JCDSA  Vol.2 No.3 , September 2012
A Unique Case? Darier’s Disease Presented as Porcupine-Like Appearance and the Observation on Acitretin Treatment
Abstract: Dyskeratosis follicularis (Darier’s disease, DD) is rare autosomal dominant disease characterized by hyperkeratotic papules that coalesce into plaques and occur primarily in seborrheic or intertriginous areas. Associated findings include nail abnormalities. A 3-year-old boy presented with porcupine-like appearance for 2 years. The lesion from the back was taken for light microscopy and electron microscopy. He was treated with acitretin (0.31 mg/d to 0.66 mg/d) for 8 years. Light microscopy and electron microscopy showed that the typical features of DD. The patient show good respond to the treatment. During 8 years treatment, the patient had dry mouth and pruritus. The skeletal abnormalities didn’t happen in the patient. The serum lipid profile, liver function and renal function within normal lever after treatment. Our findings showed that porcupine-like appearance is a unique pattern of DD. Acitretin may be a useful therapeutic agent in children with DD and less likely to cause skeletal problems.
Cite this paper: X. Zhang, C. Li, X. Li, Y. He, X. Xu and Q. Luo, "A Unique Case? Darier’s Disease Presented as Porcupine-Like Appearance and the Observation on Acitretin Treatment," Journal of Cosmetics, Dermatological Sciences and Applications, Vol. 2 No. 3, 2012, pp. 136-140. doi: 10.4236/jcdsa.2012.23027.

[1]   F. Loche, M. Carrière, H. P. Schwarze, B. Thédenat and J. Bazex, “Darier White Disease and Dermatofibrosarcoma Protuberans,” Dermatology, Vol. 199, No. 3, 1999, p. 279. doi:10.1159/000018268

[2]   S. Tavadia, E. Mortimer and C. S. Munro, “Genetic Epidemiology of Darier’s Disease: A Population Study in the West of Scotland,” British Journal of Dermatology, Vol. 146, No. 1, 2002, pp. 107-109. doi:10.1046/j.1365-2133.2002.04559.x

[3]   H. O. Curth, F. H. J. Allen, U. W. Schnyder and I. Anton-Lamprecht, “Follow-Up of a Family Group Suffering from Ichthyosis Hystrix Type Curth-Macklin,” Humangenetik, Vol. 17, No. 1, 1972, pp. 37-48. doi:10.1007/BF01789598

[4]   L. Kanerva, J. Karvonen, A. Oikarinen, J. Lauharanta, A. Ruokonen and K. M. Niemi, “Ichthyosis Hystrix (Curth-Macklin). Light and Electron Microscopic Studies Performed before and after Etretinate Treatment,” Archives of Dermatology, Vol. 120, No. 9, 1984, pp. 1218-1223. doi:10.1001/archderm.1984.01650450100030

[5]   K. M. Niemi, I. Virtanen, L. Kanerva and M. Muttilainen, “Altered Keratin Expression in Ichthyosis Hystrix Curth-Macklin. A Light and Electron Microscopic Study,” Archives of Dermatological Research, Vol. 282, No. 4, 1990, pp. 227-233. doi:10.1007/BF00371641

[6]   A. L. Ingrun, “Ultrastructural Identification of Basic Abnormalities as Clues to Genetic Disorders of the Epidermis,” Journal of Investigative Dermatology, Vol. 103, No. 5, 1994, pp. 6-12. doi:10.1111/1523-1747.ep12398887

[7]   A. B. Ackerman and G. Goldman, “Combined Epidermolytic Hyperkeratosis and Focal Acantholytic Dyskeratosis,” Archives of Dermatology, Vol. 109, No. 3, 1974, pp. 385-386. doi:10.1001/archderm.1974.01630030043010

[8]   S. Bruge, “Management of Darier’s Disease,” Clinical and Experimental Dermatology, Vol. 24, No. 2, 1999, pp. 53-56. doi:10.1046/j.1365-2230.1999.00416.x