COMEDONAL DARIER’S DISEASE

  • Tiago Mestre Interno do complementar de Dermatologia e Venereologia/Resident, Dermatology and Venereology
  • Fernando Assis Pacheco Chefe de Serviço de Dermatologia e Venereologia/Consultant Chief, Dermatology and Venereology
  • António Lázaro Chefe de Serviço e Director do Serviço de Anatomia Patológica/Consultant Chief and Head of Pathology Department Serviço de Dermatologia e Venereologia, Hospital Curry Cabral – CHLC, Lisboa, Portugal
  • Jorge Cardoso Chefe de Serviço e Director do Serviço de Dermatologia e Venereologia/Consultant Chief and Head of Dermatology and Venereology Department Serviço de Dermatologia e Venereologia, Hospital Curry Cabral – CHLC, Lisboa, Portugal
Keywords: Darier disease, Sarcoplasmic reticulum calcium-transporting ATPases

Abstract

Darier disease is an autosomal dominant dermatosis caused by the mutation of the ATP2A2 gene. There are rarer clinical variants showing atypical skin lesions like the hypertrophic, vesicobollous, hypopigmented, and comedonal subtypes. We present the case of a 28-years-old healthy man with more than hundred pruritic open comedone-like hyperkeratotic dark papules of the upper and lower back. Histological examination showed dilated follicular infundibulum, containing keratotic material, suprabasal acantholysis and dyskeratotic cells compatible with comedonal Darier disease. There are less than 10 published cases of this clinical and histological subtype.

Downloads

Download data is not yet available.

References

Chung J, Kim JY, Gye J, Namkoong S, Hong SP, Park BC, et al. A case of familial comedonal Darier's disease. Ann Dermatol. 2011; 23(Suppl 3): S398-S401.

Lora V, Cota C, Grammatico P, Pedace L, Kerl H, Cerroni L. Comedonal Darier disease: Report of 2 cases. J Am Acad Dermatol. 2013; 69(6):e307-9.

Bchetnia M, Charfeddine C, Kassar S, Zribi H, Guettiti HT, Ellouze F, et al. Clinical and mutational heterogeneity of Darier disease in Tunisian families. Arch Dermatol. 2009;145:654-6.

Jones I, Jacobsen N, Green EK, Elvidge GP,Owen MJ, Craddock N. Evidence for familial cosegregation of major affective disorder and genetic markers flanking the gene for Darier's disease. Mol Psychiatry. 2002; 7(4):424-7.

Tsuruta D, Akiyama M, Ishida-Yamamoto A, Imanishi H, Mizuno N, Sowa J, et al. Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease. Br J Dermatol. 2010;162(3):687-9.

Published
2015-09-29
How to Cite
Mestre, T., Assis Pacheco, F., Lázaro, A., & Cardoso, J. (2015). COMEDONAL DARIER’S DISEASE. Journal of the Portuguese Society of Dermatology and Venereology, 73(3), 389-392. https://doi.org/10.29021/spdv.73.3.464
Section
Case Reports