Phacomatosis pigmentokeratotica: two cases series of a neurocutaneous rarity from Indonesia

https://doi.org/10.19106/JMedSci005104201910

Retno Danarti(1*), Nafiah Chusniyati(2), Yuli Sulistiyowati(3)

(1) danarti@ugm.ac.id, Department of Dermatology and Venereology Faculty of Medicine UGM
(2) Department of Dermatology and Venereology, Faculty of Medicine and Health Sciences Universitas Muhammadiyah Yogyakarta, Jalan Brawijaya Kasihan Bantul, Yogyakarta 55183/ PKU Muhammadiyah Hospital - Jalan KHA Dahlan 20 Yogyakarta - Indonesia
(3) Polyclinic Dermatology and Venereology Dr Tjitrowardojo Hospital Jalan Jendral Sudirman 60 Purworejo - Indonesia
(*) Corresponding Author

Abstract


Phacomatosis pigmentokeratotica (PPK) is a distinct epidermal naevus syndrome. The syndrome is characterized by the coexistence of an organoid naevus with sebaceous differentiation arranged along Blaschko's lines, a papular naevus spilus arranged in a checkerboard pattern, in association with other extracutaneous anomalies. We report on two cases of PPK. The first case was an 11-year-old girl with sebaceous naevus on the right side of the body following the lines of Blaschko present since birth, whereas a papular naevus spilus involving the dorsal area of the neck was noted at 8 years of age. The second case was a 15-year old girl presented with sebaceous naevus on her face and neck and papular naevus spilus involving left side of her chest. Electroencephalography (EEG) of both cases revealed abnormal irritative epileptiform waves, and brain mapping showed symmetrical structures and no focus. The diagnoses of our two cases were based on clinical pictures of the coexistence of sebaceous naevus arranged along Blaschko's lines, a papular naevus spilus arranged in a checkerboard pattern, and EEG anomalies. To our knowledge, these cases were first reported in Indonesia. The association with various extracutaneous manifestation is often, as well as the possibility of malignant transformation.Hence a close follow-up of PPK patients is important, which may help in early recognition of the development of extracutaneous anomalies and the possibility of malignant transformation.


Keywords


speckled lentiginous naevus; papular naevus spilus; sebaceous naevus; organoid naevus; lines of Blaschko

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References

1. Happle R, Hoffmann R, Restano L, Caputo R, Tadini G. Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. Am J Med Genet 1996;65(4):363-5.
https://doi.org/10.1002/1096-8628(20010201)98:4<363::AID-AJMG1101>3.0.CO;2-A
2. Tadini G, Restano L, Gonzales-Perez R, Gonzales-Ensenat A, Vincente-Villa MA, Cambiaghi S, et al. Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. Arch Dermatol. 1998;134(3):333-7.
https://doi.org/10.1001/archderm.134.3.333
3. Happle R. Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol. 2002;12(2):133-5.
4. Torchia D, Happle R. Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy. Eur J Dermatol 2019; 29(1):2-5
5. Groesser L, Herschberger E, Sagrera A, Shwayder T, Flux K, Ehmann L, et al. Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. J Invest Dermatol. 2013;133(8):1998-2003.
https://doi.org/10.1038/jid.2013.24
6. Goldberg LH, Collins SA, Siegel DM. The epidermal nevus syndrome: case report and review. Pediatr Dermatol. 1987;4(1):27-33.
https://doi.org/10.1111/j.1525-1470.1987.tb00749.x
7. Misago N, Narisawa Y, Nishi T, Kohda H. Association of nevus sebaceus with an unusual type of "combined nevus". J Cutan Pathol. 1994;21(1):76-81.
https://doi.org/10.1111/j.1600-0560.1994.tb00695.x
8. Langenbach N, Hohenleutner U, Landthaler M. Phacomatosis pigmentokeratotica: speckled-lentiginous nevus in association with nevus sebaceus. Dermatol. 1998;197(4):377-80.
https://doi.org/10.1159/000018035
9. Martinez-Menchon T, Mahiques Santos L, Vilata Corell JJ, Febrer Bosch I, Fortea Baixauli JM. Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. Pediatr Dermatol. 2005;22(1):44-7.
https://doi.org/10.1111/j.1525-1470.2005.22110.x
10. Bouthors J, Vantyghem MC, Manouvrier-Hanu S, Soudan B, Proust E, Happle R, et al. Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. Br J Dermatol. 2006;155(1):225-6.
https://doi.org/10.1111/j.1365-2133.2006.07313.x
11. Polat M, Yalcin B, Ustun H, Caliskan D, Alli N. Phacomatosis pigmentokeratotica without extracutaneous abnormailities. Eur J Dermatol. 2008;18(3):363-4.
12. Loh SH, Lew BL, Sim WY. A Case of Phacomatosis pigmentokeratotica associated with multiple basal cell carcinomas. Am J Dermatopathol. 2018;40(2):131-5.
https://doi.org/10.1097/DAD.0000000000001012
13. Happle R. Dohi Memorial Lecture. New aspects of cutaneous mosaicism. J Dermatol. 2002;29(11):681-92.https://doi.org/10.1111/j.1346-8138.2002.tb00204.x
14. Happle R. The group of epidermal nevus syndromes Part I. Well defined phenotypes. J Am Acad Dermatol. 2010;63(1):1-22.
https://doi.org/10.1016/j.jaad.2010.01.017
15. Tara A, Sada A, Inoue T, Misago N, Narisawa Y. A case of phacomatosis pigmentokeratotica in Japanese monozygotic twins. Acta Dermato Venereol. 2011;91(5):602-3.
https://doi.org/10.2340/00015555-1133
16. Happle R, Konig A. Familial naevus sebaceus may be explained by paradominant transmission. Br J Dermatol. 1999;141(2):377.
https://doi.org/10.1046/j.1365-2133.1999.03014.x
17. Happle R. Phacomatosis pigmentokeratotica is a "pseudodidymosis". J Investig Dermatol. 2013;133(8):1923-5.
https://doi.org/10.1038/jid.2013.74



DOI: https://doi.org/10.19106/JMedSci005104201910

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