González-Del Angel Ariadna, Ruiz-Herrera Adriana, Hernández-Martínez Nancy Leticia, Todd-Quiñones Carlos G, Durán-McKinster Carola, Herrera-Mora Patricia, Alcántara-Ortigoza Miguel Angel
Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Ciudad de México 04530, Mexico.
Servicio de Genética, Hospital Médica Campestre, León 37180, Guanajuato, Mexico.
Children (Basel). 2023 Sep 28;10(10):1614. doi: 10.3390/children10101614.
Tuberous sclerosis complex (TSC) is a genetic disorder, frequently characterized by early dermatological manifestations. The recognition and adequate description of these dermatological manifestations are of utmost importance for early diagnosis, allowing for the implementation of therapeutic and preventive measures. Fibrous cephalic plaques (FCPs) are considered a major diagnostic criterion for TSC, as FCPs are the most specific skin lesions of TSC. The localization, consistency, color, and size of FCPs vary widely, which can cause diagnostic delay, especially in patients with atypical presentations. The present report describes a female TSC patient with a confirmed heterozygous pathogenic genotype, NG_005895.1 (_v001): c.2640-1G>T, who presented with uncommon large and bilateral FCPs causing bilateral ptosis and marked with hyperostosis of the diploe that generated an asymmetry of the brain parenchyma. Differential diagnoses considered initially in this patient due to the atypical FCPs are described.
结节性硬化症（TSC）是一种遗传性疾病，常以早期皮肤表现为特征。认识并充分描述这些皮肤表现对于早期诊断至关重要，有助于实施治疗和预防措施。纤维性头部斑块（FCPs）被认为是TSC的主要诊断标准，因为FCPs是TSC最具特异性的皮肤病变。FCPs的位置、质地、颜色和大小差异很大，这可能导致诊断延迟，尤其是在表现不典型的患者中。本报告描述了一名确诊为杂合性致病基因型NG_005895.1（_v001）：c.2640-1G>T的女性TSC患者，她出现了罕见的双侧大型FCPs，导致双侧上睑下垂，并伴有板障骨肥厚，引起脑实质不对称。本文描述了该患者因非典型FCPs最初考虑的鉴别诊断。
