Morbus Dowling-Degos and Morbus Galli-Galli. Case Report

Česká verzia

Authors: P. Kňažeková ¹; L. Lacina ^1,2,3; M. Petráčková ¹; J. Štork ¹
Authors place of work: Dermatovenerologická klinika 1. LF UK a VFN, přednosta prof. MUDr. Jiří Štork, CSc. ¹; Anatomický ústav 1. LF UK, přednosta prof. MUDr. Karel Smetana, DrSc. ²; BIOCEV – Biotechnologické a biomedicínské centrum Akademie věd a Univerzity Karlovy ve Vestci u Prahy, vedoucí laboratoře/senior researcher: prof. MUDr. Karel Smetana, DrSc. ³
Published in the journal: Čes-slov Derm, 94, 2019, No. 6, p. 233-237
Category: Case interpretation

Summary

The authors present a case of 60-year-old woman, followed-up for melanoma removed eight years ago, with incidental findings of years-long numerous pigmented macules on the trunk and limbs. Histology suggested the diagnosis of morbus Dowling-Degos, with less common finding of horn cysts. The presence of acantholysis during the revision of biopsy led to the final diagnosis of morbus Galli-Galli, which is considered to be a subtype of genodermatosis morbus Dowling-Degos. The review provides current knowledge about this disease.

Keywords:

genodermatosis – Dowling-Degos disease – reticulate pigmentary disorders – Galli-Galli disease – clinical-pathological correlation

Zdroje

1. BARDACH, H., GEBHART, W., LUGER, T. Genodermatosis in a pair of brothers: Dowling-Degos, Grover, Darier, Hailey-Hailey or Galli-Galli disease? Hautarzt, 1982, 33(7), p. 378–383.

2. BASAVARAJ, K. H., NAVYA, M. A., RASHMI, R. Relevance of psychiatry in dermatology: Present concepts. Indian J Psychiatry, 2010, 52(3), p. 270–275.

3. BASMANAV, F. B., OPRISOREANU, A. M., PASTERNACK, S. M. et al. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet, 2014, 94(1), p. 135–143.

4. BETZ, R. C., PLANKO, L., EIGELSHOVEN, S. et al. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet, 2006, 78(3), p. 510–519.

5. BOLOGNIA, J. L., JORIZZO, J. L., SCHAFFER, J. V. Dermatology. 3rd ed., Vol. One, Philadelphia: Elsevier/Saunders, 2012, p. 1064–1074. ISBN 978--0723435716.

6. BRAUN-FALCO, M., VOLGGER, W., BORELLI, S. et al. Galli-Galli disease: An unrecognized entity or an acantholytic variant of Dowling-Degos disease? J Am Acad Dermatol, 2001, 45(5), p. 760–763.

7. DEGOS, R., OSSIPOWSKI, B. Dermatose pigmentaire réticulée des plis. Ann Dermatol Syphiligr, 1954, 81(2), p. 147–151.

8. DESAI, C. A., VIRMANI, N., SAKHIYA, J. et al. An uncommon presentation of Galli–Galli disease. Indian J Dermatol Venereol Leprol, 2016, 82(6), p. 720–723.

9. DOWLING, G. B., FREUDENTHAL, W. Acanthosis nigricans. Proc R Soc Med, 1938, 31(9), p. 1147–1150.

10. FENSKE, N. A., GROOVER, C. E., LOBER, C. W. et al. Dowling-Degos disease, hidradenitis suppurativa, and multiple keratoacanthomas. A disorder that may be caused by a single underlying defect in pilosebaceous epithelial proliferation. J Am Acad Dermatol, 1991, 24(5 pt 2), p. 888–892.

11. GUPTA, V., SAHNI, K., KHUTE, P. et al. Dowling--Degos disease and malignant melanoma: Association or mere coincidence? Indian J Dermatol Venereol Leprol, 2015, 81(6), p. 627–628.

12. HANNEKEN, S., RÜTTEN, A., PASTERNACK, S. M. et al. Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. Br J Dermatol, 2010, 163(1), p. 197–200.

13. HOHMANN, C. B., KÖCHE, B., BONAMIGO, R. R. et al. Case for diagnosis. Dowling-Degos disease. An Bras Dermatol, 2010, 85(2), p. 241–243.

14. KONO, M., SAWADA, M., NAKAZAWA, Y. et al. A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation. Acta Derm Venereol, 2019, 99(4), p. 458–459.

15. LI, M., CHENG, R., LIANG, J. et al. Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet, 2013, 92(6), p. 895–903.

16. MÜLLER, C. S. L., PFÖHLER, C., TILGEN, W. Changing a concept – controversy on the confusing spectrum of the reticulate pigmented disorders of the skin.J Cutan Pathol, 2009, 36, p. 44–48. doi: 10.1111/j.1600-0560.2008.00995.x.

17. PICKUP, T. L., MUTASIM, D. F., Dowling-Degos disease presenting as hypopigmented macules. J Am Acad Dermatol, 2011, 64(6), p. 1224–1225.

18. RALSER, D. J., BASMANAV, F. B., TAFAZZOLI, A. et al. Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J Clin Invest, 2017, 127(4), p. 1485–1490.

19. RICE, A. S., COOK, C. Dowling Degos Disease. [online, updated 2019 May 12]. In: StatPearls [internet]. Treasure Island (FL): StatPearls Publishing, 2019 [cit. 25.7.2019]. Dostupné na www: https://www.ncbi.nlm.nih.gov/books/NBK531470/

20. ŠTORK, J., DŮRA, M., PETRÁČKOVÁ, M. et al. Prurigo pigmentosa- popis případu. Čes-slov Derm, 2018, 93(3), p. 102–106.

21. UJIHARA, M., KAMAKURA, T., IKEDA, M. et al. Dowling-Degos disease associated with squamous cell carcinomas on the dappled pigmentation. Br J Dermatol, 2002, 147(3), p. 568–571.

22. WENZEL, J., TAPPE, K., GERDSEN, R. et al. Successful treatment of Dowling-Degos disease with Er:YAG laser. Dermatol Surg, 2002, 28(8), p. 748–750.

23. Yun, J. H., Kim, J. H., Choi, J. S. et al. Treatment of Dowling-Degos disease with fractional Er:YAG laser. J Cosmet Laser Ther, 2013, 15(6), p. 336–339.