Neurotrophic Keratitis in a Pediatric Patient With Goldenhar Syndrome and Trigeminal Aplasia Successfully Treated by Corneal Neurotization

Abstract

Case ReportsHMB-45 (>75%), Melan-A (>75%), zonal necrosis, increased Ki-67 index (12%), and elevated mitotic index (3/10 HPF). However, no gene mutations were identified. In the authors' current case, there were areas of strong positive staining of HMB-45 (>75%) and Melan-A (50%), but no necrosis and a low Ki-67 (1%) and mitotic index (1/10 HPF). In the current molecular study, a GNA11 mutation was identified suggesting the possible role of GNA11 mutation in aggressive melanocytoma behavior.Recent studies have attempted to characterize the pathogenetic of meningeal melanocytoma. Numerous gene mutations in meningeal melanocytoma have been reported: GNAQ (47.6%), GNA11 (17.8%), EIF1AX (27.8%), SF3B1 (10%), BAP1 (10%), KRAS (5%), BRAF (3.6%), and NRAS (1.4%). 8 No mutations have been seen in the oncogenic genes c-Kit (0%), HRAS (0%) and the TERT promoter (0%). 8 In some tumors with heterogenous composition, different tumor mutations were present in the more pigmented or less pigmented section. 9 As the orbital component of the reported case was not biopsied, the question remains as to whether the intracranial and intraorbital tumors have identical genomic profiles.Clinicians and investigators have begun to focus on the role of the G-protein genes GNAQ and GNA11 in melanocytic tumors due to the relatively high frequency of mutations in these genes. 5,10 GNAQ and GNA11 are closely related proteins of the Gq family and are critical players in several signaling pathways, including the MAPK pathway. 11 Most published studies focus on the role of GNAQ/GNA11 mutations in other melanocytic lesions-particularly blue nevi and uveal melanomarather than melanocytoma. 12 GNA11 mutations are common in locally advanced primary uveal melanoma and uveal melanoma metastases. 12 Few studies have looked at the prognosis of GNAQ and GNA11 mutations in melanocytoma. 13 van de Nes et al 13 reported that, of the 19 melanocytic tumors studied, all 3 tumors possessing GNA11 mutations were intermediate-grade melanocytomas that recurred, suggesting that GNA11 mutations might be associated with a clinically aggressive phenotype and serve as a marker of prognosis. In meningeal melanocytomas, few mutations in GNA11 have been identified: c.626A > T (exon 5), c.626A > C (exon 5), and codon Q209, not otherwise specified. [14][15][16][17] To the authors' knowledge, this is the first case of a GNA11 Q209L mutation associated with an intracranial melanocytoma and the subsequent development of an intraorbital lesion in a patient with an ipsilateral Nevus of Ota.Nevus of Ota and melanocytomas arise from a common developmental pathway and may carry mutations in GNAQ or GNA11. Mutations in GNA11, such as GNA11 Q209L , are of particular interest as they may have prognostic value. The authors report a GNA11 mutation in a consecutive intracranial and intraorbital melanocytoma in a patient with ipsilateral Nevus of Ota. Further work is needed to determine the prognostic value of GNA11 mutations found in melanocytomas and whether to alter serial monitoring ...

Insights on the Choice and Preparation of the Donor Nerve in Corneal Neurotization for Neurotrophic Keratopathy: A Narrative Review

“…Regarding ICN, the most commonly used nerve grafts are the sural nerve (SN) [30,[38][39][40][41][42], the great auricular (GAN) [31,43], and the lateral antebrachial cutaneous nerve (LABCN) [44]. Historically, in plastic surgery, the SN has been the preferred choice for nerve grafts due to its easy harvesting, long length (up to 40 cm), and minimal sensory deficits [45][46][47][48][49].…”

Implications of neuropathy and management of the corneal surface in a patient with Stuve-Wiedemann syndrome

“…Corneal neurotization surgery has not been described in this syndrome, but theoretically, its results could be compromised due to the diffuse neural affectation of the disease. Variable success has been described with this treatment in a few children diagnosed with different congenital diseases [ 1 , 8 ].…”

Maternal serum eye drops to treat bilateral neurotrophic keratopathy in congenital corneal anesthesia: Case report and literature review

“…Among new surgical procedures, the recent introduction of corneal neurotization opens new perspective in the treatment of (pediatric) NK. 18 , 19 , 20 , 21 , 22 …”