Porokeratotic eccrine ostial and dermal duct nevus associated with an 11 megabase 3p deletion

Alison M R Castle; Michele L Ramien; Nordau Kanigsberg; Dina El Demellawy; Jean McGowan-Jordan; Melanie Beaulieu Bergeron; Christine M Armour

doi:10.1111/pde.14850

Porokeratotic eccrine ostial and dermal duct nevus associated with an 11 megabase 3p deletion

Pediatr Dermatol. 2022 Jan;39(1):107-111. doi: 10.1111/pde.14850. Epub 2021 Dec 20.

Authors

Alison M R Castle¹, Michele L Ramien², Nordau Kanigsberg³, Dina El Demellawy⁴, Jean McGowan-Jordan^{1

4}, Melanie Beaulieu Bergeron^{1

4}, Christine M Armour^{1

5

6}

Affiliations

¹ Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
² Division of Community Pediatrics, Department of Pediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada.
³ Division of Dermatology and Rheumatology, Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.
⁴ Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada.
⁵ Prenatal Screening Ontario (PSO), Better Outcomes Registry & Network (BORN) Ontario, Ottawa, Ontario, Canada.
⁶ Children's Hospital of Eastern Ontario (CHEO) Research Institute, Ottawa, Ontario, Canada.

PMID: 34929758
DOI: 10.1111/pde.14850

Abstract

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare eccrine hamartoma; the etiology is incompletely understood. A patient presented with congenital, widespread PEODDN. Clinical assessment, histopathologic, cytogenetic, and molecular genetic investigations on affected cells were pursued. Histopathology confirmed PEODDN, and chromosomal microarray on affected tissues identified a mosaic 3p26.3p25.3 deletion in affected tissues. This 11Mb deletion encompasses 47 OMIM genes. We propose that this and other chromosomal deletions may be implicated in some cases of PEODDN, suggesting locus heterogeneity and underscoring the importance of incorporating cytogenetic and molecular investigations into the multidisciplinary care of individuals with suspected mosaic genetic skin disorders.

Keywords: 3p26.3p25.3 deletion; PEODDN; cytogenetics; genetic diseases/mechanisms; mosaicism.

Publication types

Case Reports

MeSH terms

Eccrine Glands
Hamartoma*
Humans
Nevus*
Porokeratosis* / genetics
Skin Neoplasms*
Sweat Gland Diseases*