Pseudodidymosis aplasticosebacea: A pediatric case report
DOI:
https://doi.org/10.58597/rpe.v4i3.118Keywords:
Nevus Sebaceous of Jadassohn, Aplasia Cutis Congenita, Pseudodidymosis Aplasticosebacea, Schimmelpenning-Feuerstein-Mims Syndrome, SCALP syndromeAbstract
Pseudodidymosis aplasticosebacea (PDAS) refers to the coexistence of two different congenital skin disorders: aplasia cutis congenita (ACC) and a sebaceous nevus (SN). This rare association can be interpreted as an instance of pseudodidymosis, defined as the occurrence of two distinct cutaneous lesions in close proximity, resulting from a mutation in a pluripotent progenitor cell. PDAS can occur in isolation or as part of certain syndromes, such as Schimmelpenning syndrome or SCALP syndrome (an acronym for SN, central nervous system malformations, ACC, limbal dermoid, and pigmented nevi or giant congenital melanocytic nevi). A long-term follow-up of these patients is required, due to the associated comorbidities they may present, especially neurological and ophthalmological. We report the case of a pediatric patient with PDAS, accompanied by neurological and ophthalmological abnormalities. The purpose of this report is to describe a rare entity that is scarcely documented in the literature.
Downloads
References
Danarti R., Happle R., Rifko A. et al. Pseudodidymosis aplasticosebacea: Binary phenomenon of congenital aplasia cutis congenita and nevus sebaceus. J Am Acad Dermatol. Case Reports 2024;48:94-7. doi: 10.1016/j.jdcr.2024.04.014
Happle R., König A. Didymosis aplasticosebacea: Coexistence of Aplasia cutis congenita and Nevus sebaceus May Be Explained as a Twin Spot Phenomenon. Dermatology 2001;202:246–248. doi: 10.1159/000051645
Happle R. The group of epidermal nevus syndromes Part II. Less well defined phenotypes. J Am Acad Dermatol 2010;63:25-30. doi: 10.1016/j.jaad.2010.01.016
Happle R. The Categories of Cutaneous Mosaicism: A Proposed Classification. Am J Med Genet 2015. Part A 170A:452–459. doi: 10.1002/ajmg.a.37439
Demerdjieva Z, Kavaklieva S, Tsankov N. Epidermal Nevus Syndrome and Didymosis Aplasticosebacea. Pediatric Dermatology. 2007;24(5):514–516. doi: 10.1111/j.1525-1470.2007.00507.x
Higgins C, Price A, Craig S, Aplasia cutis congénita. BMJ Case Rep 2022;15:e251533. doi: 10.1136/bcr-2022-251533
Cabrera NH, Della Giovanna PS, García S, Sánchez GF, Mordoh A. Nevos: Nevos, tumores neviformes y síndromes névicos. Buenos Aires: Ediciones Journal; 2023. ISBN: 978-9878452418
Garcias-Ladaria J, Cuadrado Rosón M, Pascual-López M. Nevus epidérmicos y síndromes relacionados. Parte 2: Nevus derivados de estructuras anexiales. Actas Dermosifiliogr. 2018;109(8):687-698. https://doi.org/10.1016/j.ad.2018.05.004
Martínez-Guisasola J, Guerrero Ibañez M, Gonzalo I. Aplasia cutis congénita. Diagnóstico antenatal. Prog Obstet Ginecol. 2010;53(11):485–489. https://doi.org/10.1016/j.pog.2010.05.004
Brackenrich J, Brown A. Aplasia cutis congenita [Internet]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2025 Jan– [cited 2025 Jun 29]. Available from: https://pubmed.ncbi.nlm.nih.gov/30571024
Hsieh CW, Wu YH, Lin SP, Peng CC, Ho CS. Sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus syndrome. Pediatr Dermatol. 2012;29(3):365-7. doi: 10.1111/j.1525-1470.2011.01639.x.
El Ezzi O, de Buys Roessingh AS, Bigorre M, Captier G. Syndromic sebaceous nevus: current findings. Int J Dermatol. 2018;57(5):599–604. doi: 10.1111/ijd.13942
Neto MPdS, Assis BR, Andrade GR. Sebaceous nevus of Jadassohn: review and clinical surgical approach. An Bras Dermatol. 2022;97(5):628 636. doi: 10.1016/j.abd.2021.11.001
Espósito ACC, Merlotto MR, Malzoni ML, Haddad GR, Stolf HO, Romero FR, Miot HA. SCALP Syndrome associated with central nervous system melanoma. Int J Dermatol. 2019;58(5):614-615. doi: 10.1111/ijd.14163.
Lam J, Dohil MA, Eichenfield LF, Cunningham BB. SCALP syndrome: sebaceous nevus syndrome, CNS malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus) with neurocutaneous melanosis: a distinct syndromic entity. J Am Acad Dermatol. 2008;58(5):884-8. doi: 10.1016/j.jaad.2007.09.029.
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Melisa Belén Carosio, Lidia Norma Barabini, María Natalia Castro, Mónica Liliana Yarza, Daniel Navacchia, Jorge Alejandro Laffargue
This work is licensed under a Creative Commons Attribution 4.0 International License.
