11. ↑ D. Kleeman, RM Trüeb, P. Schmid-Grendelmeier: Reticular pigment dermatosis of the flexion Dowling Degos of the intertriginous type in association with acne inversa In: Der dermatologist ; Journal of Dermatology, Venereology, and Allied Fields. Vol. 52, No. 7, July 2001, pp. 642-645, PMID 11475647 .
  12. ^ P. Milde, G. Goerz, G. Plewig: Dowling-Degos disease with exclusively genital manifestation. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Vol. 43, No. 6, June 1992, pp. 369-372, PMID 1628971 .
  13. ↑ A. Gupta, SC Huilgol: Successful treatment of Dowling-Degos disease using intense pulsed light. In: Australasian Journal of Dermatology . Volume 56, No. 3, August 2015, pp. E63-e65, doi: 10.1111 / ajd.12232 , PMID 25495801 .