Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review

Abstract

Gomez-López-Hernández syndrome (GLHS) is characterized by rhombencephalosynapsis (RES), alopecia, trigeminal anesthesia and a distinctive phenotype, including brachyturricephaly. It has been suggested that GLHS should be considered as part of the spectrum of RES-associated conditions that include alopecia, trigeminal anesthesia, and craniofacial anomalies, rather than a distinct entity. To the best of our knowledge, 57 patients with GLHS have been described. Despite its first description in 1979, the etiology of this syndrome remains unknown. Here, we describe, to our knowledge, the first case of a patient with GLHS who was molecularly evaluated and had been prenatally exposed to misoprostol. We also reviewed the clinical and morphological features of the patients described to date to better delineate the phenotype and focus on any evidence for adverse pregnancy outcomes or exposure, including teratogens.

Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome

“…Other malformations were found in approximately 41.6% of the patients, and included kidney ectopia (1/12), vertebral malformations/fusion or ribs fusion (3/12), esophageal malformation (2/12) and Mondini anomaly (1/12). As previously reported, one of our cases was exposed prenatally to misoprostol (Perrone et al, 2020). Moreover, another patient was conceived by IVF pregnancy, and three patients were born at home without any medical assistance.…”

“…Considering that this is a rare disease, our patients came from a convenience sample. Details about two patients included in the sample in this study have previously been published as case reports (de Mattos et al, 2014; Perrone et al, 2020).…”

“…Indeed, some authors have proposed that GLHS belongs to a spectrum of RES‐associated conditions, rather than being a distinct entity (Tully et al, 2012). In a recent review of 57 patients diagnosed with GLHS, all patients had partial non‐scarring alopecia and one patient did not present with RES, suggesting that GLHS should be considered as a spectrum of malformations associated to congenital partial non‐scarring alopecia (Perrone et al, 2020).…”

Prenatal Diagnosis of Gómez-López-Hernández Syndrome

“…A recent report identified a 1.05 Mb copy duplication at 15q21.3 in one case which was classified as of unknown clinical significance [3]. A mutation in the ACP2 gene has caused a similar phenotype in mice and has been proposed as a possible candidate in the past but no such pathogenic or likely pathogenic variant has been found in humans [12, 13]. One child with GLHS was born to consanguineous parents, raising the possibility of a yet undiscovered recessive mutation [14].…”

Gomez-Lopez-Hernandez Syndrome. A case report from the state of Amazonas and literature review

“…Perrone et al (2021) 8 propôs em seu artigo mais recente que um diagnóstico de SGLH fosse considerado em pacientes com pelo menos dois dos seguintes critérios: alopecia focal não cicatrizante, rombencefalossinapse, anomalias craniofaciais (braquiturricefalia, braquicefalia ou retrusão da face média), anestesia trigêmea ou anormalidades anatômicas do nervo trigeminal. Tal proposta teve início em 2020 13 , em seu artigo de revisão de literatura sobre o tema, no qual, compilou 57 pacientes, listados a partir de artigos publicados ao longo dos anos, elaborando uma tabela, os organizando através de critérios diagnósticos. A partir desta, o caso foi adaptado, seguindo os critérios nela incluídos.…”