A second case of recessive mosaicism in <i>ABCA12</i> causing a congenital unilateral epidermal nevus

We report a patient with a congenital unilateral epidermal nevus caused by two novel pathogenic ABCA12 variants, one inherited and one postzygotically acquired. This represents a rare example of recessive mosaicism, previously described only once. Our case corroborates and extends current knowledge of this mechanism and highlights its relevance for diagnostics and genetic counselling.

Authors

R. Salgo
Alrun Hotz (ORCID: https://orcid.org/0000-0003-2560-3951)
Madeleine Müller
Judith Fischer (ORCID: https://orcid.org/0000-0002-8580-8118)
Svenja Rademacher

Institutions

Goethe University Frankfurt (DE)
University of Freiburg (DE)
University Medical Center Freiburg (DE)
University Hospital Frankfurt (DE)
ERN GUARD-Heart (NL)

Publication Details

Journal: Clinical and Experimental Dermatology
Published: 2026-06-27
DOI: https://doi.org/10.1093/ced/llag273
Primary Topic: Genetic and rare skin diseases.
Type: article
Field-Weighted Citation Impact: 0.00

Controls

|||

ALL TIME

JAN

FEB

MAR

APR

MAY

JUN

JUL

AUG

SEP

OCT

article

A second case of recessive mosaicism in ABCA12 causing a congenital unilateral epidermal nevus

R. Salgo, Alrun Hotz, Madeleine Müller, Judith Fischer et al.

Jun 27, 2026

Clinical and Experimental Dermatology

Genetic and rare skin diseases.

article

A second case of recessive mosaicism in ABCA12 causing a congenital unilateral epidermal nevus

R. Salgo, Alrun Hotz, Madeleine Müller, Judith Fischer, Svenja Rademacher

June 27, 2026article en

Abstract

We report a patient with a congenital unilateral epidermal nevus caused by two novel pathogenic ABCA12 variants, one inherited and one postzygotically acquired. This represents a rare example of recessive mosaicism, previously described only once. Our case corroborates and extends current knowledge of this mechanism and highlights its relevance for diagnostics and genetic counselling.

Clinical and Experimental Dermatology

Goethe University Frankfurt (DE), University of Freiburg (DE), University Medical Center Freiburg (DE), University Hospital Frankfurt (DE), ERN GUARD-Heart (NL)

Openalex Percentile: Top 7%

Genetic and rare skin diseases.

DOI Source OpenAlex

AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.