Severe Acne in Female-to-Male Transgender Patients

and grains, hyperkeratosis, and parakeratosis.Both present clinically with hyperkeratotic papules and warty plaques but differ in their age of onset and associated abnormalities.ADEN is often congenital, while DD typically manifests in the second or third decade of life.Typically, DD has associated nail abnormalities, mucous membrane involvement, palmoplantar pits, and punctate keratoses, while ADEN does not. 2 Genetic testing is available, as is immunohistochemical staining of tissue for SERCA2 protein expression.The genetic difference between the 2 disorders remains controversial.Darier disease is caused by mutations in ATP2A2, which encodes the SERCA2 pump.Mutations of SERCA2 have been discovered in at least 2 patients with ADEN, leading some clinicians to classify ADEN as segmental DD resulting from postzygotic mosaicism.3 Others maintain that congenital or early childhood onset and linear distribution suggest ADEN and not segmental DD. 4 There is 1 reported case of ADEN where lack of ATP2A2 mutation was confirmed by DNA analysis.5 In our patient, IHC staining identified SERCA2 protein in lesional skin.However, the IHC staining does not substantiate normal function of the protein.Genetic testing was not economically feasible for this family but may be appropriate when a patient desires genetic counseling, prenatal diagnosis, or identification of at-risk family members.The Genetic Testing Registry lists several laboratories that will perform sequence analysis of the ATP2A2 gene.6 With 96% specificity, the lack of ATP2A2 gene mutation nearly excludes a diagnosis of DD.Our case supports the premise that ADEN has clinical and prognostic features distinct from DD despite their overlapping histopathologic findings.Although IHC staining of SERCA2 can be helpful, further study of genotype-phenotype correlations may allow better distinction of these 2 clinical entities.