Pseudodidimosis aplástico-sebácea: Reporte de un caso pediátrico
Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: Revista Pediátrica Especializada
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4414641120
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